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1

Bayly, R. C., A. Duncan, J. W. May, et al. "Microbiological and Genetic Aspects of the Synthesis of Polyphosphate by Species of Acinetobacter." Water Science and Technology 23, no. 4-6 (1991): 747–54. http://dx.doi.org/10.2166/wst.1991.0525.

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Strains of Acinetobacter which showed marked variation in their ability to accumulate intracellular polyphosphate (Pn) were isolated from a pilot-plant which was removing phosphate biologically. Variants which could not accumulate Pn under the same growth conditions were derived from two of the isolates which accumulated high levels of Pn. The activities of five enzymes reported to have a role in Pn synthesis showed no significant differences between the two variants, their parent strains and two other natural isolates. In the presence of 20 µm N,N'-dicyclohexylcarbodiimide (DCCD), growth of t
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2

Ellingwood, Sara S., and Alan Cheng. "Biochemical and clinical aspects of glycogen storage diseases." Journal of Endocrinology 238, no. 3 (2018): R131—R141. http://dx.doi.org/10.1530/joe-18-0120.

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The synthesis of glycogen represents a key pathway for the disposal of excess glucose while its degradation is crucial for providing energy during exercise and times of need. The importance of glycogen metabolism is also highlighted by human genetic disorders that are caused by mutations in the enzymes involved. In this review, we provide a basic summary on glycogen metabolism and some of the clinical aspects of the classical glycogen storage diseases. Disruptions in glycogen metabolism usually result in some level of dysfunction in the liver, muscle, heart, kidney and/or brain. Furthermore, t
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3

Andriotis, Vasilios M. E., Martin Rejzek, Michael D. Rugen, Birte Svensson, Alison M. Smith, and Robert A. Field. "Iminosugar inhibitors of carbohydrate-active enzymes that underpin cereal grain germination and endosperm metabolism." Biochemical Society Transactions 44, no. 1 (2016): 159–65. http://dx.doi.org/10.1042/bst20150222.

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Starch is a major energy store in plants. It provides most of the calories in the human diet and, as a bulk commodity, it is used across broad industry sectors. Starch synthesis and degradation are not fully understood, owing to challenging biochemistry at the liquid/solid interface and relatively limited knowledge about the nature and control of starch degradation in plants. Increased societal and commercial demand for enhanced yield and quality in starch crops requires a better understanding of starch metabolism as a whole. Here we review recent advances in understanding the roles of carbohy
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Alkhzouz, Camelia, Simona Bucerzan, Maria Miclaus, Andreea-Manuela Mirea, and Diana Miclea. "46,XX DSD: Developmental, Clinical and Genetic Aspects." Diagnostics 11, no. 8 (2021): 1379. http://dx.doi.org/10.3390/diagnostics11081379.

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Differences in sex development (DSD) in patients with 46,XX karyotype occur by foetal or postnatal exposure to an increased amount of androgens. These disorders are usually diagnosed at birth, in newborns with abnormal genitalia, or later, due to postnatal virilization, usually at puberty. Proper diagnosis and therapy are mostly based on the knowledge of normal development and molecular etiopathogenesis of the gonadal and adrenal structures. This review aims to describe the most relevant data that are correlated with the normal and abnormal development of adrenal and gonadal structures in dire
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Frank, S., A. A. Brindley, E. Deery, et al. "Anaerobic synthesis of vitamin B12: characterization of the early steps in the pathway." Biochemical Society Transactions 33, no. 4 (2005): 811–14. http://dx.doi.org/10.1042/bst0330811.

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The anaerobic biosynthesis of vitamin B12 is slowly being unravelled. Recent work has shown that the first committed step along the anaerobic route involves the sirohydrochlorin (chelation of cobalt into factor II). The following enzyme in the pathway, CbiL, methylates cobalt-factor II to give cobalt-factor III. Recent progress on the molecular characterization of this enzyme has given a greater insight into its mode of action and specificity. Structural studies are being used to provide insights into how aspects of this highly complex biosynthetic pathway may have evolved. Between cobalt-fact
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6

Hellemond, Jaap J. van, Anita van der Klei, SusanneW H. van Weelden, and Aloysius G. M. Tielens. "Biochemical and evolutionary aspects of anaerobically functioning mitochondria." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 358, no. 1429 (2003): 205–15. http://dx.doi.org/10.1098/rstb.2002.1182.

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Mitochondria are usually considered to be the powerhouses of the cell and to be responsible for the aerobic production of ATP. However, many eukaryotic organisms are known to possess anaerobically functioning mitochondria, which differ significantly from classical aerobically functioning mitochondria. Recently, functional and phylogenetic studies on some enzymes involved clearly indicated an unexpected evolutionary relationship between these anaerobically functioning mitochondria and the classical aerobic type. Mitochondria evolved by an endosymbiotic event between an anaerobically functioning
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7

Sebezhko, O. I., K. N. Narozhnykh, O. S. Korotkevich, D. A. Alexandrova, and I. N. Morozov. "Contemporary aspects of cholesterol metabolism in cattle." Bulletin of NSAU (Novosibirsk State Agrarian University), no. 2 (July 13, 2021): 91–105. http://dx.doi.org/10.31677/2072-6724-2021-59-2-91-105.

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The literature review presents the current understanding of cholesterol metabolism occurring under physiological conditions. The homeostasis of cholesterol in the body is determined by its endogenous synthesis, the transition to the cell from plasma as part of low-densitylipoproteins( LDL), the release of their cells as part of high-density lipoproteins (HDL). The molecular-genetic mechanisms of regulation of cholesterol homeostasis are described in detail. The genes for cholesterol biosynthesis in major multicellular animals were inherited from their last common eukaryotic ancestor and are ev
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8

Ershov, Pavel, Leonid Kaluzhskiy, Yuri Mezentsev, Evgeniy Yablokov, Oksana Gnedenko, and Alexis Ivanov. "Enzymes in the Cholesterol Synthesis Pathway: Interactomics in the Cancer Context." Biomedicines 9, no. 8 (2021): 895. http://dx.doi.org/10.3390/biomedicines9080895.

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A global protein interactome ensures the maintenance of regulatory, signaling and structural processes in cells, but at the same time, aberrations in the repertoire of protein–protein interactions usually cause a disease onset. Many metabolic enzymes catalyze multistage transformation of cholesterol precursors in the cholesterol biosynthesis pathway. Cancer-associated deregulation of these enzymes through various molecular mechanisms results in pathological cholesterol accumulation (its precursors) which can be disease risk factors. This work is aimed at systematization and bioinformatic analy
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9

Kulkarni, R. N., K. Baskaran, and Tripta Jhang. "Breeding medicinal plant, periwinkle [Catharanthus roseus(L) G. Don]: a review." Plant Genetic Resources 14, no. 4 (2016): 283–302. http://dx.doi.org/10.1017/s1479262116000150.

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AbstractPeriwinkle [Catharanthus roseus(L) G. Don] has become one of the very extensively investigated medicinal plants after the discovery of two powerful anti-cancer alkaloids, vinblastine and vincristine, in its leaves more than 50 years ago. These alkaloidal drugs are still in clinical use. Also, periwinkle is still the only source of these alkaloids and their precursors, catharanthine and vindoline. Low concentrations of these alkaloids in the plant and, therefore, high costs of their extraction have led to tremendous efforts towards understanding their biosynthesis and exploration of alt
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10

Müllner, Heidemarie, and Günther Daum. "Dynamics of neutral lipid storage in yeast." Acta Biochimica Polonica 51, no. 2 (2004): 323–47. http://dx.doi.org/10.18388/abp.2004_3574.

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Since energy storage is a basic metabolic process, the synthesis of neutral lipids occurs in all kingdoms of life. The yeast, Saccharomyces cerevisiae, widely accepted as a model eukaryotic cell, contains two classes of neutral lipids, namely steryl esters and triacylglycerols. Triacylglycerols are synthesized through two pathways governed by the acyl-CoA diacylglycerol acyltransferase Dga1p and the phospholipid diacylglycerol acyltransferase Lro1p, respectively. Steryl esters are formed by the two steryl ester synthases Are1p and Are2p, two enzymes with overlapping function which also catalyz
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11

Suzuki, Tateki, Akiyoshi Nakamura, Koji Kato, et al. "Structure of the Pseudomonas aeruginosa transamidosome reveals unique aspects of bacterial tRNA-dependent asparagine biosynthesis." Proceedings of the National Academy of Sciences 112, no. 2 (2014): 382–87. http://dx.doi.org/10.1073/pnas.1423314112.

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Many prokaryotes lack a tRNA synthetase to attach asparagine to its cognate tRNAAsn, and instead synthesize asparagine from tRNAAsn-bound aspartate. This conversion involves two enzymes: a nondiscriminating aspartyl-tRNA synthetase (ND-AspRS) that forms Asp-tRNAAsn, and a heterotrimeric amidotransferase GatCAB that amidates Asp-tRNAAsn to form Asn-tRNAAsn for use in protein synthesis. ND-AspRS, GatCAB, and tRNAAsn may assemble in an ∼400-kDa complex, known as the Asn-transamidosome, which couples the two steps of asparagine biosynthesis in space and time to yield Asn-tRNAAsn. We report the 3.7
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12

Lovio-Fragoso, José Pablo, Damaristelma de Jesús-Campos, José Antonio López-Elías, Luis Ángel Medina-Juárez, Diana Fimbres-Olivarría, and Corina Hayano-Kanashiro. "Biochemical and Molecular Aspects of Phosphorus Limitation in Diatoms and Their Relationship with Biomolecule Accumulation." Biology 10, no. 7 (2021): 565. http://dx.doi.org/10.3390/biology10070565.

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Diatoms are the most abundant group of phytoplankton, and their success lies in their significant adaptation ability to stress conditions, such as nutrient limitation. Phosphorus (P) is a key nutrient involved in the transfer of energy and the synthesis of several cellular components. Molecular and biochemical mechanisms related to how diatoms cope with P deficiency are not clear, and research into this has been limited to a few species. Among the molecular responses that have been reported in diatoms cultured under P deficient conditions is the upregulation of genes encoding enzymes related t
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13

Cooper, Mark S., та Paul M. Stewart. "11β-Hydroxysteroid Dehydrogenase Type 1 and Its Role in the Hypothalamus-Pituitary-Adrenal Axis, Metabolic Syndrome, and Inflammation". Molecular Endocrinology 23, № 11 (2009): 1934. http://dx.doi.org/10.1210/mend.23.11.9999.

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ABSTRACT Context 11β-Hydroxysteroid dehydrogenase (11β-HSD) enzymes are now appreciated to be important regulators of hormone action at a tissue level. 11β-HSD1 is widely expressed and increases glucocorticoid action through its unique ability to convert inactive glucocorticoids (cortisone in man, 11-dehydrocorticosterone in rodents) to their active forms (cortisol and corticosterone, respectively). The enzyme has roles in the normal hypothalamus-pituitary-adrenal (HPA) axis, has been implicated in metabolic syndrome, and may modulate various aspects of the immune response. Evidence Acquisitio
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14

Jordá, Tania, and Sergi Puig. "Regulation of Ergosterol Biosynthesis in Saccharomyces cerevisiae." Genes 11, no. 7 (2020): 795. http://dx.doi.org/10.3390/genes11070795.

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Ergosterol is an essential component of fungal cell membranes that determines the fluidity, permeability and activity of membrane-associated proteins. Ergosterol biosynthesis is a complex and highly energy-consuming pathway that involves the participation of many enzymes. Deficiencies in sterol biosynthesis cause pleiotropic defects that limit cellular proliferation and adaptation to stress. Thereby, fungal ergosterol levels are tightly controlled by the bioavailability of particular metabolites (e.g., sterols, oxygen and iron) and environmental conditions. The regulation of ergosterol synthes
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15

De Rango, Francesco, Paolina Crocco, Francesca Iannone, et al. "Inositol Polyphosphate Multikinase (IPMK), a Gene Coding for a Potential Moonlighting Protein, Contributes to Human Female Longevity." Genes 10, no. 2 (2019): 125. http://dx.doi.org/10.3390/genes10020125.

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Biogerontological research highlighted a complex and dynamic connection between aging, health and longevity, partially determined by genetic factors. Multifunctional proteins with moonlighting features, by integrating different cellular activities in the space and time, may explain part of this complexity. Inositol Polyphosphate Multikinase (IPMK) is a potential moonlighting protein performing multiple unrelated functions. Initially identified as a key enzyme for inositol phosphates synthesis, small messengers regulating many aspects of cell physiology, IPMK is now implicated in a number of me
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16

Farha, Maya A., Tomasz L. Czarny, Cullen L. Myers, et al. "Antagonism screen for inhibitors of bacterial cell wall biogenesis uncovers an inhibitor of undecaprenyl diphosphate synthase." Proceedings of the National Academy of Sciences 112, no. 35 (2015): 11048–53. http://dx.doi.org/10.1073/pnas.1511751112.

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Drug combinations are valuable tools for studying biological systems. Although much attention has been given to synergistic interactions in revealing connections between cellular processes, antagonistic interactions can also have tremendous value in elucidating genetic networks and mechanisms of drug action. Here, we exploit the power of antagonism in a high-throughput screen for molecules that suppress the activity of targocil, an inhibitor of the wall teichoic acid (WTA) flippase in Staphylococcus aureus. Well-characterized antagonism within the WTA biosynthetic pathway indicated that early
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17

Ingold, Edgar, and Hanns Ulrich Seitz. "Characterization and Properties of Different Glucosyltransferases Isolated from Suspension-Cultured Cells of Daucus carota." Zeitschrift für Naturforschung C 41, no. 4 (1986): 409–20. http://dx.doi.org/10.1515/znc-1986-0407.

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Particulate enzymes (14,000 g pellet) from suspension-cultured carrot cells (Daucus carota L.) incorporated glucose from UDP-glucose and GDP-glucose into ethanol-insoluble products which were characterized as glucans or glucoprotein. Based on the test system to assay glucansynthe- tases I and II four different enzymatic activities could be distinguished on the basis of their substrate and divalent cation requirements, the influence of active substances such as nucleotides, nucleotide sugars, cellobiose, and in vivo inhibitors of cell wall glucan synthesis, their distribution in linear sucrose
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18

Behl, Tapan, Ishnoor Kaur, Arun Kumar, Vineet Mehta, Gokhan Zengin, and Sandeep Arora. "Gene Therapy in the Management of Parkinson’s Disease: Potential of GDNF as a Promising Therapeutic Strategy." Current Gene Therapy 20, no. 3 (2020): 207–22. http://dx.doi.org/10.2174/1566523220999200817164051.

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: The limitations of conventional treatment therapies in Parkinson’s disorder, a common neurodegenerative disorder, lead to the development of an alternative gene therapy approach. Multiple treatment options targeting dopaminergic neuronal regeneration, production of enzymes linked with dopamine synthesis, subthalamic nucleus neurons, regulation of astrocytes and microglial cells and potentiating neurotrophic factors, were established. Viral vector-based dopamine delivery, prodrug approaches, fetal ventral mesencephalon tissue transplantation and dopamine synthesizing enzyme encoding gene deli
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19

Rincon, Gonzalo, Alma Islas-Trejo, Alejandro R. Castillo, Dale E. Bauman, Bruce J. German, and Juan F. Medrano. "Polymorphisms in genes in the SREBP1 signalling pathway and SCD are associated with milk fatty acid composition in Holstein cattle." Journal of Dairy Research 79, no. 1 (2011): 66–75. http://dx.doi.org/10.1017/s002202991100080x.

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Genes in the sterol regulatory element-binding protein-1 (SREBP1) pathway play a central role in regulation of milk fat synthesis, especially the de-novo synthesis of saturated fatty acids. SCD, a SREBP-responsive gene, is the key enzyme in the synthesis of monounsaturated fatty acids in the mammary gland. In the present study, we discovered SNP in candidate genes associated with this signalling pathway and SCD to identify genetic markers that can be used for genetic and metabolically directed selection in cattle. We resequenced six candidate genes in the SREBP1 pathway (SREBP1, SCAP, INSIG1,
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20

Thangavelu, Govindarajan, Asim Saha, Kazutoshi Aoyama, et al. "Critical Roles of Retinoic Acid Signaling in Combating Acute Graft Versus Host Disease." Blood 128, no. 22 (2016): 4534. http://dx.doi.org/10.1182/blood.v128.22.4534.4534.

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Abstract Retinoic acid (RA), a metabolite of vitamin A, modulates a variety of aspects of the immune system, primarily because of its diverse effects on a wide range of immune cells. Initiation of RA-mediated transcription requires the binding of RA to heterodimeric nuclear receptors composed of RA receptors (RARα, β, and γ) and retinoid X receptors (RXRα, β, and γ). Although RA signaling is tolerogenic under steady state conditions, previous studies, including ours, have shown that RA can enhance pro-inflammatory responses in acute graft-versus-host disease (aGVHD) (Blood. 2013; 122(12): 2125
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21

Szymański, M., M. Deniziak, and J. Barciszewski. "The new aspects of aminoacyl-tRNA synthetases." Acta Biochimica Polonica 47, no. 3 (2000): 821–34. http://dx.doi.org/10.18388/abp.2000_4000.

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Aminoacyl-tRNA synthetases (AARS) are essential proteins found in all living organisms. They form a diverse group of enzymes that ensure the fidelity of transfer of genetic information from the DNA into the protein. AARS catalyse the attachment of amino acids to transfer RNAs and thereby establish the rules of the genetic code by virtue of matching the nucleotide triplet of the anticodon with its cognate amino acid. Here we summarise the effects of recent studies on this interesting family of multifunctional enzymes.
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22

Hanaei, Sara, Sina Abdollahzade, Alireza Khoshnevisan, Christopher K. Kepler, and Nima Rezaei. "Genetic aspects of intervertebral disc degeneration." Reviews in the Neurosciences 26, no. 5 (2015): 581–606. http://dx.doi.org/10.1515/revneuro-2014-0077.

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AbstractIntervertebral disc degeneration (IVDD) is one of the common causes of low back pain. Similar to many other multifactorial diseases, it is affected by environmental and genetic factors. Although not completely understood, genetic factors include a wide spectrum of variations, such as single nucleotide polymorphisms, which could play a significant role in the etiology of this disease. Besides, the interactions with environmental factors could make the role of genetic factors more complicated. Genetic variations in disc components could participate in developing degenerative disc disease
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23

Morales, Laura E. "Gaucher's Disease: A Review." Annals of Pharmacotherapy 30, no. 4 (1996): 381–88. http://dx.doi.org/10.1177/106002809603000411.

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OBJECTIVE: To review the epidemiology, pathophysiology, clinical features, diagnosis, and treatment of Gaucher's disease, focusing on the role of enzyme replacement therapy. DATA SOURCES: a MEDLINE search (from 1984 to July 1995) of English-language literature pertaining to the treatment of Gaucher's disease was performed. Additional references were obtained by reviewing the references of pertinent articles identified through the search. Tertiary sources were also used. STUDY SELECTION AND DATA EXTRACTION: Articles with information on enzyme treatment were selected for review. Articles contain
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Nedoszytko, Bogusław, Edyta Reszka, Danuta Gutowska-Owsiak, et al. "Genetic and Epigenetic Aspects of Atopic Dermatitis." International Journal of Molecular Sciences 21, no. 18 (2020): 6484. http://dx.doi.org/10.3390/ijms21186484.

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Atopic dermatitis is a heterogeneous disease, in which the pathogenesis is associated with mutations in genes encoding epidermal structural proteins, barrier enzymes, and their inhibitors; the role of genes regulating innate and adaptive immune responses and environmental factors inducing the disease is also noted. Recent studies point to the key role of epigenetic changes in the development of the disease. Epigenetic modifications are mainly mediated by DNA methylation, histone acetylation, and the action of specific non-coding RNAs. It has been documented that the profile of epigenetic chang
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25

Wani, Arshad Iqbal, Khalid J. Farooqi, Mir Iftikhar Bashir, Shahnaz Ahmad Mir, and Shariq Rashid Masoodi. "Mucopolysaccharidosis: Clinical and Radiological Aspects." JMS SKIMS 15, no. 1 (2012): 54–56. http://dx.doi.org/10.33883/jms.v15i1.115.

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Mucopolysaccharidosis (MPS) refers to a group of genetic disorder characterized by excessive accumulation of mucopolysaccharides secondary to deficiencies in specific enzymes. It produces characteristic skeletal abnormalities collectively termed as “dysostosis multiplex”. Here we describe a young female child with classical radiological features of MPS on plain radiographs. JMS 2012;15(1):54-56.
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Pöschl, Gudrun, Felix Stickel, Xiang D. Wang, and Helmut K. Seitz. "Alcohol and cancer: genetic and nutritional aspects." Proceedings of the Nutrition Society 63, no. 1 (2004): 65–71. http://dx.doi.org/10.1079/pns2003323.

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Chronic alcohol consumption is a major risk factor for cancer of upper aero-digestive tract (oro-pharynx, hypopharynx, larynx and oesophagus), the liver, the colo-rectum and the breast. Evidence has accumulated that acetaldehyde is predominantly responsible for alcohol-associated carcinogenesis. Acetaldehyde is carcinogenic and mutagenic, binds to DNA and protein, destroys the folate molecule and results in secondary cellular hyper-regeneration. Acetaldehyde is produced by mucosal and cellular alcohol dehydrogenase, cytochrome P450 2E1 and through bacterial oxidation. Its generation and/or its
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Serdiuk, V., and K. Maidenko. "Genetic Aspects of Primary Open-Angle Glaucoma." Ukrainian journal Ophthalmology, no. 2(13) (June 2021): 47–51. http://dx.doi.org/10.30702/ophthalmology30062021-13.2.47-51/681-07-037.

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Glaucoma is one of the widespread eye diseases causing visual disturbances and even blindness. Almost 15% of blindness worldwide is due to glaucoma. One of the factors of glaucoma development is heredity. Currently, identification and diagnosis of new glaucoma cases is achieved either by routine screening or examinations prompted by perceived risk. The factors associated with the pathogenesis of glaucoma include high intraocular pressure (IOP), aging, decreased blood flow and genetic factors. Traditional vision screening for disorders like primary open-angle glaucoma (POAG) is time-consuming an
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28

Pomohaibo, V. M., L. D. Orlova, and N. A. Vlasenko. "Environmental DNA: ecological and genetic aspects." Ecology and Noospherology 27, no. 1-2 (2016): 16–24. http://dx.doi.org/10.15421/031602.

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Attention to environmental DNA (eDNA) was motivated by problem of undesirable gene transfer possibility from genetically modified plants to wild bacteria and other organisms. First studies have already examined persistence of DNA from these plants in soil, and also in the samples of nearby groundwater and river for a few kilometers from the place of cultivating. In soil it persists long time enough – from a few days to a few years, and in water – from a few hours to a few days. eDNA excreted from different sources – frozen ice cores, sediments of lakes, soil, caves, water of lakes, rivers and
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Wünsch Filho, Victor, and Marco A. Zago. "Modern cancer epidemiological research: genetic polymorphisms and environment." Revista de Saúde Pública 39, no. 3 (2005): 490–97. http://dx.doi.org/10.1590/s0034-89102005000300023.

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Individual cancer susceptibility seems to be related to factors such as changes in oncogenes and tumor suppressor genes expression, and differences in the action of metabolic enzymes and DNA repair regulated by specific genes. Epidemiological studies on genetic polymorphisms of human xenobiotics metabolizing enzymes and cancer have revealed low relative risks. Research considering genetic polymorphisms prevalence jointly with environmental exposures could be relevant for a better understanding of cancer etiology and the mechanisms of carcinogenesis and also for new insights on cancer prognosis
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Bennick, A. "Structural and Genetic Aspects of Proline-rich Proteins." Journal of Dental Research 66, no. 2 (1987): 457–61. http://dx.doi.org/10.1177/00220345870660021201.

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Considerable advances have been made in the genetics of salivary proline-rich proteins (PRP). The genes for acidic, basic, and glycosylated PRP have been cloned. They code for precursor proteins that all have an acidic N-terminal followed by proline-rich repeat sequences. Structural studies on secreted proteins have demonstrated that not only acidic but also some basic PRPs have this general structure. It is possible that mRNA for different PRP may have originated from a single gene by differential mRNA splicing, but post-translational cleavages of the primary translation product apparently al
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31

Neto, Roberval N. M., Edelvio de Barros Gomes, Lucas Weba-Soares, Léo R. L. Dias, Luís C. N. da Silva, and Rita de C. M. de Miranda. "Biotechnological Production of Statins: Metabolic Aspects and Genetic Approaches." Current Pharmaceutical Biotechnology 20, no. 15 (2019): 1244–59. http://dx.doi.org/10.2174/1389201020666190718165746.

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Statins are drugs used for people with abnormal lipid levels (hyperlipidemia) and are among the best-selling medications in the United States. Thus, the aspects related to the production of these drugs are of extreme importance for the pharmaceutical industry. Herein, we provide a non-exhaustive review of fungal species used to produce statin and highlighted the major factors affecting the efficacy of this process. The current biotechnological approaches and the advances of a metabolic engineer to improve statins production are also emphasized. The biotechnological production of the main stati
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Kim, T. Doohun, and Kyeong Kyu Kim. "Crystallographic Studies of Enzymes." Crystals 10, no. 1 (2019): 6. http://dx.doi.org/10.3390/cryst10010006.

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Enzymes are biological catalysts, which work to accelerate chemical reactions at the molecular level in living organisms. They are major players in the control of biological processes such as replication, transcription, protein synthesis, metabolism, and signaling. Like inorganic catalysts, enzymes function by decreasing the activation energy of chemical reactions, thereby enhancing the rate of the reactions. Enzymes are widely used for chemical, food, pharmaceutical, medicinal, analytical, clinical, forensic, and environmental applications. Therefore, studies on their structure, mechanism, an
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Petrone, Igor, Paula Sabbo Bernardo, Everton Cruz dos Santos, and Eliana Abdelhay. "MTHFR C677T and A1298C Polymorphisms in Breast Cancer, Gliomas and Gastric Cancer: A Review." Genes 12, no. 4 (2021): 587. http://dx.doi.org/10.3390/genes12040587.

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Folate (vitamin B9) is found in some water-soluble foods or as a synthetic form of folic acid and is involved in many essential biochemical processes. Dietary folate is converted into tetrahydrofolate, a vital methyl donor for most methylation reactions, including DNA methylation. 5,10-methylene tetrahydrofolate reductase (MTHFR) is a critical enzyme in the folate metabolism pathway that converts 5,10-methylenetetrahydrofolate into 5-methyltetrahydrofolate, which produces a methyl donor for the remethylation of homocysteine to methionine. MTHFR polymorphisms result in reduced enzyme activity a
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Kadyshev, V. V., S. A. Ryazhskaya, O. V. Khalanskaya, N. V. Zhurkova, and R. A. Zinchenko. "Clinical and genetic aspects of albinism." Russian Journal of Clinical Ophthalmology 21, no. 3 (2021): 175–80. http://dx.doi.org/10.32364/2311-7729-2021-21-3-175-180.

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Albinism is a clinically and genetically heterogeneous group of hereditary diseases whose pathogenesis is mediated by impaired synthesis of melanin which results in its partial or total loss. Reduced melatonin level clinically manifests as skin, hair, and ocular hypopigmentation. Ocular presentations include hypopigmentation/lack of pigmentation of eye fundus and iris, foveal hypoplasia, low vision, nystagmus and strabismus, photophobia, iris transillumination, and asymmetrical decussation of nerve fibers at the optic chiasm. However, albinism can be a part of more complex genetic syndromes, e
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Schulze, Jenny Jakobsson, Mattias Lorentzon, Claes Ohlsson, et al. "Genetic aspects of epitestosterone formation and androgen disposition: influence of polymorphisms in CYP17 and UGT2B enzymes." Pharmacogenetics and Genomics 18, no. 6 (2008): 477–85. http://dx.doi.org/10.1097/fpc.0b013e3282fad38a.

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36

Liu, Xiaobing, Bingjie Tu, Qiuying Zhang, and Stephen J. Herbert. "Physiological and molecular aspects of pod shattering resistance in crops." Czech Journal of Genetics and Plant Breeding 55, No. 3 (2019): 87–92. http://dx.doi.org/10.17221/104/2018-cjgpb.

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Pod shattering resistance is a trait acquired by crops in the process of evolution. Manipulation of physiological and molecular processes is fundamental for the improvement of shattering resistance in crops. In this review we discuss several enzymes, key hormones and their possible roles or relationships involved in pod shattering, and highlight responsible genes, quantitative traits loci (QTLs) and their implications for increased pod shattering resistance. Cell wall degrading enzymes, particularly β-glucanases and endopolygalacturonases play an important role in the process of pod dehiscence
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37

Abete-Luzi, Patricia, Tetsunari Fukushige, Sijung Yun, Michael W. Krause, and David M. Eisenmann. "New Roles for the Heterochronic Transcription Factor LIN-29 in Cuticle Maintenance and Lipid Metabolism at the Larval-to-Adult Transition in Caenorhabditis elegans." Genetics 214, no. 3 (2020): 669–90. http://dx.doi.org/10.1534/genetics.119.302860.

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Temporal regulation of gene expression is a crucial aspect of metazoan development. In the roundworm Caenorhabditis elegans, the heterochronic pathway controls multiple developmental events in a time-specific manner. The most downstream effector of this pathway, the zinc-finger transcription factor LIN-29, acts in the last larval stage (L4) to regulate elements of the larval-to-adult switch. Here, we explore new LIN-29 targets and their implications for this developmental transition. We used RNA-sequencing to identify genes differentially expressed between animals misexpressing LIN-29 at an ea
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38

Reue, Karen, Jessica M. Lee, and Laurent Vergnes. "Diet1 Is a Regulator of Fibroblast Growth Factor 15/19-Dependent Bile Acid Synthesis." Digestive Diseases 33, no. 3 (2015): 307–13. http://dx.doi.org/10.1159/000371649.

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Background: A fascinating aspect of bile acid homeostasis is the coordination between bile acid uptake in intestine and hepatic bile acid synthesis. In response to bile acid uptake in enterocytes, farnesoid X receptor is activated and induces transcription of fibroblast growth factor (FGF)15 in mice, or FGF19 in humans. FGF15/19 is secreted into the enterohepatic circulation, and through activation of hepatic receptors, leads to repression of Cyp7a1, a rate-limiting enzyme for bile acid synthesis. Using a genetic approach, we identified a novel protein, Diet1, as a control point for FGF15/19 p
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Баймиев, Ан Х., Е. А. Гильванова, П. Ю. Мильман, Р. Т. Матниязов, and Ал Х. Баймиев. "Genetic engineering of cyclomaltodextrin glucanotransferases." Biomics 13, no. 2 (2021): 138–52. http://dx.doi.org/10.31301/2221-6197.bmcs.2021-10.

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Studies of cyclic oligosaccharides from six, seven and eight glucose residues, designated as alpha-, beta- and gamma-cyclodextrins, respectively, and everything related to them have been going on for 130 years. In this review, the history of the study of these molecules is briefly considered. The interest in cyclodextrins is caused by their ability to form inclusion complexes with a number of organic and inorganic compounds, radically changing some of their properties. This is widely used in the pharmaceutical, cosmetic and food industries, and beta-cyclodextrin is even registered as a food ad
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40

Tavasoli, Mahtab, Sarah Lahire, Taryn Reid, Maren Brodovsky, and Christopher R. McMaster. "Genetic diseases of the Kennedy pathways for membrane synthesis." Journal of Biological Chemistry 295, no. 51 (2020): 17877–86. http://dx.doi.org/10.1074/jbc.rev120.013529.

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The two branches of the Kennedy pathways (CDP-choline and CDP-ethanolamine) are the predominant pathways responsible for the synthesis of the most abundant phospholipids, phosphatidylcholine and phosphatidylethanolamine, respectively, in mammalian membranes. Recently, hereditary diseases associated with single gene mutations in the Kennedy pathways have been identified. Interestingly, genetic diseases within the same pathway vary greatly, ranging from muscular dystrophy to spastic paraplegia to a childhood blinding disorder to bone deformations. Indeed, different point mutations in the same ge
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41

Hastings, I. M. "Germline selection: population genetic aspects of the sexual/asexual life cycle." Genetics 129, no. 4 (1991): 1167–76. http://dx.doi.org/10.1093/genetics/129.4.1167.

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Abstract Population geneticists make a distinction between sexual and asexual organisms depending on whether individuals inherit genes from one or two parents. When individual genes are considered, this distinction becomes less satisfactory for multicellular sexual organisms. Individual genes pass through numerous asexual mitotic cell divisions in the germline prior to meiosis and sexual recombination. The processes of mitotic mutation, mitotic crossing over, and mitotic gene conversion create genotypic diversity between diploid cells in the germline. Genes expressed in the germline whose prod
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Terruzzi, Ileana, Pamela Senesi, Anna Montesano, et al. "Genetic polymorphisms of the enzymes involved in DNA methylation and synthesis in elite athletes." Physiological Genomics 43, no. 16 (2011): 965–73. http://dx.doi.org/10.1152/physiolgenomics.00040.2010.

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Physical exercise induces adaptive changes leading to a muscle phenotype with enhanced performance. We first investigated whether genetic polymorphisms altering enzymes involved in DNA methylation, probably responsible of DNA methylation deficiency, are present in athletes' DNA. We determined the polymorphic variants C667T/A1298C of 5,10-methylenetetrahydrofolate reductase (MTHFR), A2756G of methionine synthase (MTR), A66G of methionine synthase reductase (MTRR), G742A of betaine:homocysteine methyltransferase (BHMT), and 68-bp ins of cystathionine β-synthase (CBS) genes in 77 athletes and 54
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Cunningham, Francis X. "Regulation of carotenoid synthesis and accumulation in plants." Pure and Applied Chemistry 74, no. 8 (2002): 1409–17. http://dx.doi.org/10.1351/pac200274081409.

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Although genes that encode most enzymes of the carotenoid pathway in higher plants have been identified, the regulatory mechanisms that govern the synthesis and accumulation of carotenoid pigments are still obscure. Recent findings relevant to two aspects of carotenoid pathway control are reviewed: availability of substrate and pathway branching. Experimental approaches that are likely to enhance our understanding of carotenoid pathway regulation are also described.
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Shi, Yuguang, and Dong Cheng. "Beyond triglyceride synthesis: the dynamic functional roles of MGAT and DGAT enzymes in energy metabolism." American Journal of Physiology-Endocrinology and Metabolism 297, no. 1 (2009): E10—E18. http://dx.doi.org/10.1152/ajpendo.90949.2008.

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Monoacyglycerol acyltransferases (MGATs) and diacylglycerol acyltransferases (DGATs) catalyze two consecutive steps of enzyme reactions in the synthesis of triacylglycerols (TAGs). The metabolic complexity of TAG synthesis is reflected by the presence of multiple isoforms of MGAT and DGAT enzymes that differ in catalytic properties, subcellular localization, tissue distribution, and physiological functions. MGAT and DGAT enzymes play fundamental roles in the metabolism of monoacylglycerol (MAG), diacylglycerol (DAG), and triacylglycerol (TAG) that are involved in many aspects of physiological
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Rao, Mala B., Aparna M. Tanksale, Mohini S. Ghatge, and Vasanti V. Deshpande. "Molecular and Biotechnological Aspects of Microbial Proteases." Microbiology and Molecular Biology Reviews 62, no. 3 (1998): 597–635. http://dx.doi.org/10.1128/mmbr.62.3.597-635.1998.

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SUMMARY Proteases represent the class of enzymes which occupy a pivotal position with respect to their physiological roles as well as their commercial applications. They perform both degradative and synthetic functions. Since they are physiologically necessary for living organisms, proteases occur ubiquitously in a wide diversity of sources such as plants, animals, and microorganisms. Microbes are an attractive source of proteases owing to the limited space required for their cultivation and their ready susceptibility to genetic manipulation. Proteases are divided into exo- and endopeptidases
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Makar, I. A., V. V. Havrylyak, and G. M. Sedilo. "Genetic and biochemical aspects of the synthesis of keratin by hair follicles." Cytology and Genetics 41, no. 1 (2007): 65–68. http://dx.doi.org/10.3103/s0095452707010094.

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Khavinson, Vladimir, Natalia Linkova, Ekaterina Kozhevnikova, and Svetlana Trofimova. "EDR Peptide: Possible Mechanism of Gene Expression and Protein Synthesis Regulation Involved in the Pathogenesis of Alzheimer’s Disease." Molecules 26, no. 1 (2020): 159. http://dx.doi.org/10.3390/molecules26010159.

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The EDR peptide (Glu-Asp-Arg) has been previously established to possess neuroprotective properties. It activates gene expression and synthesis of proteins, involved in maintaining the neuronal functional activity, and reduces the intensity of their apoptosis in in vitro and in vivo studies. The EDR peptide interferes with the elimination of dendritic spines in neuronal cultures obtained from mice with Alzheimer’s (AD) and Huntington’s diseases. The tripeptide promotes the activation of the antioxidant enzyme synthesis in the culture of cerebellum neurons in rats. The EDR peptide normalizes be
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Kladar, Nebojša, Jasminka Mrđanović, Goran Anačkov, et al. "Hypericum perforatum: Synthesis of Active Principles during Flowering and Fruitification—Novel Aspects of Biological Potential." Evidence-Based Complementary and Alternative Medicine 2017 (2017): 1–11. http://dx.doi.org/10.1155/2017/2865610.

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St. John’s wort is a widely used medicinal plant. The quality of herbal drug, which is in most of the cases collected from nature, varies. Therefore, the aim of the present study was detailed chemical characterization of Hypericum perforatum subsp. perforatum samples collected in close time intervals during flowering and fruitification with the purpose to state the phenological stage characterized by maximum levels of active principles. The antioxidant potential and potential to inhibit biologically important enzymes, as well as the cytotoxicity and genotoxicity of the sample collected during
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Palmer, C. V., J. C. Bythell, and B. L. Willis. "Enzyme activity demonstrates multiple pathways of innate immunity in Indo-Pacific anthozoans." Proceedings of the Royal Society B: Biological Sciences 279, no. 1743 (2012): 3879–87. http://dx.doi.org/10.1098/rspb.2011.2487.

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Coral reefs are threatened by increasing levels of coral disease and the functional loss of obligate algal symbionts (bleaching). Levels of immunity relate directly to susceptibility to these threats; however, our understanding of fundamental aspects of coral immunology is lacking. We show that three melanin-synthesis pathway components (mono-phenoloxidase, ortho -diphenoloxidase (tyrosinase-type pathway) and para -diphenoloxidase (laccase-type pathway)) are present in both their active (phenoloxidase, PO) and inactive (prophenoloxidase, PPO) forms across a diverse range of 22 species of healt
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Kieser, Karen J., Catherine Baranowski, Michael C. Chao, et al. "Peptidoglycan synthesis in Mycobacterium tuberculosis is organized into networks with varying drug susceptibility." Proceedings of the National Academy of Sciences 112, no. 42 (2015): 13087–92. http://dx.doi.org/10.1073/pnas.1514135112.

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Peptidoglycan (PG), a complex polymer composed of saccharide chains cross-linked by short peptides, is a critical component of the bacterial cell wall. PG synthesis has been extensively studied in model organisms but remains poorly understood in mycobacteria, a genus that includes the important human pathogen Mycobacterium tuberculosis (Mtb). The principle PG synthetic enzymes have similar and, at times, overlapping functions. To determine how these are functionally organized, we carried out whole-genome transposon mutagenesis screens in Mtb strains deleted for ponA1, ponA2, and ldtB, major PG
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