Bibliografie tematiche / Lysosomal storage diseases

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Letteratura scientifica selezionata sul tema "Lysosomal storage diseases"

Autore: Grafiati
Pubblicato: 4 giugno 2021
Ultima modifica: 25 luglio 2025

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Articoli di riviste sul tema "Lysosomal storage diseases"

1

Xu, Miao, Ke Liu, Manju Swaroop, et al. "A Phenotypic Compound Screening Assay for Lysosomal Storage Diseases." Journal of Biomolecular Screening 19, no. 1 (2013): 168–75. http://dx.doi.org/10.1177/1087057113501197.

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Abstract (sommario):
The lysosome is a vital cellular organelle that primarily functions as a recycling center for breaking down unwanted macromolecules through a series of hydrolases. Functional deficiencies in lysosomal proteins due to genetic mutations have been found in more than 50 lysosomal storage diseases that exhibit characteristic lipid/macromolecule accumulation and enlarged lysosomes. Recently, the lysosome has emerged as a new therapeutic target for drug development for the treatment of lysosomal storage diseases. However, a suitable assay for compound screening against the diseased lysosomes is curre
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2

Schulze, M., S. Groeschel, J. Gburek-Augustat, T. Nägele, and M. Horger. "Lysosomal Storage Diseases – Lysosomale Speichererkrankungen." RöFo - Fortschritte auf dem Gebiet der Röntgenstrahlen und der bildgebenden Verfahren 187, no. 12 (2015): 1057–60. http://dx.doi.org/10.1055/s-0035-1552368.

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3

Simonaro, Calogera M. "Lysosomes, Lysosomal Storage Diseases, and Inflammation." Journal of Inborn Errors of Metabolism and Screening 4 (May 14, 2016): 232640981665046. http://dx.doi.org/10.1177/2326409816650465.

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4

Breiden, Bernadette, and Konrad Sandhoff. "Lysosomal Glycosphingolipid Storage Diseases." Annual Review of Biochemistry 88, no. 1 (2019): 461–85. http://dx.doi.org/10.1146/annurev-biochem-013118-111518.

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Abstract (sommario):
Glycosphingolipids are cell-type-specific components of the outer leaflet of mammalian plasma membranes. Gangliosides, sialic acid–containing glycosphingolipids, are especially enriched on neuronal surfaces. As amphi-philic molecules, they comprise a hydrophilic oligosaccharide chain attached to a hydrophobic membrane anchor, ceramide. Whereas glycosphingolipid formation is catalyzed by membrane-bound enzymes along the secretory pathway, degradation takes place at the surface of intralysosomal vesicles of late endosomes and lysosomes catalyzed in a stepwise fashion by soluble hydrolases and as
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5

Gorbunova, Victoria N. "Congenital metabolic diseases. Lysosomal storage diseases." Pediatrician (St. Petersburg) 12, no. 2 (2021): 73–83. http://dx.doi.org/10.17816/ped12273-83.

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Abstract (sommario):
The classification and epidemiology of hereditary metabolic disorders are presented. That is a large group consisting from more them 800 monogenic diseases, each of which caused by inherited deficiency of certain metabolic fate. Many of these disorders are extremely rare, but their total incidence in the population is close to 1:10005000. Lysosomal storage diseases (LSD) resulting from inherited deficiency in lysosomal functions occupy a special place among hereditary metabolic disorders. The defects of catabolism cause the accumulation of undigested or partially digested macromolecules in lys
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Gorbunova, Viktoria N., Natalia V. Buchinskaia, and Anastasia O. Vechkasova. "Lysosomal storage diseases. Mucolipidosis." Pediatrician (St. Petersburg) 15, no. 5 (2024): 81–98. https://doi.org/10.17816/ped15581-98.

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Abstract (sommario):
The epidemiology, clinical, biochemical and molecular genetic characteristics of mucolipidoses — autosomal recessive lysosomal storage diseases that combine the clinical manifestations of mucopolysaccharidoses and sphingolipidoses — are presented. In accordance with the modern classification, types I, II and III mucolipidoses are classified as glycoproteinoses, and type IV mucolipidoses are classified as gangliosidoses. Mucolipidoses type I, or sialidosis, is caused by the presence of inactivating mutations in the α-neuraminidase gene NEU1, and a related disease is galactosialidosis, accompani
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Gorbunova, Victoria N., Natalia V. Buchinskaia, and Anastasia O. Vechkasova. "Lysosomal storage diseases. Glycoproteinoses — oligosaccharidoses." Pediatrician (St. Petersburg) 16, no. 1 (2025): 5–24. https://doi.org/10.17816/ped1615-24.

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Abstract (sommario):
The epidemiology, clinical, biochemical and molecular genetic characteristics of oligosaccharidoses are presented — a group of rare autosomal recessive lysosomal diseases, includes sialidosis, mannosidosis, fucosidosis, aspartylglucosaminuria and α-N-acetylgalactosaminidase deficiency. All these diseases are caused by impaired catabolism of glycoproteins and excessive accumulation of various types of oligosaccharides in lysosomes. Clinically, they are characterized by progressive neuropsychiatric disorders combined with a mild gurler-like phenotype. Two genetically heterogeneous variants of al
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8

Ferreira, Carlos R., and William A. Gahl. "Lysosomal storage diseases." Translational Science of Rare Diseases 2, no. 1-2 (2017): 1–71. http://dx.doi.org/10.3233/trd-160005.

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9

Rose Georgy, Smitha. "Lysosomal storage diseases." Journal of Veterinary and Animal Sciences 52, no. 1 (2021): 1–6. http://dx.doi.org/10.51966/jvas.2021.52.1.1-6.

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10

Neufeld, Elizabeth F. "Lysosomal Storage Diseases." Annual Review of Biochemistry 60, no. 1 (1991): 257–80. http://dx.doi.org/10.1146/annurev.bi.60.070191.001353.

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Tesi sul tema "Lysosomal storage diseases"

1

Roy, Elise. "Cell disorders in lysosomal storage diseases." Phd thesis, Université René Descartes - Paris V, 2012. http://tel.archives-ouvertes.fr/tel-00683248.

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Abstract (sommario):
Mucopolysaccharidosis type IIIB (MPSIIIB) is a lysosomal storage disease (LSD) characterized by accumulation of heparan sulfate oligosaccharides (HSO), which results in progressive mental retardation, neurodegeneration and premature death in children. The underlying mechanisms are poorly understood. Coming to a better understanding of the pathophysiology of MPSIIIB has become a necessity to assess the efficacy of gene therapy treatment regarding loss of neuronal plasticity, and to define the best conditions for treatment. To address the link between HSO accumulation and downstream pathological
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2

Chen, Chun-Wu. "Defective iron homeostasis in lysosomal storage diseases." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:5127c241-be64-4990-bef5-70e15d391394.

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Abstract (sommario):
Niemann-Pick type Cl (NPC1) disease is a neurodegenerative lysosomal storage disorder characterized by the accumulation of multiple lipids in the late endosome/lysosomal system and reduced acidic store calcium levels. Since the lysosomal system is involved in regulating aspects of transition metal ion homeostasis and its intracellular compartmentalization, we have investigated whether there are metal ion metabolism defects and haematological abnormalities in NPC1 disease. We have identified multiple haematological changes, including decreased haematocrit, haemoglobin and mean corpuscular haemo
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3

Ross, Colin J. D. "Immuno-isolation gene therapy for lysosomal storage disease /." *McMaster only, 2001.

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4

Rigal, Nathalie [Verfasser]. "Improving enzyme replacement therapy for lysosomal storage diseases / Nathalie Rigal." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2018. http://d-nb.info/115576093X/34.

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5

Lewis, Martin David. "Human lysosomal sulphate transport." Title page, contents and abstract only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phl6752.pdf.

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Abstract (sommario):
Addendum inserted at back Includes bibliographical references (leaves 266-287). 1. Introduction -- 2. Materials and general methods -- 3. Characterisation and partial purification of the lysosomal sulphate transporter -- 4. Identification of proteins involved in lysosomal sulphate transport -- 5. The relationship between a sulphate anion transporter family and the lysosomal sulphate transporter -- 6. Investigation of sulphate transport in human skin fibroblasts -- 7. Concluding remarks
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Kanju, Patrick M. Suppiramaniam Vishnu. "Synaptic glutamate receptor dysfunction in tissue and animal models of Alzheimer's disease." Auburn, Ala., 2005. http://repo.lib.auburn.edu/2005%20Summer/doctoral/KANJU_PATRICK_11.pdf.

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7

Champigny, Marc J. Igdoura Suleiman. "Transcriptional regulation of neu1 expression: Implications for lysosomal storage disease /." *McMaster only, 2005.

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8

Maalouf, Katia Ghandour [Verfasser]. "Role of lipid rafts in the pathophysiology of lysosomal storage diseases / Katia Ghandour Maalouf." Hannover : Technische Informationsbibliothek und Universitätsbibliothek Hannover (TIB), 2012. http://nbn-resolving.de/urn:nbn:de:gbv:089-7259318337.

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Ghandour, Maalouf Katia [Verfasser]. "Role of lipid rafts in the pathophysiology of lysosomal storage diseases / Katia Ghandour Maalouf." Hannover : Technische Informationsbibliothek und Universitätsbibliothek Hannover (TIB), 2012. http://d-nb.info/1029515352/34.

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10

Gray, James Andrew Russell. "Modulating the heat-shock response : a potential therapy for lysosomal storage disorders." Thesis, University of Oxford, 2014. https://ora.ox.ac.uk/objects/uuid:d9b746c9-9026-4a6e-97b5-00bb848100d7.

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Abstract (sommario):
Lysosomal storage disorders (LSDs) comprise a broad disease group of inherited metabolic disorders, the majority of which are associated with CNS pathology, significant disability and reductions in life expectancy. LSDs are caused by mutations in genes encoding proteins critical for the correct functioning of lysosomal homeostasis. The disruption of lysosomal homeostasis results in the abnormal accumulation of lysosomal content, initiating intracellular pathological events, including calcium dysregulation and lysosomal membrane permeablisation (LMP) affecting cell function and inducing cellula
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Libri sul tema "Lysosomal storage diseases"

1

A, Barranger John, and Cabrera-Salazar Mario A, eds. Lysosomal storage disorders. Springer, 2007.

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2

Mehta, Atul B., and Bryan Winchester. Lysosomal storage disorders: A practical guide. Wiley-Blackwell, 2013.

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3

Mononen, Ilkka. Lysosomal storage disease--aspartylglycosaminuria. Springer, 1997.

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4

Inc, ebrary, ed. Lysosomal storage disorders: Principles and practice. World Scientific, 2010.

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5

Boelens, Jaap Jan, and Robert Wynn, eds. Stem Cell Therapy in Lysosomal Storage Diseases. Springer New York, 2013. http://dx.doi.org/10.1007/978-1-4614-8357-1.

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6

A, Gibbs Dorothy, ed. Lysosomal storage diseases: Biochemical and clinical aspects. Taylor & Francis, 1986.

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G, Thoene Jess, ed. Pathophysiology of lysosomal transport. CRC Press, 1992.

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8

Al-Essa, Mohammed A. Atlas of common lysosomal and peroxisomal disorders. Scientific Informations Office, Research Centre, King Faisal Specialist Hospital and Research Centre, 1999.

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9

Beck, M., Deborah Elstein, and Gheona Altarescu. Fabry disease. Springer, 2010.

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10

1935-, Graucob E., ed. Hematologic cytology of storage diseases. Springer-Verlag, 1985.

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Capitoli di libri sul tema "Lysosomal storage diseases"

1

Ozand, Pinar T., and Mohammed Al-Essa. "Lysosomal Storage Diseases." In Textbook of Clinical Pediatrics. Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-642-02202-9_39.

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2

Ferns, Janis M., and Stephen H. Halpern. "Lysosomal Storage Diseases." In Consults in Obstetric Anesthesiology. Springer International Publishing, 2018. http://dx.doi.org/10.1007/978-3-319-59680-8_98.

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3

Pastores, Gregory M. "Lysosomal Storage Diseases." In Neurochemical Mechanisms in Disease. Springer New York, 2010. http://dx.doi.org/10.1007/978-1-4419-7104-3_23.

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Imam, Ibrahim. "Lysosomal storage diseases." In 700 Essential Neurology Checklists. CRC Press, 2021. http://dx.doi.org/10.1201/9781003221258-99.

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Winchester, Bryan. "Classification of Lysosomal Storage Diseases." In Lysosomal Storage Disorders. John Wiley & Sons, Ltd, 2012. http://dx.doi.org/10.1002/9781118514672.ch5.

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O'Rourke, Erin, Dawn Laney, Cindy Morgan, Kim Mooney, and Jennifer Sullivan. "Genetic Counseling for Lysosomal Storage Diseases." In Lysosomal Storage Disorders. Springer US, 2007. http://dx.doi.org/10.1007/978-0-387-70909-3_13.

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Kent, Alastair, Christine Lavery, and Jeremy Manuel. "The Patient Perspective on Rare Diseases." In Lysosomal Storage Disorders. John Wiley & Sons, Ltd, 2012. http://dx.doi.org/10.1002/9781118514672.ch24.

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Winchester, Bryan. "Laboratory Diagnosis of Lysosomal Storage Diseases." In Lysosomal Storage Disorders. John Wiley & Sons, Ltd, 2012. http://dx.doi.org/10.1002/9781118514672.ch3.

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Brady, Roscoe O. "The Concept of Treatment in Lysosomal Storage Diseases." In Lysosomal Storage Disorders. Springer US, 2007. http://dx.doi.org/10.1007/978-0-387-70909-3_3.

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de Duve, Christian. "From Lysosomes to Storage Diseases and Back: A Personal Reminiscence." In Lysosomal Storage Disorders. Springer US, 2007. http://dx.doi.org/10.1007/978-0-387-70909-3_1.

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Atti di convegni sul tema "Lysosomal storage diseases"

1

Giugliano, Giusy, Michela Schiavo, Daniele Pirone, et al. "Investigation on lysosomal accumulation by a quantitative analysis of 2D phase-maps in digital holography microscopy." In Digital Holography and Three-Dimensional Imaging. Optica Publishing Group, 2024. http://dx.doi.org/10.1364/dh.2024.th2a.6.

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Abstract (sommario):
Quantitative Phase Imaging through Digital Holography (QPI-DH) represents a quantitative and label-free method to detect lysosomal dysfunction in cells. Testing in the cellular model of Mucopolysaccharidosis type III-A, a lysosomal storage disease, demonstrate its potential.
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Krželj, Vjekoslav, and Ivana Čulo Čagalj. "INHERITED METABOLIC DISORDERS AND HEART DISEASES." In Symposium with International Participation HEART AND … Akademija nauka i umjetnosti Bosne i Hercegovine, 2019. http://dx.doi.org/10.5644/pi2019.181.02.

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Abstract (sommario):
Inherited metabolic disorders can cause heart diseases, cardiomyopathy in particular, as well as cardiac arrhythmias, valvular and coronary diseases. More than 40 different inherited metabolic disorders can provoke cardiomyopathy, including lysosomal storage disorders, fatty acid oxidation defects, organic acidemias, amino acidopathies, glycogen storage diseases, congenital disorders of glycosylation as well as peroxisomal and mitochondrial disorders. If identified and diagnosed on time, some of congenital metabolic diseases could be successfully treated. It is important to assume them in case
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Medina, Diego. "Combining high-content imaging and repurposing of approved drugs to tackle lysosomal storage diseases." In Optical Methods for Inspection, Characterization, and Imaging of Biomaterials VI, edited by Pietro Ferraro, Simonetta Grilli, and Demetri Psaltis. SPIE, 2023. http://dx.doi.org/10.1117/12.2675267.

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4

Alblooshi, Afaf, Abdul-Kader Souid, and Fatma Al Jasmi. "The Usefulness of Forced Oscillation Technique to assess lung functions in Patients with Lysosomal Storage Diseases." In ERS International Congress 2018 abstracts. European Respiratory Society, 2018. http://dx.doi.org/10.1183/13993003.congress-2018.pa2413.

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Decker, Christine, Katharina Kranz, Kristine Adam, Charlotte Thiels, Cornelia Köhler, and Thomas Lücke. "P 326. Developments in Stem Cell Transplantation in Lysosomal Storage Diseases—An Update on the Example of Mucopolysaccharidoses." In Abstracts of the 44th Annual Meeting of the Society for Neuropediatrics. Georg Thieme Verlag KG, 2018. http://dx.doi.org/10.1055/s-0038-1676012.

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Guimarães, Matheus Procópio, Isabella Cristina Muniz Honorato, Diógenes Emanuel Dantas da Silva, et al. "A 26-year-old woman presenting with a history of epileptic crisis, ataxia and cognitive impairment." In XIV Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2023. http://dx.doi.org/10.5327/1516-3180.141s1.645.

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Abstract (sommario):
A 26-year-old woman was referred to a neurology outpatient clinic due to a 9-month history of generalized tonic-clonic seizures, gradually more frequent since onset. She additionally reports developing insidiously over four years ago, an asymmetrical tremor in the upper limbs (worse on the right hand), difficulty walking, speech disorders and decreased visual acuity on the right eye. She had a past medical history of major depressive disorder, but normal neuropsychomotor development in childhood, and did not drink alcohol or smoke tobacco. There is no family history of neurological conditions
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