Acceder

Bibliografías temáticas / Lysosomal storage diseases / Artículos de revistas

Siga este enlace para ver otros tipos de publicaciones sobre el tema: Lysosomal storage diseases.

Artículos de revistas sobre el tema "Lysosomal storage diseases"

Autor: Grafiati

Publicado: 4 de junio de 2021

Última modificación: 25 de julio de 2025

Crea una cita precisa en los estilos APA, MLA, Chicago, Harvard y otros

Elija tipo de fuente:

Consulte los 50 mejores artículos de revistas para su investigación sobre el tema "Lysosomal storage diseases".

Junto a cada fuente en la lista de referencias hay un botón "Agregar a la bibliografía". Pulsa este botón, y generaremos automáticamente la referencia bibliográfica para la obra elegida en el estilo de cita que necesites: APA, MLA, Harvard, Vancouver, Chicago, etc.

También puede descargar el texto completo de la publicación académica en formato pdf y leer en línea su resumen siempre que esté disponible en los metadatos.

Explore artículos de revistas sobre una amplia variedad de disciplinas y organice su bibliografía correctamente.

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.

Texto completo

Resumen

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

Los estilos APA, Harvard, Vancouver, ISO, etc.

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.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

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.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

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.

Texto completo

Resumen

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

Los estilos APA, Harvard, Vancouver, ISO, etc.

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.

Texto completo

Resumen

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

Los estilos APA, Harvard, Vancouver, ISO, etc.

6

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.

Texto completo

Resumen

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

Los estilos APA, Harvard, Vancouver, ISO, etc.

7

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.

Texto completo

Resumen

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

Los estilos APA, Harvard, Vancouver, ISO, etc.

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.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

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.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

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.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

11

Alroy, Joseph, and Jeremiah A. Lyons. "Lysosomal Storage Diseases." Journal of Inborn Errors of Metabolism and Screening 2 (March 7, 2014): 232640981351766. http://dx.doi.org/10.1177/2326409813517663.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

12

Richtsfeld, Martina, and Kumar G. Belani. "Lysosomal Storage Diseases." Anesthesia & Analgesia 125, no. 3 (2017): 716–18. http://dx.doi.org/10.1213/ane.0000000000001887.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

13

Gieselmann, Volkmar. "Lysosomal storage diseases." Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 1270, no. 2-3 (1995): 103–36. http://dx.doi.org/10.1016/0925-4439(94)00075-2.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

14

Kaye, Edward M. "Lysosomal storage diseases." Current Treatment Options in Neurology 3, no. 3 (2001): 249–56. http://dx.doi.org/10.1007/s11940-001-0006-9.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

15

Zeng, Wenping, Canjun Li, Ruikun Wu, et al. "Optogenetic manipulation of lysosomal physiology and autophagy-dependent clearance of amyloid beta." PLOS Biology 22, no. 4 (2024): e3002591. http://dx.doi.org/10.1371/journal.pbio.3002591.

Texto completo

Resumen

Lysosomes are degradation centers of cells and intracellular hubs of signal transduction, nutrient sensing, and autophagy regulation. Dysfunction of lysosomes contributes to a variety of diseases, such as lysosomal storage diseases (LSDs) and neurodegeneration, but the mechanisms are not well understood. Altering lysosomal activity and examining its impact on the occurrence and development of disease is an important strategy for studying lysosome-related diseases. However, methods to dynamically regulate lysosomal function in living cells or animals are still lacking. Here, we constructed lyso

Los estilos APA, Harvard, Vancouver, ISO, etc.

16

Onyenwoke, Rob U., and Jay E. Brenman. "Lysosomal Storage Diseases-Regulating Neurodegeneration." Journal of Experimental Neuroscience 9s2 (January 2015): JEN.S25475. http://dx.doi.org/10.4137/jen.s25475.

Texto completo

Resumen

Autophagy is a complex pathway regulated by numerous signaling events that recycles macromolecules and can be perturbed in lysosomal storage diseases (LSDs). The concept of LSDs, which are characterized by aberrant, excessive storage of cellular material in lysosomes, developed following the discovery of an enzyme deficiency as the cause of Pompe disease in 1963. Great strides have since been made in better understanding the biology of LSDs. Defective lysosomal storage typically occurs in many cell types, but the nervous system, including the central nervous system and peripheral nervous syste

Los estilos APA, Harvard, Vancouver, ISO, etc.

17

Platt, Frances M., Barry Boland, and Aarnoud C. van der Spoel. "Lysosomal storage disorders: The cellular impact of lysosomal dysfunction." Journal of Cell Biology 199, no. 5 (2012): 723–34. http://dx.doi.org/10.1083/jcb.201208152.

Texto completo

Resumen

Lysosomal storage diseases (LSDs) are a family of disorders that result from inherited gene mutations that perturb lysosomal homeostasis. LSDs mainly stem from deficiencies in lysosomal enzymes, but also in some non-enzymatic lysosomal proteins, which lead to abnormal storage of macromolecular substrates. Valuable insights into lysosome functions have emerged from research into these diseases. In addition to primary lysosomal dysfunction, cellular pathways associated with other membrane-bound organelles are perturbed in these disorders. Through selective examples, we illustrate why the term “c

Los estilos APA, Harvard, Vancouver, ISO, etc.

18

Vogler, Carole, and Harvey S. Rosenberg. "Electron Microscopy in the diagnosis of lysosomal storage diseases." Proceedings, annual meeting, Electron Microscopy Society of America 47 (August 6, 1989): 866–67. http://dx.doi.org/10.1017/s0424820100156316.

Texto completo

Resumen

Diagnostic procedures for evaluation of patients with lysosomal storage diseases (LSD) seek to identify a deficiency of a responsible lysosomal enzyme or accumulation of a substance that requires the missing enzyme for degradation. Most patients with LSD have progressive neurological degeneration and may have a variety of musculoskeletal and visceral abnormalities. In the LSD, the abnormally diminished lysosomal enzyme results in accumulation of unmetabolized catabolites in distended lysosomes. Because of the subcellular morphology and size of lysosomes, electron microscopy is an ideal tool to

Los estilos APA, Harvard, Vancouver, ISO, etc.

19

Heard, Jean Michel, Julie Bruyère, Elise Roy, Stéphanie Bigou, Jérôme Ausseil, and Sandrine Vitry. "Storage problems in lysosomal diseases." Biochemical Society Transactions 38, no. 6 (2010): 1442–47. http://dx.doi.org/10.1042/bst0381442.

Texto completo

Resumen

Biochemical disorders in lysosomal storage diseases consist of the interruption of metabolic pathways involved in the recycling of the degradation products of one or several types of macromolecules. The progressive accumulation of these primary storage products is the direct consequence of the genetic defect and represents the initial pathogenic event. Downstream consequences for the affected cells include the accumulation of secondary storage products and the formation of histological storage lesions, which appear as intracellular vacuoles that represent the pathological hallmark of lysosomal

Los estilos APA, Harvard, Vancouver, ISO, etc.

20

Maegawa, Gustavo H. B. "Lysosomal Leukodystrophies Lysosomal Storage Diseases Associated With White Matter Abnormalities." Journal of Child Neurology 34, no. 6 (2019): 339–58. http://dx.doi.org/10.1177/0883073819828587.

Texto completo

Resumen

The leukodystrophies are a group of genetic metabolic diseases characterized by an abnormal development or progressive degeneration of the myelin sheath. The myelin is a complex sheath composed of several macromolecules covering axons as an insulator. Each of the leukodystrophies is caused by mutations in genes encoding enzymes that are involved in myelin production and maintenance. The lysosomal storage diseases are inborn disorders of compartmentalized cellular organelles with broad clinical manifestations secondary to the progressive accumulation of undegraded macromolecules within lysosome

Los estilos APA, Harvard, Vancouver, ISO, etc.

21

Schulze, H., and K. Sandhoff. "Lysosomal Lipid Storage Diseases." Cold Spring Harbor Perspectives in Biology 3, no. 6 (2011): a004804. http://dx.doi.org/10.1101/cshperspect.a004804.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

22

Schultz, Mark L., Luis Tecedor, Michael Chang, and Beverly L. Davidson. "Clarifying lysosomal storage diseases." Trends in Neurosciences 34, no. 8 (2011): 401–10. http://dx.doi.org/10.1016/j.tins.2011.05.006.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

23

Martina, José A., Nina Raben, and Rosa Puertollano. "SnapShot: Lysosomal Storage Diseases." Cell 180, no. 3 (2020): 602–602. http://dx.doi.org/10.1016/j.cell.2020.01.017.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

24

Werber, Yaron. "Lysosomal storage diseases market." Nature Reviews Drug Discovery 3, no. 1 (2004): 9–10. http://dx.doi.org/10.1038/nrd1286.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

25

Morand, Olivier, and Hélène Peyro-Saint-Paul. "Lysosomal storage diseases market." Nature Reviews Drug Discovery 3, no. 1 (2004): 98. http://dx.doi.org/10.1038/nrd1286-c2.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

26

De Pasquale, Valeria, Melania Scarcella, and Luigi Michele Pavone. "Molecular Mechanisms in Lysosomal Storage Diseases: From Pathogenesis to Therapeutic Strategies." Biomedicines 10, no. 4 (2022): 922. http://dx.doi.org/10.3390/biomedicines10040922.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

27

Winchester, B., A. Vellodi, and E. Young. "The molecular basis of lysosomal storage diseases and their treatment." Biochemical Society Transactions 28, no. 2 (2000): 150–54. http://dx.doi.org/10.1042/bst0280150.

Texto completo

Resumen

The lysosomal system is the main intracellular mechanism for the catabolism of naturally occurring endogenous and exogenous macromolecules and the subsequent recycling of their constituent monomeric components. It also plays an important part in processing essential metabolites. A genetic defect in a protein responsible for maintaining the lysosomal system results in the accumulation within lysosomes of partially degraded molecules, the initial step in the process leading to a lysosomal storage disease. The defective protein can be a luminal lysosomal enzyme or protein cofactor, a lysosomal me

Los estilos APA, Harvard, Vancouver, ISO, etc.

28

Liu, Wanxue, Yiming Li, Yuhan Bao, and Zhi-Yong Tan. "Lysosomal ion channels and pain." PAIN Reports 10, no. 4 (2025): e1282. https://doi.org/10.1097/pr9.0000000000001282.

Texto completo

Resumen

Abstract Lysosomes are recycling centers of nearly all types of eukaryotic cells. Lysosomal ion channels maintain ion homeostasis of lysosomes and exchange ions with neighboring cytoplasm and subcellular structures. In these ways, lysosomal ion channels contribute to major function of lysosomes such as autophagy and lysosomal exocytosis. Deficiency in some lysosomal ion channels results in lysosome storage disorders such as mucolipidosis IV that is associated with early-onset neurodegeneration. Moreover, lysosomal ion channels are involved in a variety of conditions such as cancer, infectious

Los estilos APA, Harvard, Vancouver, ISO, etc.

29

Tikkanen, Ritva. "A Journey towards Understanding the Molecular Pathology and Developing Therapies for Lysosomal Storage Disorders." Cells 11, no. 1 (2021): 36. http://dx.doi.org/10.3390/cells11010036.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

30

Seranova, Elena, Kyle J. Connolly, Malgorzata Zatyka, et al. "Dysregulation of autophagy as a common mechanism in lysosomal storage diseases." Essays in Biochemistry 61, no. 6 (2017): 733–49. http://dx.doi.org/10.1042/ebc20170055.

Texto completo

Resumen

The lysosome plays a pivotal role between catabolic and anabolic processes as the nexus for signalling pathways responsive to a variety of factors, such as growth, nutrient availability, energetic status and cellular stressors. Lysosomes are also the terminal degradative organelles for autophagy through which macromolecules and damaged cellular components and organelles are degraded. Autophagy acts as a cellular homeostatic pathway that is essential for organismal physiology. Decline in autophagy during ageing or in many diseases, including late-onset forms of neurodegeneration is considered a

Los estilos APA, Harvard, Vancouver, ISO, etc.

31

Fernández-Pereira, Carlos, Beatriz San Millán-Tejado, María Gallardo-Gómez, et al. "Therapeutic Approaches in Lysosomal Storage Diseases." Biomolecules 11, no. 12 (2021): 1775. http://dx.doi.org/10.3390/biom11121775.

Texto completo

Resumen

Lysosomal Storage Diseases are multisystemic disorders determined by genetic variants, which affect the proteins involved in lysosomal function and cellular metabolism. Different therapeutic approaches, which are based on the physiologic mechanisms that regulate lysosomal function, have been proposed for these diseases. Currently, enzyme replacement therapy, gene therapy, or small molecules have been approved or are under clinical development to treat lysosomal storage disorders. The present article reviews the main therapeutic strategies that have been proposed so far, highlighting possible l

Los estilos APA, Harvard, Vancouver, ISO, etc.

32

Gorbunova, Viktoria N., Natalia V. Buchinskaia, Lidia V. Liazina, and Anastasia O. Vechkasova. "Lysosomal storage diseases. Sphingolipidoses — gangliosidoses." Pediatrician (St. Petersburg) 14, no. 4 (2023): 93–111. http://dx.doi.org/10.17816/ped14493-111.

Texto completo

Resumen

Epidemiology, clinical, biochemical and molecular genetic characteristics of gangliosidoses, genetically heterogeneous group of autosomal recessive diseases caused by hereditary deficiency of lysosomal glycohydrolases involved in the catabolism of GM1-, GM2- and GA2-gangliosides, are presented. Three clinical forms of GM1 gangliosidosis are caused by hereditary deficiency of lysosomal β-galactosidase, one of the activities of which is the release of galactose from carbohydrate complexes. As a result, GM1-ganglioside and, to a lesser extent, keratan sulfate accumulate in the lysosomes of neuron

Los estilos APA, Harvard, Vancouver, ISO, etc.

33

Bobillo Lobato, Joaquin, Maria Jiménez Hidalgo, and Luis Jiménez Jiménez. "Biomarkers in Lysosomal Storage Diseases." Diseases 4, no. 4 (2016): 40. http://dx.doi.org/10.3390/diseases4040040.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

34

Scarpa, Maurizio, and Yoshikatsu Eto. "Lysosomal storage diseases: new challenges." Acta Paediatrica 97, s457 (2008): 5–6. http://dx.doi.org/10.1111/j.1651-2227.2008.00645.x.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

35

Rapola, J. "Lysosomal Storage Diseases in Adults." Pathology - Research and Practice 190, no. 8 (1994): 759–66. http://dx.doi.org/10.1016/s0344-0338(11)80422-x.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

36

Rama Rao, K. V., and T. Kielian. "Astrocytes and lysosomal storage diseases." Neuroscience 323 (May 2016): 195–206. http://dx.doi.org/10.1016/j.neuroscience.2015.05.061.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

37

Jolly, Robert D. "Lysosomal Storage Diseases in Livestock." Veterinary Clinics of North America: Food Animal Practice 9, no. 1 (1993): 41–53. http://dx.doi.org/10.1016/s0749-0720(15)30670-8.

Texto completo

Los estilos APA, Harvard, Vancouver, ISO, etc.

38

Gorbunova, Victoria N., Natalia V. Buchinskaia, Anastasia O. Vechkasova, and Varvara S. Kruglova. "Lysosomal storage diseases. Sphingolipidoses – leukodystrophy." Pediatrician (St. Petersburg) 14, no. 6 (2024): 89–112. http://dx.doi.org/10.17816/ped626382.

Texto completo

Resumen

Epidemiological, clinical, biochemical and molecular-genetic characteristics of lysosomal leukodystrophies are presented, which include metachromatic leukodystrophy, globoid cell leukodystrophy, or Krabbe disease, combined saposin and multiple sulfatase deficiency. The pathogenesis of metachromatic and globoid cell leukodystrophy is based on hereditary deficiency of two lysosomal enzymes — arylsulfatase A and galactocerebrosidase, accompanied by excessive accumulation of galactosphingosulfatides and galactosylceramide, respectively. The consequence of this is demyelination of the central and p

Los estilos APA, Harvard, Vancouver, ISO, etc.

39

van Eijk, Marco, Maria J. Ferraz, Rolf G. Boot, and Johannes M. F. G. Aerts. "Lyso-glycosphingolipids: presence and consequences." Essays in Biochemistry 64, no. 3 (2020): 565–78. http://dx.doi.org/10.1042/ebc20190090.

Texto completo

Resumen

Abstract Lyso-glycosphingolipids are generated in excess in glycosphingolipid storage disorders. In the course of these pathologies glycosylated sphingolipid species accumulate within lysosomes due to flaws in the respective lipid degrading machinery. Deacylation of accumulating glycosphingolipids drives the formation of lyso-glycosphingolipids. In lysosomal storage diseases such as Gaucher Disease, Fabry Disease, Krabbe disease, GM1 -and GM2 gangliosidosis, Niemann Pick type C and Metachromatic leukodystrophy massive intra-lysosomal glycosphingolipid accumulation occurs. The lysosomal enzyme

Los estilos APA, Harvard, Vancouver, ISO, etc.

40

Gorbunova, V. N., and N. V. Buchinskaya. "Lysosomal storage diseases. Mucopolysaccharidosis type III, sanfilippo syndrome." Pediatrician (St. Petersburg) 12, no. 4 (2021): 69–81. http://dx.doi.org/10.17816/ped12469-81.

Texto completo

Resumen

The review describes the clinical, biochemical and molecular genetic characteristics of autosomal recessive mucopolysaccharidosis type III, or Sanfilippo syndrome. This is a genetically heterogeneous group of rare, but similar in nature, diseases caused by a deficiency of one of the four lysosomal enzymes involved in the degradation of heparan sulfate. All types of mucopolysaccharidosis III are characterized by severe degeneration of the central nervous system in combination with mild somatic manifestations, which is explained by the accumulation of high concentrations of heparan sulfate in th

Los estilos APA, Harvard, Vancouver, ISO, etc.

41

Jolly, R. D., and S. U. Walkley. "Lysosomal Storage Diseases of Animals: An Essay in Comparative Pathology." Veterinary Pathology 34, no. 6 (1997): 527–48. http://dx.doi.org/10.1177/030098589703400601.

Texto completo

Resumen

A wide variety of inherited lysosomal hydrolase deficiencies have been reported in animals and are characterized by accumulation of sphingolipids, glycolipids, oligosaccharides, or mucopolysaccharides within lysosomes. Inhibitors of a lysosomal hydrolase, e.g., swainsonine, may also induce storage disease. Another group of lysosomal storage diseases, the ceroid-lipofuscinoses, involve the accumulation of hydrophobic proteins, but their pathogenesis is unclear. Some of these diseases are of veterinary importance, and those caused by a hydrolase deficiency can be controlled by detection of heter

Los estilos APA, Harvard, Vancouver, ISO, etc.

42

Ivanova, Margarita. "Altered Sphingolipids Metabolism Damaged Mitochondrial Functions: Lessons Learned From Gaucher and Fabry Diseases." Journal of Clinical Medicine 9, no. 4 (2020): 1116. http://dx.doi.org/10.3390/jcm9041116.

Texto completo

Resumen

Sphingolipids represent a class of bioactive lipids that modulate the biophysical properties of biological membranes and play a critical role in cell signal transduction. Multiple studies have demonstrated that sphingolipids control crucial cellular functions such as the cell cycle, senescence, autophagy, apoptosis, cell migration, and inflammation. Sphingolipid metabolism is highly compartmentalized within the subcellular locations. However, the majority of steps of sphingolipids metabolism occur in lysosomes. Altered sphingolipid metabolism with an accumulation of undigested substrates in ly

Los estilos APA, Harvard, Vancouver, ISO, etc.

43

Pandey, Manoj Kumar. "Exploring Pro-Inflammatory Immunological Mediators: Unraveling the Mechanisms of Neuroinflammation in Lysosomal Storage Diseases." Biomedicines 11, no. 4 (2023): 1067. http://dx.doi.org/10.3390/biomedicines11041067.

Texto completo

Resumen

Lysosomal storage diseases are a group of rare and ultra-rare genetic disorders caused by defects in specific genes that result in the accumulation of toxic substances in the lysosome. This excess accumulation of such cellular materials stimulates the activation of immune and neurological cells, leading to neuroinflammation and neurodegeneration in the central and peripheral nervous systems. Examples of lysosomal storage diseases include Gaucher, Fabry, Tay–Sachs, Sandhoff, and Wolman diseases. These diseases are characterized by the accumulation of various substrates, such as glucosylceramide

Los estilos APA, Harvard, Vancouver, ISO, etc.

44

Blumenreich, Shani, Or B. Barav, Bethan J. Jenkins, and Anthony H. Futerman. "Lysosomal Storage Disorders Shed Light on Lysosomal Dysfunction in Parkinson’s Disease." International Journal of Molecular Sciences 21, no. 14 (2020): 4966. http://dx.doi.org/10.3390/ijms21144966.

Texto completo

Resumen

The lysosome is a central player in the cell, acting as a clearing house for macromolecular degradation, but also plays a critical role in a variety of additional metabolic and regulatory processes. The lysosome has recently attracted the attention of neurobiologists and neurologists since a number of neurological diseases involve a lysosomal component. Among these is Parkinson’s disease (PD). While heterozygous and homozygous mutations in GBA1 are the highest genetic risk factor for PD, studies performed over the past decade have suggested that lysosomal loss of function is likely involved in

Los estilos APA, Harvard, Vancouver, ISO, etc.

45

Gieselmann, Volkmar, Ulrich Matzner, Diana Klein, et al. "Gene therapy: prospects for glycolipid storage diseases." Philosophical Transactions of the Royal Society of London. Series B: Biological Sciences 358, no. 1433 (2003): 921–25. http://dx.doi.org/10.1098/rstb.2003.1277.

Texto completo

Resumen

Lysosomal storage diseases comprise a group of about 40 disorders, which in most cases are due to the deficiency of a lysosomal enzyme. Since lysosomal enzymes are involved in the degradation of various compounds, the diseases can be further subdivided according to which pathway is affected. Thus, enzyme deficiencies in the degradation pathway of glycosaminoglycans cause mucopolysaccharidosis, and deficiencies affecting glycopeptides cause glycoproteinosis. In glycolipid storage diseases enzymes are deficient that are involved in the degradation of sphingolipids. Mouse models are available for

Los estilos APA, Harvard, Vancouver, ISO, etc.

46

E.I, Bon. "Immunohistochemical Markers of Lysosomes, the Possibility of Using in Experimental and Clinical Medicinew." Journal of Clinical Case Reports and Studies 3, no. 3 (2022): 01–05. http://dx.doi.org/10.31579/2690-8808/103.

Texto completo

Resumen

Lysosomes are involved in cellular waste degradation and recycling, along with cellular signaling and energy metabolism. Lysosomal storage disorders occur due to the abnormality in genes which are encoding lysosomal proteins. This work aims to emphasize the usage of different lysosomal antibodies during the study of the structure and functions of lysosomes and the investigation of different types of pathological diseases related to lysosomal functions. This may present the characteristics of those antibodies according to a classification that mainly depends on the localization of their targets

Los estilos APA, Harvard, Vancouver, ISO, etc.

47

Alhowyan, Adel A., and Gamaleldin I. Harisa. "From Molecular Therapies to Lysosomal Transplantation and Targeted Drug Strategies: Present Applications, Limitations, and Future Prospects of Lysosomal Medications." Biomolecules 15, no. 3 (2025): 327. https://doi.org/10.3390/biom15030327.

Texto completo

Resumen

Lysosomes are essential intracellular organelles involved in plentiful cellular processes such as cell signaling, metabolism, growth, apoptosis, autophagy, protein processing, and maintaining cellular homeostasis. Their dysfunction is linked to various diseases, including lysosomal storage disorders, inflammation, cancer, cardiovascular diseases, neurodegenerative conditions, and aging. This review focuses on current and emerging therapies for lysosomal diseases (LDs), including small medicines, enzyme replacement therapy (ERT), gene therapy, transplantation, and lysosomal drug targeting (LDT)

Los estilos APA, Harvard, Vancouver, ISO, etc.

48

Feng, Xinghua, Zhuangzhuang Zhao, Qian Li, and Zhiyong Tan. "Lysosomal Potassium Channels: Potential Roles in Lysosomal Function and Neurodegenerative Diseases." CNS & Neurological Disorders - Drug Targets 17, no. 4 (2018): 261–66. http://dx.doi.org/10.2174/1871527317666180202110717.

Texto completo

Resumen

Background & Objective: The lysosome is a membrane-enclosed organelle widely found in every eukaryotic cell. It has been deemed as the stomach of the cells. Recent studies revealed that it also functions as an intracellular calcium store and is a platform for nutrient-dependent signal transduction. Similar with the plasma membrane, the lysosome membrane is furnished with various proteins, including pumps, ion channels and transporters. So far, two types of lysosomal potassium channels have been identified: large-conductance and Ca2+-activated potassium channel (BK) and TMEM175. TMEM175 has

Los estilos APA, Harvard, Vancouver, ISO, etc.

49

Uribe-Carretero, Elisabet, Verónica Rey, Jose Manuel Fuentes, and Isaac Tamargo-Gómez. "Lysosomal Dysfunction: Connecting the Dots in the Landscape of Human Diseases." Biology 13, no. 1 (2024): 34. http://dx.doi.org/10.3390/biology13010034.

Texto completo

Resumen

Lysosomes are the main organelles responsible for the degradation of macromolecules in eukaryotic cells. Beyond their fundamental role in degradation, lysosomes are involved in different physiological processes such as autophagy, nutrient sensing, and intracellular signaling. In some circumstances, lysosomal abnormalities underlie several human pathologies with different etiologies known as known as lysosomal storage disorders (LSDs). These disorders can result from deficiencies in primary lysosomal enzymes, dysfunction of lysosomal enzyme activators, alterations in modifiers that impact lysos

Los estilos APA, Harvard, Vancouver, ISO, etc.

50

Peng, Wesley, Yvette C. Wong, and Dimitri Krainc. "Mitochondria-lysosome contacts regulate mitochondrial Ca2+dynamics via lysosomal TRPML1." Proceedings of the National Academy of Sciences 117, no. 32 (2020): 19266–75. http://dx.doi.org/10.1073/pnas.2003236117.

Texto completo

Resumen

Mitochondria and lysosomes are critical for cellular homeostasis, and dysfunction of both organelles has been implicated in numerous diseases. Recently, interorganelle contacts between mitochondria and lysosomes were identified and found to regulate mitochondrial dynamics. However, whether mitochondria–lysosome contacts serve additional functions by facilitating the direct transfer of metabolites or ions between the two organelles has not been elucidated. Here, using high spatial and temporal resolution live-cell microscopy, we identified a role for mitochondria–lysosome contacts in regulating

Los estilos APA, Harvard, Vancouver, ISO, etc.

Ofrecemos descuentos en todos los planes premium para autores cuyas obras están incluidas en selecciones literarias temáticas. ¡Contáctenos para obtener un código promocional único!