Results 11 to 20 of about 154,911 (267)
Journal of Nepal Medical Association, 2009 We report a case of lysosomal storage disease diagnosed by lysosomal enzyme assay in a two year old boy with a history of gradual onset of weakness of body, poor vision, fl accid neck and spasticity in all four limbs with hyper-refl exia.
Binod Khatiwada, A Pokharel
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The lysosome and neurodegenerative diseases [PDF]
Acta Biochimica et Biophysica Sinica, 2009 It has long been believed that the lysosome is an important digestive organelle. There is increasing evidence that the lysosome is also involved in pathogenesis of a variety of neurodegenerative diseases, including Alzheimer's disease, Parkinson's disease, Huntington's disease, and amyotrophic lateral sclerosis.
Lisha, Zhang, Rui, Sheng, Zhenghong, Qin
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Journal of Lipid Research, 2011 A central feature of Niemann-Pick Type C (NPC) disease is sequestration of cholesterol and glycosphingolipids in lysosomes. A large phenotypic variability, on both a clinical as well as a molecular level, challenges NPC diagnosis.
Carolina Tängemo +4 more
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Tau accumulation in degradative organelles is associated to lysosomal stress
Scientific Reports, 2023 Neurodegenerative disorders are characterized by the brain deposition of insoluble amyloidogenic proteins, such as α-synuclein or Tau, and the concomitant deterioration of cell functions such as the autophagy-lysosomal pathway (ALP).
Ester Piovesana +7 more
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Cell and Gene Therapies for Mucopolysaccharidoses: Base Editing and Therapeutic Delivery to the CNS
Diseases, 2019 Although individually uncommon, rare diseases collectively account for a considerable proportion of disease impact worldwide. A group of rare genetic diseases called the mucopolysaccharidoses (MPSs) are characterized by accumulation of partially degraded
Chloe L. Christensen +2 more
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Clinical case of lysosomic acid lipase deficiency – cholesterol ethers accumulation diseases
Лечащий Врач, 2022 Lysosomal acid lipase deficiency is a rare hereditary fermentopathy. Cholesterol ester accumulation disease – one of the two forms of lysosomal acid lipase deficiency – is a hereditary autosomal recessive lysosomal accumulation disease caused by ...
E. V. Savelieva +6 more
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Translational Science of Rare Diseases, 2016 Lysosomes are cytoplasmic organelles that contain a variety of different hydrolases. A genetic deficiency in the enzymatic activity of one of these hydrolases will lead to the accumulation of the material meant for lysosomal degradation. Examples include glycogen in the case of Pompe disease, glycosaminoglycans in the case of the mucopolysaccharidoses,
Ferreira, Carlos R., Gahl, William A.
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JIMD Reports, 2020 Lysosomal diseases (LD) are a group of about 70 rare hereditary disorders (combined incidence 1:5000) in which diverse lysosomal functions are impaired, impacting multiple organs and systems.
Gloria Muñoz +11 more
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Nature Communications, 2023 Batten disease, one of the most devastating types of neurodegenerative lysosomal storage disorders, is caused by mutations in CLN3. Here, we show that CLN3 is a vesicular trafficking hub connecting the Golgi and lysosome compartments.
Alessia Calcagni’ +21 more
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GM1 Gangliosidosis Type 1 and Mongolian Spots
Pediatric Neurology Briefs, 2013 Investigators in Sao Paulo, Brazil, report a female infant born at term to healthy consanguineous parents who was examined at 9 months for delayed development.
J Gordon Millichap
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