Now showing items 1-10 of 208
Lysosome motility and distribution: Relevance in health and disease
Lysosomes are dynamic organelles, which can fuse with a variety of targets and undergo constant regeneration. They can move along microtubules in a retrograde and anterograde fashion by using motor proteins, kinesin and ...
Genistein activates transcription factor EB and corrects Niemann–Pick C phenotype
Niemann-Pick type C disease (NPCD) is a lysosomal storage disease (LSD) characterized by abnormal cholesterol accumulation in lysosomes, impaired autophagy flux, and lysosomal dysfunction. The activation of transcription ...
Lysosomal and mitochondrial liaisons in Niemann-Pick Disease
Lysosomal storage disorders (LSD) are characterized by the accumulation of diverse lipid species in lysosomes. Niemann-Pick type NB (NPA/B) and type C diseases Niemann-Pick type C (NPC) are progressive LSD caused by loss ...
Pompe disease: Clinical perspectives
(Dove Medical, 2017)
Pompe disease (acid alpha-glucosidase deficiency, OMIM 232300) is a rare lysosomal storage disorder due to autosomal recessive mutations in the GAA gene. It has also been called acid maltase deficiency and glycogen storage ...
Utilidad de la biopsia de piel en el diagnóstico de enfermedades neurológicas
(Sociedad Médica de Santiago, 2008)
Lysosomal Storage Disease Caused by Sida carpinifolia Poisoning in Goats
(American College of Veterinary Pathologists, 2000-03)
A neurologic disease characterized by ataxia, hypermetria, hyperesthesia, and muscle tremors of the head and neck was observed for 2 years in a flock of 28 Anglo-Nubian and Saanen goats on a farm with 5 ha of pasture. Six ...