Now showing items 1-10 of 163
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 ...
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 ...
Utilidad de la biopsia de piel en el diagnóstico de enfermedades neurológicas
(Sociedad Médica de Santiago, 2008)