Results 21 to 30 of about 7,107 (122)
Journal of Lipid Research, 2011 Niemann-Pick disease, type C (NP-C), often associated with Niemann-Pick disease, type C1 (NPC1) mutations, is a cholesterol-storage disorder characterized by cellular lipid accumulation, neurodegeneration, and reduced steroid production.
Tyler Schwend +3 more
doaj +1 more source
Coordinate regulation of mutant NPC1 degradation by selective ER autophagy and MARCH6-dependent ERAD
Nature Communications, 2018 Niemann-Pick type C1 disease is most commonly caused by the allele NPC1 I1061T, which is misfolded in the ER and rapidly degraded by the ubiquitin proteasome system. Here the authors show that the I1061T mutant is also degraded by ER-phagy.
Mark L. Schultz +8 more
doaj +1 more source
The role of the Niemann-Pick disease, type C1 protein in adipocyte insulin action. [PDF]
PLoS ONE, 2014 The Niemann-Pick disease, type C1 (NPC1) gene encodes a transmembrane protein involved in cholesterol efflux from the lysosome. SNPs within NPC1 have been associated with obesity and type 2 diabetes, and mice heterozygous or null for NPC1 are insulin ...
Rachael Fletcher +7 more
doaj +1 more source
Impaired Autophagy in the Lipid-Storage Disorder Niemann-Pick Type C1 Disease
Cell Reports, 2013 Autophagy dysfunction has been implicated in misfolded protein accumulation and cellular toxicity in several diseases. Whether alterations in autophagy also contribute to the pathology of lipid-storage disorders is not clear.
Sovan Sarkar +13 more
doaj +1 more source
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1. [PDF]
PLoS ONE, 2017 2-Hydroxypropyl-beta-cyclodextrin (HPβCD) has gained recent attention as a potential therapeutic intervention in the treatment of the rare autosomal-recessive, neurodegenerative lysosomal storage disorder Niemann-Pick Disease Type C1 (NPC1).
Alfred L Yergey +5 more
doaj +1 more source
Stem Cell Research, 2020 Niemann-Pick disease type C1 (NPC1) is a rare inherited lipid storage disorder caused by mutations in the NPC1 gene. Mutations lead to impaired lipid trafficking and subsequently to accumulation of cholesterol and sphingolipids.
Christin Völkner +9 more
doaj +1 more source
Altered gene expression in the liver and small intestine of horses with equine neuroaxonal dystrophy
Equine Veterinary Journal, EarlyView.Abstract Background Equine neuroaxonal dystrophy/degenerative myeloencephalopathy (eNAD/EDM) is the second most common diagnosis of spinal ataxia in horses in the United States. The disease develops due to a combination of vitamin E deficiency and an unknown genetic risk factor(s), and there currently is no effective treatment.
Stephanie Ryan +4 more
wiley +1 more source
Diabetes, Obesity and Metabolism, EarlyView.ABSTRACT Diabetes mellitus (DM) and chronic kidney disease (CKD) frequently coexist and together create a ‘triple threat’ with dyslipidaemia, enhancing the risk for cardiovascular morbidity and mortality. Diabetic kidney disease (DKD) leads to altered lipid metabolism through insulin resistance, inflammation and oxidative stress resulting in an ...
Ann S. Forrest +3 more
wiley +1 more source
Unique molecular signature in mucolipidosis type IV microglia
Journal of Neuroinflammation, 2019 Background Lysosomal storage diseases (LSD) are a large family of inherited disorders characterized by abnormal endolysosomal accumulation of cellular material due to catabolic enzyme and transporter deficiencies.
Antony Cougnoux +12 more
doaj +1 more source
Experimental Physiology, EarlyView.Abstract The aim of this systematic review and meta‐analysis was to evaluate comprehensively the therapeutic potential of Abelmoschus esculentus (okra) supplementation across the diabetes spectrum of key metabolic risk factors. A search was conducted in PubMed, Scopus, Web of Science, EMBASE and the Cochrane Library, up to 23 July 2025, to identify ...
Ali Jafari +7 more
wiley +1 more source