Results 31 to 40 of about 42,400 (289)
Disease Models & Mechanisms, 2016 Fucosidosis is a rare lysosomal storage disorder caused by the inherited deficiency of the lysosomal hydrolase α-L-fucosidase, which leads to an impaired degradation of fucosylated glycoconjugates.
Heike Wolf +8 more
doaj +1 more source
PLoS ONE, 2021 Infantile Neuronal Ceroid Lipofuscinosis (INCL) is a pediatric neurodegenerative disorder characterized by progressive retinal and central nervous system deterioration during infancy.
Bailey Balouch +4 more
doaj +1 more source
Acta Neuropathologica Communications, 2018 Homozygous mutation of TBC1 domain-containing kinase (TBCK) is the cause of a very recently defined severe childhood disorder, which is characterized by severe hypotonia, global developmental delay, intellectual disability, epilepsy, characteristic ...
Stefanie Beck-Wödl +8 more
doaj +1 more source
Alleviation of a polyglucosan storage disorder by enhancement of autophagic glycogen catabolism
EMBO Molecular Medicine, 2021 This work employs adult polyglucosan body disease (APBD) models to explore the efficacy and mechanism of action of the polyglucosan‐reducing compound 144DG11.
Or Kakhlon +21 more
doaj +1 more source
Cholesterol pathways affected by small molecules that decrease sterol levels in Niemann-Pick type C mutant cells. [PDF]
PLoS ONE, 2010 Niemann-Pick type C (NPC) disease is a genetically inherited multi-lipid storage disorder with impaired efflux of cholesterol from lysosomal storage organelles.The effect of screen-selected cholesterol lowering compounds on the major sterol pathways was ...
Madalina Rujoi +2 more
doaj +1 more source
Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum
Case Reports in Pediatrics, 2018 Lysosomal acid lipase (LAL) deficiency is an autosomal recessive lysosomal storage disorder caused by mutations in the LIPA gene that leads to premature organ damage and mortality.
Marco Antonio Curiati +4 more
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2014 Mucopolysaccharidosis type IVA or Morquio type-A disease is a hereditary lysosomal storage disorder caused by deficient activity of the lysosomal enzyme N-acetylgalactosamine-6-sulfate sulfatase (GALNS). The disease is caused by lysosomal accumulation of
Anirudh J. Ullal +2 more
doaj +1 more source
Analysis of the human diseasome reveals phenotype modules across common, genetic, and infectious diseases [PDF]
, 2014 Phenotypes are the observable characteristics of an organism arising from its response to the environment. Phenotypes associated with engineered and natural genetic variation are widely recorded using phenotype ontologies in model organisms, as are signs
Gkoutos, Georgios V +2 more
core +2 more sources
Tau is central in the genetic Alzheimer-frontotemporal dementia spectrum [PDF]
, 2005 In contrast to the common and genetically complex senile form of Alzheimer's disease (AD), the molecular genetic dissection of inherited presenile dementias has given important mechanistic insights into the pathogenesis of degenerative brain disease ...
Cruts, Marc +5 more
core +1 more source
Reduced lysosomal acid lipase activity: A new marker of liver disease severity across the clinical continuum of non-alcoholic fatty liver disease? [PDF]
, 2019 Lysosomal acid lipase (LAL) plays a key role in intracellular lipid metabolism. Reduced LAL activity promotes increased multi-organ lysosomal cholesterol ester storage, as observed in two recessive autosomal genetic diseases, Wolman disease and ...
Angelico, F +7 more
core +1 more source