Lysosomal storage disorders: The cellular impact of lysosomal dysfunction
Lysosomal storage diseases (LSDs) are a family of disorders that result from inherited gene
mutations that perturb lysosomal homeostasis. LSDs mainly stem from deficiencies in …
mutations that perturb lysosomal homeostasis. LSDs mainly stem from deficiencies in …
Lysosomal storage diseases
FM Platt, A d'Azzo, BL Davidson, EF Neufeld… - Nature reviews Disease …, 2018 - nature.com
Lysosomal storage diseases (LSDs) are a group of over 70 diseases that are characterized
by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These …
by lysosomal dysfunction, most of which are inherited as autosomal recessive traits. These …
Targeting glycosylation as a therapeutic approach
Increased understanding of the role of protein-and lipid-linked carbohydrates in a wide
range of biological processes has led to interest in drugs that target the enzymes involved in …
range of biological processes has led to interest in drugs that target the enzymes involved in …
bcl-2-immunoglobulin transgenic mice demonstrate extended B cell survival and follicular lymphoproliferation
Human follicular 6 cell lymphomas possess at (14; 18) interchromosomal translocation that
juxtaposes the putative proto-oncogene bcl-2 with the immunoglobulin (lg) heavy chain …
juxtaposes the putative proto-oncogene bcl-2 with the immunoglobulin (lg) heavy chain …
Autophagy induction and autophagosome clearance in neurons: relationship to autophagic pathology in Alzheimer's disease
Macroautophagy, a major pathway for organelle and protein turnover, has been implicated
in the neurodegeneration of Alzheimer's disease (AD). The basis for the profuse …
in the neurodegeneration of Alzheimer's disease (AD). The basis for the profuse …
Niemann-Pick disease type C1 is a sphingosine storage disease that causes deregulation of lysosomal calcium
E Lloyd-Evans, AJ Morgan, X He, DA Smith… - Nature medicine, 2008 - nature.com
Abstract Niemann-Pick type C1 (NPC1) disease is a neurodegenerative lysosomal storage
disorder caused by mutations in the acidic compartment (which we define as the late …
disorder caused by mutations in the acidic compartment (which we define as the late …
Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase
We identified an autosomal recessive infantile-onset symptomatic epilepsy syndrome
associated with developmental stagnation and blindness. Assuming a founder effect in a …
associated with developmental stagnation and blindness. Assuming a founder effect in a …
N-butyldeoxynojirimycin is a novel inhibitor of glycolipid biosynthesis.
The imino sugar deoxynojirimycin and its alkylated derivatives are inhibitors of the N-linked
oligosaccharide processing enzymes alpha-glucosidase I and II. These compounds are …
oligosaccharide processing enzymes alpha-glucosidase I and II. These compounds are …
Glycosphingolipid synthesis requires FAPP2 transfer of glucosylceramide
G D'Angelo, E Polishchuk, GD Tullio, M Santoro… - Nature, 2007 - nature.com
The molecular machinery responsible for the generation of transport carriers moving from
the Golgi complex to the plasma membrane relies on a tight interplay between proteins and …
the Golgi complex to the plasma membrane relies on a tight interplay between proteins and …
Prevention of Lysosomal Storage in Tay-Sachs Mice Treated with N-Butyldeoxynojirimycin
FM Platt, GR Neises, G Reinkensmeier, MJ Townsend… - Science, 1997 - science.org
The glycosphingolipid (GSL) lysosomal storage diseases result from the inheritance of
defects in the genes encoding the enzymes required for catabolism of GSLs within …
defects in the genes encoding the enzymes required for catabolism of GSLs within …