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Neuronopathic Gaucher disease: Beyond lysosomal dysfunction
(2022)
Gaucher disease (GD) is an inherited disorder caused by recessive mutations in the GBA1 gene that encodes the lysosomal enzyme beta-glucocerebrosidase (beta-GC). beta-GC hydrolyzes glucosylceramide (GluCer) into glucose ...
Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: Opportunities for shared therapeutic interventions
(2020)
Lysosomal storage disorders (LSDs) are diseases characterized by the accumulation of macromolecules in the late endocytic system and are caused by inherited defects in genes that encode mainly lysosomal enzymes or transmembrane ...
Identification of modifier genes/networks of lysosomal biology
(Universidad del Desarrollo. Facultad de Medicina, 2023)
Lysosomal storage diseases (LSDs) are a heterogeneous group of ~70 rare inherited metabolic diseases caused by loss-of-function variants in genes encoding for lysosomal enzymes, their activators, or transport proteins. ...
Lysosomal and mitochondrial liaisons in Niemann-Pick Disease
(2017)
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 ...
Finding pathogenic commonalities between Niemann-Pick type C and other lysosomal storage disorders: opportunities for shared therapeutic interventions
(2020)
Lysosomal storage disorders (LSDs) are diseases characterized by the accumulation of macromolecules in the late endocytic system and are caused by inherited defects in genes that encode mainly lysosomal enzymes or transmembrane ...
c-Abl activates RIPK3 signaling in Gaucher disease
(2021)
Gaucher disease (GD) is caused by homozygous mutations in the GBA1 gene, which encodes the lysosomal β-glucosidase (GBA) enzyme. GD affects several organs and tissues, including the brain in certain variants of the disease. ...
Therapy of lysosomal storage diseases: Update and perspectives [Terapia de las enfermedades por depósito lisosomal: Actualidad y perspectivas]
(2011)
Lysosomal storage diseases (LSD) are caused by monogenic mutations in genes coding for multiple aberrant proteins involved in the catabolism of complex lipids, glycosaminoglycans, oligosaccharides, or nucleic acids. The ...
Therapy of lysosomal storage diseases: Update and perspectives [Terapia de las enfermedades por depósito lisosomal: Actualidad y perspectivas]
(2011)
Lysosomal storage diseases (LSD) are caused by monogenic mutations in genes coding for multiple aberrant proteins involved in the catabolism of complex lipids, glycosaminoglycans, oligosaccharides, or nucleic acids. The ...