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Is Parkinson's disease a lysosomal disorder?
(2018)
Common forms of Parkinson’s disease have long been described as idiopathic, with no single penetrant genetic factor capable of influencing disease aetiology. Recent genetic studies indicate a clear association of variants ...
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. ...
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 ...
Detection of metabolic disorders in high-risk patients: a pilot study in Salvador, Bahia
(Associa????o Arquivos de Neuro-Psiquiatria Dr. Oswaldo Lange, 1997)
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 ...