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European Journal of Human Genetics, ISSN 1018-4813, 2014, Volume 22, Issue 5, pp. 594 - 601
Journal Article
Brain, ISSN 0006-8950, 08/2018, Volume 141, Issue 8, pp. 2255 - 2262
Parkinson’s disease has long been considered idiopathic, with most cases having no apparent genetic cause. However, Klein and Mazzulli argue that recent data... 
neurodegeneration | protein trafficking | autophagy | alpha-synuclein | Updates | lysosomal storage disease
Journal Article
Journal of Pediatric Gastroenterology and Nutrition, ISSN 0277-2116, 06/2019, Volume 68, Issue 6, pp. e105 - e105
Journal Article
Neurobiology of disease, ISSN 0969-9961, 4/2018, Volume 112, pp. 85 - 90
Glucocerebrosidase (GCase, deficient in Gaucher disease) enzymatic activity measured in dried blood spots of Parkinson’s Disease (PD) cases is within healthy... 
neurodegeneration | movement disorders | lysosomal storage disease | biomarkers | Parkinson’s disease
Journal Article
Molecular Therapy - Methods & Clinical Development, ISSN 2329-0501, 06/2020, Volume 17, pp. 174 - 187
Patients with mucopolysaccharidosis type IIIA (MPS IIIA) lack the lysosomal enzyme sulfamidase (SGSH), which is responsible for the degradation of heparan... 
mucopolysaccharidosis | gene therapy | lysosomal storage disease | AAV
Journal Article
Brain, ISSN 0006-8950, 01/2018, Volume 141, Issue 1, pp. 99 - 116
There are currently no treatments for mucopolysaccharidosis IIIB. Holley et al. develop a lentiviral-driven stem cell gene therapy in mice that corrects... 
mucopolysaccharidosis | neurodegeneration | stem cells | lysosomal storage disease | microglia
Journal Article
Chinese Journal of Medical Imaging Technology, ISSN 1003-3289, 07/2016, Volume 32, Issue 7, p. 1030
Journal Article
Bone, ISSN 8756-3282, 02/2020, Volume 131, p. 115142
GM1 gangliosidosis is a lysosomal storage disorder caused by mutations in encoding a lysosomal β-galactosidase. This disease is a continuum from the severe... 
GM1 gangliosidosis type 2 | Beta-galactosidase deficiency | Skeletal dysplasia | Lysosomal storage disease
Journal Article
Journal Article
Endocrinology, ISSN 0013-7227, 03/2008, Volume 149, Issue 3, pp. 942 - 949
Organisms store energy for later use during times of nutrient scarcity. Excess energy is stored as triacylglycerol in lipid droplets during lipogenesis. When... 
FAT STORAGE | HORMONE-SENSITIVE LIPASE | STORAGE DISEASE | PAT PROTEINS | INSULIN-RESISTANCE | ENDOCRINOLOGY & METABOLISM | PERILIPIN GENE | ACCUMULATION | PATATIN DOMAIN | ADIPOSE-TISSUE | OBESITY RISK
Journal Article