Results 71 to 80 of about 14,130 (212)
Gaucher’s Disease (the Modern View on the Problem)
Gastroenterologìa, 2015 The article presents a literature review of the most common lysosomal storage diseases — Gaucher’s disease. This pathology is caused by a inherited deficiency in glucocerebrosidase that cleaves cerebrosides.
V.B. Yagmur
doaj +1 more source
Ambroxol effects in glucocerebrosidase and -synuclein transgenic mice [PDF]
, 2016 Objective. Gaucher disease is caused by mutations in the glucocerebrosidase 1 gene that result in deficiency of the lysosomal enzyme glucocerebrosidase.
Bezard, E +3 more
core
No evidence for substrate accumulation in Parkinson brains with GBA mutations [PDF]
, 2015 To establish whether Parkinson's disease (PD) brains previously described to have decreased glucocerebrosidase activity exhibit accumulation of the lysosomal enzyme's substrate, glucosylceramide, or other changes in lipid ...
Gegg, ME +5 more
core +1 more source
Genetic and Pathological Testing Attitudes for Parkinson's Disease in At‐Risk Relatives
Movement Disorders Clinical Practice, EarlyView.Abstract Background Parkinson's disease (PD) is increasingly recognized as a neurodegenerative disorder with a broad clinical spectrum and diverse biomarkers enabling early detection. α‐synuclein seed amplification assays (SAA) and genetic testing now allow identification of PD pathology in asymptomatic individuals.
Tal Weil +5 more
wiley +1 more source
Mechanisms of Glucocerebrosidase Dysfunction in Parkinson’s Disease
Journal of Molecular Biology, 2023 Beta-glucocerebrosidase is a lysosomal hydrolase, encoded by GBA1 that represents the most common risk gene associated with Parkinson's disease (PD) and Lewy Body Dementia. Glucocerebrosidase dysfunction has been also observed in the absence of GBA1 mutations across different genetic and sporadic forms of PD and related disorders, suggesting a broader ...
Diptaman, Chatterjee, Dimitri, Krainc
openaire +2 more sources
Journal of Lipid Research, 2014 Lysosomal integral membrane protein-2 (LIMP2) mediates trafficking of glucocerebrosidase (GBA) to lysosomes. Deficiency of LIMP2 causes action myoclonus-renal failure syndrome (AMRF).
Paulo Gaspar +11 more
doaj +1 more source
The Future of Targeted Gene-Based Treatment Strategies and Biomarkers in Parkinson’s Disease
Biomolecules, 2020 Biomarkers and disease-modifying therapies are both urgent unmet medical needs in the treatment of Parkinson’s disease (PD) and must be developed concurrently because of their interdependent relationship: biomarkers for the early detection of disease (i ...
Alexia Polissidis +3 more
doaj +1 more source
Morbus gaucher: A report of two cases [PDF]
Vojnosanitetski Pregled, 2006 Backround. Clinical features of inherited glucocerebrosidase deficiency were first described by Phillippe Charles Ernest Gaucher, French physician (1854-1918).
Đokić Milomir
doaj +1 more source
Case report: Multidisciplinary collaboration in diagnosis and treatment of child gaucher disease
Frontiers in Pediatrics, 2023 Gaucher disease (GD) is an inherited lysosomal storage disease caused by mutations in the glucocerebrosidase gene. The decrease of glucocerebrosidase activity in lysosomes results in the accumulation of its substrate glucocerebroside in the lysosomes of ...
Jianfang Zhu +3 more
doaj +1 more source
Movement Disorders Clinical Practice, EarlyView.Abstract Background Visuospatial deficits in Parkinson's disease (PD) often precede dementia and complicate daily functioning. Alzheimer's disease (AD) pathology and α‐synuclein aggregation frequently co‐occur in PD, but their combined impact on cognition is unclear.
David Ledingham +8 more
wiley +1 more source