Results 41 to 50 of about 14,130 (212)
The Emerging Role of the Lysosome in Parkinson’s Disease
Cells, 2020 Lysosomal function has a central role in maintaining neuronal homeostasis, and, accordingly, lysosomal dysfunction has been linked to neurodegeneration and particularly to Parkinson’s disease (PD).
Alba Navarro-Romero +2 more
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Neurocognitive profile of adults with the Norrbottnian type of Gaucher disease
JIMD Reports, 2022 Introduction Gaucher disease (GD) is a monogenic, lysosomal storage disorder, classified according to the presence of acute (type 2), chronic (type 3), or no (type 1) neurological manifestations.
Panagiota Tsitsi +4 more
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LRRK2 and Lipid Pathways: Implications for Parkinson’s Disease
Biomolecules, 2022 Genetic alterations in the LRRK2 gene, encoding leucine-rich repeat kinase 2, are a common risk factor for Parkinson’s disease. How LRRK2 alterations lead to cell pathology is an area of ongoing investigation, however, multiple lines of evidence suggest ...
Jasmin Galper +2 more
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Parkinson's disease: autoimmunity and neuroinflammation [PDF]
, 2016 Parkinson's disease is a neurodegenerative disease that causes the death of dopaminergic neurons in the substantia nigra. The resulting dopamine deficiency in the basal ganglia leads to a movement disorder that is characterized by classical parkinsonian ...
CINIGLIO APPIANI, MARIO +9 more
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Glucocerebrosidase is shaking up the synucleinopathies [PDF]
Brain, 2014 The lysosomal enzyme glucocerebrosidase, encoded by the glucocerebrosidase gene, is involved in the breakdown of glucocerebroside into glucose and ceramide. Lysosomal build-up of the substrate glucocerebroside occurs in cells of the reticulo-endothelial system in patients with Gaucher disease, a rare lysosomal storage disorder caused by the recessively
Marina, Siebert +2 more
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Frontiers in Neurology, 2021 Variants in the glucocerebrosidase (GBA) gene are the most common genetic risk factor for Parkinson disease (PD). These include pathogenic variants causing Gaucher disease (GD) (divided into “severe,” “mild,” or “complex”—resulting from recombinant ...
Elisa Menozzi, Anthony H. V. Schapira
doaj +1 more source
Glucocerebrosidase mutations in primary parkinsonism
Parkinsonism & Related Disorders, 2014 Mutations in the lysosomal glucocerebrosidase (GBA) gene increase the risk of Parkinson's Disease (PD). We determined the frequency and relative risk of major GBA mutations in a large series of Italian patients with primary parkinsonism.We studied 2766 unrelated consecutive patients with clinical diagnosis of primary degenerative parkinsonism ...
R. Asselta +9 more
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Non-iminosugar glucocerebrosidase small molecule chaperones [PDF]
Med. Chem. Commun., 2012 Small molecule chaperones are a promising therapeutic approach for the Lysosomal Storage Disorders (LSDs). Here, we report the discovery of a new series of non-iminosugar glucocerebrosidase inhibitors with chaperone capacity, and describe their structure activity relationship (SAR), selectivity, cell activity phamacokinetics.
Juan Jose, Marugan +12 more
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Glucocerebrosidase mutations in subjects with parkinsonism [PDF]
Molecular Genetics and Metabolism, 2004 Recent studies showing an association between glucocerebrosidase deficiency and parkinsonism in Gaucher disease prompted an examination of the glucocerebrosidase gene sequence (GBA) and enzyme activity in brain samples from 57 subjects carrying the diagnosis of Parkinson disease.
Alicia, Lwin +4 more
openaire +2 more sources
Journal of Lipid Research, 2016 The membrane lipid glucosylceramide (GlcCer) is continuously formed and degraded. Cells express two GlcCer-degrading β-glucosidases, glucocerebrosidase (GBA) and GBA2, located in and outside the lysosome, respectively.
AndréR.A. Marques +26 more
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