Results 31 to 40 of about 11,713 (255)
Movement Disorders, 2022 Although men and women with the LRRK2 G2019S variant appear to be equally likely to have Parkinson's disease (PD), the sex‐distribution among glucocerebrosidase (GBA) variant carriers with PD, including limited to specific variant severities of GBA, is ...
Robert Ortega +11 more
semanticscholar +1 more source
Glucocerebrosidase deficits in sporadic Parkinson disease [PDF]
Autophagy, 2014 Parkinson disease (PD) is a progressive neurodegenerative movement disorder characterized pathologically by abnormal SNCA/α-synuclein protein inclusions in neurons. Impaired lysosomal autophagic degradation of cellular proteins is implicated in PD pathogenesis and progression.
Karen E. Murphy, Glenda M. Halliday
openalex +4 more sources
Glucocerebrosidase Mutations in Gaucher Disease [PDF]
Molecular Medicine, 1994 Thirty-six mutations that cause Gaucher disease, the most common glycolipid storage disorder, are known. Although both alleles of most patients with the disease contain one of these mutations, in a few patients one or both disease-producing alleles have remained unidentified.
E, Beutler, A, Demina, T, Gelbart
openaire +2 more sources
British Journal of Dermatology, 2022 Atopic dermatitis (AD) is characterized by immune dysregulations and an impaired skin barrier, including abnormalities in lipid organization. In the stratum corneum (SC), β‐glucocerebrosidase (GBA) mediates transformation of glucosylceramide (GlcCER ...
S. Kežić +10 more
semanticscholar +1 more source
Parkinsonism Associated with Glucocerebrosidase Mutation [PDF]
Journal of Clinical Neurology, 2011 Gaucher's disease is an autosomal recessive, lysosomal storage disease caused by mutations of the β-glucocerebrosidase gene (GBA). There is increasing evidence that GBA mutations are a genetic risk factor for the development of Parkinson's disease (PD).
Sunwoo, Mun-Kyung +3 more
openaire +3 more sources
Neurobiology of Disease, 2019 Synucleinopathies including Parkinson's disease (PD) and Dementia with Lewy bodies (DLB) are characterized by the accumulation of abnormal α-synuclein in intraneuronal inclusions, named Lewy bodies.
Anna Lisa Gündner +8 more
doaj +1 more source
ChemMedChem, 2022 Gaucher disease is a genetic disorder and the most common lysosomal disease caused by the deficiency of enzyme β‐glucocerebrosidase (GCase).
K. Chauhan +6 more
semanticscholar +1 more source
Gaucher disease: achievements and prospects
Терапевтический архив, 2021 Gaucher disease (GD) is the most common lysosomal storage disorder, resulting from a deficiency in the activity of a lysosomal enzyme glucocerebrosidase, which is involved in the catabolism of sphingolipids.
Rodion V. Ponomarev, Elena A. Lukina
doaj +1 more source
Isofagomine Induced Stabilization of Glucocerebrosidase [PDF]
ChemBioChem, 2008 AbstractStructurally destabilizing mutations in acid β‐glucosidase (GCase) can result in Gaucher disease (GD). The iminosugar isofagomine (IFG), a competitive inhibitor and a potential pharmacological chaperone of GCase, is currently undergoing clinical evaluation for the treatment of GD.
Gregory J, Kornhaber +6 more
openaire +2 more sources
Acta Neuropathologica Communications, 2019 Loss-of-function mutations in progranulin (GRN) are a major autosomal dominant cause of frontotemporal dementia. Most pathogenic GRN mutations result in progranulin haploinsufficiency, which is thought to cause frontotemporal dementia in GRN mutation ...
Andrew E. Arrant +12 more
doaj +1 more source