Results 21 to 30 of about 7,167 (179)
Frontiers in Neurology, 2022 Variants in the GBA1 and LRRK2 genes are the most common genetic risk factors associated with Parkinson disease (PD). Both genes are associated with lysosomal and autophagic pathways, with the GBA1 gene encoding for the lysosomal enzyme ...
Laura J. Smith +7 more
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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
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Cerebrospinal fluid β-glucocerebrosidase activity is reduced in Dementia with Lewy Bodies
Neurobiology of Disease, 2009 The autophagy–lysosomal degradation pathway plays a role in the onset and progression of neurodegenerative diseases. Clinical and genetic studies indicate that mutations of β-glucocerebrosidase represent genetic risk factors for synucleinopathies ...
L. Parnetti +14 more
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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
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The Spectrum of Neurological Manifestations Associated with Gaucher Disease
Diseases, 2017 Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral ...
Tamanna Roshan Lal, Ellen Sidransky
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Type 1 and Type 3 Gaucher Disease in Two Siblings in A Family: 2 Unusual Case Reports [PDF]
Journal of Clinical and Diagnostic Research, 2015 Gaucher disease (GD) is an autosomal recessive disorder, characterized by lack of acid β-glucosidase (glucocerebrosidase) enzyme resulting in accumulation of glucosylceramide in different organs. It is common in Ashkenazi Jews but rare in India.
DOLANCHAMPA MODAK +3 more
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Glucocerebrosidase Defects as a Major Risk Factor for Parkinson’s Disease
Frontiers in Aging Neuroscience, 2020 Heterozygous mutations of the GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), occur in a considerable percentage of all patients with sporadic Parkinson’s disease (PD), varying between 8% and 12% across the world.
Micol Avenali +4 more
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A novel mutation deep within intron 7 of the GBA gene causes Gaucher disease
Molecular Genetics & Genomic Medicine, 2020 Background Mutations in the GBA gene that encodes the lysosomal enzyme acid β‐glucocerebrosidase cause Gaucher disease (GD), the most common lysosomal storage disorder. Most of the mutations are missense/nonsense, however, a few splicing mutations within
Anna Malekkou +8 more
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Frontiers in Neurology, 2022 Gaucher Disease (GD) 2 is a rare inherited lysosomal disorder. Early-onset and rapid progression of neurovisceral symptoms lead to fatal outcome in early childhood. Treatment is symptomatic, a curative therapy is currently not available. This prospective
Charlotte Aries +8 more
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Glucocerebrosidase Mutations in Parkinson Disease
Journal of Parkinson's Disease, 2017 Following the discovery of a higher than expected incidence of Parkinson Disease (PD) in Gaucher disease, a lysosomal storage disorder, mutations in the glucocerebrocidase (GBA) gene, which encodes a lysosomal enzyme involved in sphingolipid degradation were explored in the context of idiopathic PD.
Ruth-Mary deSouza +3 more
openaire +4 more sources