Results 21 to 30 of about 9,202 (225)

Mitochondria and quality control defects in a mouse model of Gaucher Disease-links to Parkinson's Disease [PDF]

, 2013
Mutations in the glucocerebrosidase (gba) gene cause Gaucher disease (GD), the most common lysosomal storage disorder, and increase susceptibility to Parkinson's disease (PD).
Duchen, Michael R., Gegg, ME, Osellame, LD, Gegg, Matthew E., Osellame, Laura D., Richard-Londt, A, Hargreaves, Iain P., Brandner, Sebastian, Brandner, S, Richard-Londt, Angela, Waddington, Simon N., Hargreaves, IP, Waddington, SN, Schapira, AHV, Rahim, AA, Rahim, Ahad A., Duchen, MR, Schapira, AH, Schapira, Anthony H.V.   +18 more
core   +1 more source

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

Path mediation analysis reveals GBA impacts Lewy body disease status by increasing α-synuclein levels

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, Gonzalo Duran-Pacheco, Silke Zimmermann, Iris Ruf, Tim Moors, Karlheinz Baumann, Ravi Jagasia, Wilma D.J. van de Berg, Thomas Kremer   +8 more
doaj   +1 more source

Genetic variations in GBA1 and LRRK2 genes: Biochemical and clinical consequences in Parkinson disease

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, Laura J. Smith, Chiao-Yin Lee, Chiao-Yin Lee, Elisa Menozzi, Elisa Menozzi, Anthony H. V. Schapira, Anthony H. V. Schapira   +7 more
doaj   +1 more source

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, C. Balducci, L. Pierguidi, C. De Carlo, M. Peducci, C. D'Amore, C. Padiglioni, S. Mastrocola, E. Persichetti, S. Paciotti, G. Bellomo, N. Tambasco, A. Rossi, T. Beccari, P. Calabresi   +14 more
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 ...
Asselta, Rosanna, Rimoldi, Valeria, Siri, Chiara, Cilia, Roberto, Guella, Ilaria, Tesei, Silvana, Soldà, Giulia, Pezzoli, Gianni, Duga, Stefano, Goldwurm, Stefano   +9 more
openaire   +2 more sources

Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine

, 2019
Glucocerebrosidase is a lysosomal enzyme. The characterization of a direct link between mutations in the gene coding for glucocerebrosidase (GBA1) with the development of Parkinson's disease and dementia with Lewy bodies has heightened interest in this ...
Cilia R., Pezzoli G., Cerri S., Blandini F., Mullin S., Schapira A. H. V., Lanciego J. L.   +6 more
core   +2 more sources

Ambroxol effects in glucocerebrosidase and α-synuclein transgenic mice.

, 2016
International audienceGaucher disease is caused by mutations in the glucocerebrosidase 1 gene that result in deficiency of the lysosomal enzyme glucocerebrosidase.
Migdalska-Richards, Anna, Schapira, Anthony H V, Daly, Liam, Bezard, Erwan   +3 more
core   +2 more sources

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
doaj   +1 more source

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, SASMIT ROY, UTTAM NATH, S.K.GUHA   +3 more
doaj   +1 more source