Results 1 to 10 of about 2,680 (134)

Establishment and Phenotypic Analysis of the Novel Gaucher Disease Mouse Model With the Partially Humanized Gba1 Gene and F213I Mutation [PDF]

Frontiers in Genetics, 2022
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by mutations in the GBA1 gene, which produces the glucocerebrosidase (GCase) protein. There are more than 500 mutations reported in GBA1, among which L444P (p.Leu444Pro) and
Jia-ni Guo, Jia-ni Guo, Ming Guan, Nan Jiang, Na Li, Ya-jun Li, Jin Zhang, Duan Ma, Duan Ma   +8 more
doaj   +2 more sources

The dual impact of GBA1 in disease: from germline mutations in neurological disorders to alterations in cancer [PDF]

Cell Death Discovery
The GBA1 gene encodes the enzyme glucocerebrosidase, which is responsible for lysosomal degradation of the glycosphingolipid glucosylceramide. Biallelic mutations in GBA1 are causative for Gaucher disease, whereas either monoallelic or biallelic ...
Valentina Fantini, Giulia Di Rauso, Valentina Fioravanti, Alessia Ciarrocchi, Francesco Cavallieri, Valentina Sancisi   +5 more
doaj   +2 more sources

Multi-omics insights into GBA1-associated Parkinson’s disease: interplay of genomics, transcriptomics, proteomics, and lipidomics [PDF]

Molecular Neurodegeneration
Parkinson’s disease (PD) is the second most prevalent neurodegenerative disorder worldwide. The pathogenesis of PD is driven by multifactorial mechanisms involving a complex interplay among environmental exposures, genetic susceptibility, and aging ...
Yang Ni, Huaibin Cai, Yaping Shao, Weidong Le   +3 more
doaj   +2 more sources

Severe GBA1 variants drive the GBA1-PD clinical phenotype: implications for counselling and clinical trials [PDF]

npj Parkinson's Disease
Variants in the GBA1 gene are the commonest genetic risk factor for Parkinson disease (PD). Genotype-phenotype correlations exist but with conflicting data.
Elisa Menozzi, Sara Lucas Del Pozo, Jane Macnaughtan, Roxana Mezabrovschi, Sofia Koletsi, Pierfrancesco Mitrotti, Luca Gallo, Rosaria Calabrese, Marco Toffoli, Nadine Loefflad, Franco Valzania, Francesco Cavallieri, Valentina Fioravanti, Selen Yalkic, Naomi Limbachiya, Fabio Blandini, Micol Avenali, Anthony HV Schapira   +17 more
doaj   +2 more sources

Targeting lysosomal pH restores mitochondrial quality control in GBA1-mutant Parkinson’s disease [PDF]

Translational Neurodegeneration
Background Heterozygous mutations in the glucocerebrosidase gene (GBA1), which encodes the lysosomal enzyme β-glucocerebrosidase (GCase), are a genetic risk factor for Parkinson’s disease (PD).
Preethi Sheshadri, Maria Alicia Costa-Besada, Alessia Fisher, Szilvia Kiraly, Kritarth Singh, Ioanna Kourouzidou, Thomas S. Blacker, Jialiu Zeng, Orian S. Shirihai, Mark W. Grinstaff, Michael R. Duchen   +10 more
doaj   +2 more sources

The Effect of p.G2019S Mutation in the LRRK2 Gene on the Activity of Lysosomal Hydrolases and the Clinical Features of Parkinson's Disease Associated with p.N370S Mutation in the GBA1 Gene

Journal of Integrative Neuroscience
Background: Mutations in the glucocerebrosidase (GBA1) and leucine-rich repeat kinase 2 (LRRK2) genes, encoding lysosomal enzyme glucocerebrosidase (GCase) and leucine-rich repeat kinase 2 (LRRK2), respectively, are the most common related to Parkinson’s
Ekaterina Zakharova
exaly   +3 more sources

Glucocerebrosidase Mutations and Synucleinopathies. Potential Role of Sterylglucosides and Relevance of Studying Both GBA1 and GBA2 Genes

Frontiers in Neuroanatomy, 2018
Gaucher’s disease (GD) is the most prevalent lysosomal storage disorder. GD is caused by homozygous mutations of the GBA1 gene, which codes for beta-glucocerebrosidase (GCase).
Juan A Sánchez-Arias, JOSÉ Lanciego, Rafael Franco   +2 more
exaly   +3 more sources

Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor [PDF]

Neurological Sciences
Rezzak Yilmaz, Fatma Tuba Eminoglu, Merve Koc Yekedüz   +2 more
exaly   +2 more sources

GBA1 Gene-Associated Transcriptomic Signatures Reveal Risk Genes in Parkinson’s Disease [PDF]

Biomedicines
Ronan Mt Fleming, Xi Luo
exaly   +2 more sources

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