Results 11 to 20 of about 3,074 (177)

GBA1 Thr408Met mutation in a patient with Parkinson’s disease

Zhongguo Linchuang Yixue
GBA1 gene mutation is an important genetic risk factor for Parkinson’s disease (PD). This paper reports a case of a 43-year-old male PD patient carrying a rare heterozygous Thr408Met mutation in the GBA1 gene identified through whole-exome sequencing ...
Yi ZHAO, Junwen LI, Chunlian JU, Weibin QIU, Bo ZUO, Zhigang YANG, Yansheng LI   +6 more
doaj   +2 more sources

Accurate long-read sequencing identified GBA1 as major risk factor in the Luxembourgish Parkinson’s study

npj Parkinson's Disease, 2023
Heterozygous variants in the glucocerebrosidase GBA1 gene are an increasingly recognized risk factor for Parkinson’s disease (PD). Due to the GBAP1 pseudogene, which shares 96% sequence homology with the GBA1 coding region, accurate variant calling by ...
Sinthuja Pachchek, Zied Landoulsi, Lukas Pavelka, Claudia Schulte, Elena Buena-Atienza, Caspar Gross, Ann-Kathrin Hauser, Dheeraj Reddy Bobbili, Nicolas Casadei, Patrick May, Rejko Krüger, on behalf of the NCER-PD Consortium   +11 more
doaj   +1 more source

Is Gauchian genotyping of GBA1 variants reliable?

Communications Biology, 2023
Abstract Biallelic mutations in GBA1 result in Gaucher disease (GD), the inherited deficiency of glucocerebrosidase. Variants in GBA1 are also a common genetic risk factor for Parkinson disease (PD). Currently, some PD centers screen for mutant
Nahid Tayebi, Jens Lichtenberg, Ellen Hertz, Ellen Sidransky   +3 more
openaire   +4 more sources

GBA1 variants in Brazilian Gaucher disease patients

Molecular Genetics and Metabolism Reports, 2023
Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by pathogenic variants in GBA1 which result in the deficient activity of glucocerebrosidase (GCase). There are few data on the genetic characterization of Brazilian GD patients.
Suelen Porto Basgalupp, Vivian Altmann, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz, Marina Siebert, Renata Cravo, Erlane M. Ribeiro, Augusto C. dos Santos, Louise L. de Camargo Pinto, Carolina C. Militão, Luiz Fernando Andrade   +10 more
openaire   +3 more sources

Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model.

PLoS ONE, 2021
Multiple mutations have been described in the human GBA1 gene, which encodes the lysosomal enzyme beta-glucocerebrosidase (GCase) that degrades glucosylceramide and is pivotal in glycosphingolipid substrate metabolism.
Nicole K Polinski, Terina N Martinez, Alexander Gorodinsky, Ralph Gareus, Michael Sasner, Mark Herberth, Robert Switzer, Syed O Ahmad, Mali Cosden, Monika Kandebo, Robert E Drolet, Peter D Buckett, Weisong Shan, Yi Chen, Lee J Pellegrino, Gregory D Ellsworth, Leo B Dungan, Warren D Hirst, Sean W Clark, Kuldip D Dave   +19 more
doaj   +1 more source

Freezing of gait in Parkinson’s disease with glucocerebrosidase mutations: prevalence, clinical correlates and effect on quality of life

Frontiers in Neuroscience, 2023
ObjectivesMutations in glucocerebrosidase (GBA1) can change the clinical phenotype of Parkinson’s disease (PD). This study aimed to explore the clinical characteristics of freezing of gait (FOG) in PD patients with GBA1 mutations.MethodsA whole-exome ...
Ruwei Ou, Chunyu Li, Qianqian Wei, Kuncheng Liu, Junyu Lin, Tianmi Yang, Yi Xiao, Qirui Jiang, Yangfan Cheng, Yanbing Hou, Lingyu Zhang, Wei Song, Xueping Chen, Xiaohui Lai, Huifang Shang   +14 more
doaj   +1 more source

Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson’s disease

npj Parkinson's Disease, 2023
GBA1 variants are important risk factors for Parkinson’s disease (PD). Most studies assessing GBA1-related PD risk have been performed in European-derived populations.
Yangjie Zhou, Yige Wang, Juan Wan, Yuwen Zhao, Hongxu Pan, Qian Zeng, Xun Zhou, Runcheng He, Xiaoxia Zhou, Yaqin Xiang, Zhou Zhou, Bin Chen, Qiying Sun, Qian Xu, Jieqiong Tan, Lu Shen, Hong Jiang, Xinxiang Yan, Jinchen Li, Jifeng Guo, Beisha Tang, Heng Wu, Zhenhua Liu   +22 more
doaj   +1 more source

Role of μ-glucosidase 2 in aberrant glycosphingolipid metabolism: model of glucocerebrosidase deficiency in zebrafish

Journal of Lipid Research, 2019
μ-glucosidases [GBA1 (glucocerebrosidase) and GBA2] are ubiquitous essential enzymes. Lysosomal GBA1 and cytosol-facing GBA2 degrade glucosylceramide (GlcCer); GBA1 deficiency causes Gaucher disease, a lysosomal storage disorder characterized by ...
Lindsey T. Lelieveld, Mina Mirzaian, Chi-Lin Kuo, Marta Artola, Maria J. Ferraz, Remco E.A. Peter, Hisako Akiyama, Peter Greimel, Richard J.B.H.N. van den Berg, Herman S. Overkleeft, Rolf G. Boot, Annemarie H. Meijer, Johannes M.F.G. Aerts   +12 more
doaj   +1 more source

D409H GBA1 mutation accelerates the progression of pathology in A53T α-synuclein transgenic mouse model

Acta Neuropathologica Communications, 2018
Heterozygous mutations in glucocerebrosidase 1 (GBA1) are a major genetic risk factor for Parkinson’s disease and Dementia with Lewy bodies. Mutations in GBA1 leads to GBA1 enzyme deficiency, and GBA1-associated parkinsonism has an earlier age of onset ...
Donghoon Kim, Heehong Hwang, Seulah Choi, Sang Ho Kwon, Suhyun Lee, Jae Hong Park, SangMin Kim, Han Seok Ko   +7 more
doaj   +1 more source

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

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   +1 more source