Results 11 to 20 of about 2,830 (159)

Gene Therapy for Parkinson’s Disease Associated with Mutations

Journal of Parkinson’s Disease, 2021
Human genetic studies as well as studies in animal models indicate that lysosomal dysfunction plays a key role in the pathogenesis of Parkinson’s disease.
Asa Abeliovich, Franz Hefti, Jeffrey Sevigny   +2 more
doaj   +4 more sources

Blood Glucocerebrosidase Activity and α-Synuclein Levels in Patients with GBA1-Associated Parkinson's Disease and Asymptomatic GBA1 Mutation Carriers [PDF]

Анналы клинической и экспериментальной неврологии
Introduction. Mutations in a GBA1 gene, which encodes a lysosomal enzyme called glucocerebrosidase (GCase), are the most common genetic risk factor for Parkinson's disease (PD). The pathogenesis of PD results from the death of dopaminergic neurons in the
Anton K. Emelyanov, Tatiana S. Usenko, Alena E. Kopytova, Irina V. Miliukhina, Alla A. Timofeeva, Anastasia I. Bezrukova, Darya G. Kulabukhova, Galina V. Baydakova, Mikhail A. Nikolaev, Anna O. Lavrinova, Anastasia V. Kudrevatykh, Alexander S. Zhuravlev, Ekaterina Yu. Zakharova, Sofya N. Pchelina   +13 more
doaj   +2 more sources

and The Immune System: A Potential Role in Parkinson’s Disease?

Journal of Parkinson’s Disease, 2022
It is clear that the immune system and inflammation have a role in Parkinson’s disease (PD), including sporadic PD and some genetic forms such as LRRK2 -associated PD.
Zaid A.M. Al-Azzawi, Saman Arfaie, Ziv Gan-Or   +2 more
doaj   +3 more sources

Clinical, mechanistic, biomarker, and therapeutic advances in GBA1-associated Parkinson’s disease

Translational Neurodegeneration
Parkinson’s disease (PD) is the second most common neurodegenerative disease. The development of PD is closely linked to genetic and environmental factors, with GBA1 variants being the most common genetic risk.
Xuxiang Zhang, Heng Wu, Beisha Tang, Jifeng Guo   +3 more
doaj   +3 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

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

Is Gauchian genotyping ofGBA1variants reliable?

Communications Biology, 2023
AbstractBiallelic mutations inGBA1result in Gaucher disease (GD), the inherited deficiency of glucocerebrosidase. Variants inGBA1are also a common genetic risk factor for Parkinson disease (PD). Currently, some PD centers screen for mutantGBA1alleles to stratify patients who may ultimately benefit fromGBA1-targeted therapeutics.
Nahid Tayebi, Jens Lichtenberg, Ellen Hertz, Ellen Sidransky   +3 more
openaire   +4 more sources

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

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

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