Cargando…

Parkinson’s Disease Associated with GBA Gene Mutations: Molecular Aspects and Potential Treatment Approaches

Parkinson’s disease (PD) is a multifactorial neurodegenerative disease. To date, genome-wide association studies have identified more than 70 loci associated with the risk of PD. Variants in the GBA gene encoding glucocerebrosidase are quite often found in PD patients in all populations across the w...

Descripción completa

Detalles Bibliográficos
Autores principales:	Senkevich, K. A., Kopytova, A. E., Usenko, T. S., Emelyanov, A. K., Pchelina, S. N.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	A.I. Gordeyev 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8327146/ https://www.ncbi.nlm.nih.gov/pubmed/34377557 http://dx.doi.org/10.32607/actanaturae.11031

Ejemplares similares

Comparative Transcriptome Analysis in Monocyte-Derived Macrophages of Asymptomatic GBA Mutation Carriers and Patients with GBA-Associated Parkinson’s Disease
por: Usenko, Tatiana, et al.
Publicado: (2021)

Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson’s Disease
por: Grigor’eva, Elena V., et al.
Publicado: (2023)

Dataset of total, oligomeric alpha-synuclein and hemoglobin levels in plasma in Parkinson׳s disease
por: Emelyanov, A., et al.
Publicado: (2016)

Gene Therapy for Parkinson’s Disease Associated with GBA1 Mutations
por: Abeliovich, Asa, et al.
Publicado: (2021)

Glucocerebrosidase Mutations and Synucleinopathies. Potential Role of Sterylglucosides and Relevance of Studying Both GBA1 and GBA2 Genes
por: Franco, Rafael, et al.
Publicado: (2018)

No evidence for substrate accumulation in Parkinson brains with GBA mutations
por: Gegg, Matthew E., et al.
Publicado: (2015)

Exploring the Genotype–Phenotype Correlation in GBA-Parkinson Disease: Clinical Aspects, Biomarkers, and Potential Modifiers
por: Menozzi, Elisa, et al.
Publicado: (2021)

GBA Variants and Parkinson Disease: Mechanisms and Treatments
por: Smith, Laura, et al.
Publicado: (2022)

Cross-talks among GBA mutations, glucocerebrosidase, and α-synuclein in GBA-associated Parkinson’s disease and their targeted therapeutic approaches: a comprehensive review
por: Behl, Tapan, et al.
Publicado: (2021)

A molecular analysis of the GBA gene in Caucasian South Africans with Parkinson's disease
por: Barkhuizen, Melinda, et al.
Publicado: (2017)

The Consequences of GBA Deficiency in the Autophagy–Lysosome System in Parkinson’s Disease Associated with GBA
por: Pradas, Eddie, et al.
Publicado: (2023)

α-Synuclein accumulation and GBA deficiency due to L444P GBA mutation contributes to MPTP-induced parkinsonism
por: Yun, Seung Pil, et al.
Publicado: (2018)

GBA1 and The Immune System: A Potential Role in Parkinson’s Disease?
por: Al-Azzawi, Zaid A.M., et al.
Publicado: (2022)

Plasma Glucosylsphingosine in GBA1 Mutation Carriers with and without Parkinson's Disease
por: Surface, Matthew, et al.
Publicado: (2021)

Dual-Task Performance in GBA Parkinson's Disease
por: Srulijes, Karin, et al.
Publicado: (2017)

Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models
por: Sanchez-Martinez, Alvaro, et al.
Publicado: (2016)

Visual short-term memory deficits associated with GBA mutation and Parkinson’s disease
por: Zokaei, Nahid, et al.
Publicado: (2014)

Commentary: Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models
por: Fernandes, Hugo J. R., et al.
Publicado: (2016)

Common Variants Coregulate Expression of GBA and Modifier Genes to Delay Parkinson's Disease Onset
por: Schierding, William, et al.
Publicado: (2020)

The molecular mechanism of Gaucher disease caused by compound heterozygous mutations in GBA1 gene
por: Liu, Qi, et al.
Publicado: (2023)

Features of GBA-associated Parkinson’s disease at presentation in the UK Tracking Parkinson’s study
por: Malek, Naveed, et al.
Publicado: (2018)

Brain Microglial Activation Increased in Glucocerebrosidase (GBA) Mutation Carriers without Parkinson's disease
por: Mullin, Stephen, et al.
Publicado: (2020)

Levodopa-Induced Ocular Dyskinesia in an Early-Onset Parkinson Disease Patient With GBA Mutation
por: He, Jia-Ming, et al.
Publicado: (2021)

Should we offer deep brain stimulation to Parkinson’s disease patients with GBA mutations?
por: Artusi, Carlo Alberto, et al.
Publicado: (2023)

Experience in Genetic Counseling for GBA1 Variants in Parkinson's Disease
por: den Heijer, Jonas M., et al.
Publicado: (2020)

Unraveling Autonomic Dysfunction in GBA‐Related Parkinson's Disease
por: Devigili, Grazia, et al.
Publicado: (2023)

Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease
por: Toffoli, Marco, et al.
Publicado: (2021)

Role of Lysosomal Gene Variants in Modulating GBA ‐Associated Parkinson's Disease Risk
por: Straniero, Letizia, et al.
Publicado: (2022)

Sphingolipid changes in Parkinson L444P GBA mutation fibroblasts promote α-synuclein aggregation
por: Galvagnion, Céline, et al.
Publicado: (2022)

GBA1 Gene Mutations in α-Synucleinopathies—Molecular Mechanisms Underlying Pathology and Their Clinical Significance
por: Granek, Zuzanna, et al.
Publicado: (2023)

A Large‐Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands
por: den Heijer, Jonas M., et al.
Publicado: (2020)

GBA, Gaucher Disease, and Parkinson’s Disease: From Genetic to Clinic to New Therapeutic Approaches
por: Riboldi, Giulietta M., et al.
Publicado: (2019)

Lack of Association Between GBA Mutations and Motor Complications in European and American Parkinson’s Disease Cohorts
por: Maple-Grødem, Jodi, et al.
Publicado: (2021)

Elevation of gangliosides in four brain regions from Parkinson’s disease patients with a GBA mutation
por: Blumenreich, Shani, et al.
Publicado: (2022)

Mutational spectrum and clinical features of GBA1 variants in a Chinese cohort with Parkinson’s disease
por: Zhou, Yangjie, et al.
Publicado: (2023)

Analysis of glucocerebrosidase (GBA) gene mutations in Iranian patients with Gaucher disease
por: MOZAFARI, Hadi, et al.
Publicado: (2021)

Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson’s Disease
por: Shulskaya, Marina V., et al.
Publicado: (2018)

GBA Mutations Influence the Release and Pathological Effects of Small Extracellular Vesicles from Fibroblasts of Patients with Parkinson’s Disease
por: Cerri, Silvia, et al.
Publicado: (2021)

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene
por: Toffoli, Marco, et al.
Publicado: (2022)

Effect of GBA Mutations on Phenotype of Parkinson's Disease: A Study on Chinese Population and a Meta-Analysis
por: Zhang, Yuan, et al.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_njakuaasd60133ss00nm4ua4ra