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Page 1
GBA Variants and Parkinson Disease: Mechanisms and Treatments.
Smith L, Schapira AHV. Smith L, et al. Cells. 2022 Apr 8;11(8):1261. doi: 10.3390/cells11081261. Cells. 2022. PMID: 35455941 Free PMC article. Review.
The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which maintains glycosphingolipid homeostasis. Approximately 5-15% of PD patients have mutations in the GBA gene, making it numerically the most important genetic risk factor for …
The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which maintains glycosphingolipid homeostasis. Appro …
Gaucher disease: mutation and polymorphism spectrum in the glucocerebrosidase gene (GBA).
Hruska KS, LaMarca ME, Scott CR, Sidransky E. Hruska KS, et al. Hum Mutat. 2008 May;29(5):567-83. doi: 10.1002/humu.20676. Hum Mutat. 2008. PMID: 18338393 Review.
Almost 300 unique mutations have been reported in the glucocerebrosidase gene (GBA), with a distribution that spans the gene. These include 203 missense mutations, 18 nonsense mutations, 36 small insertions or deletions that lead to either frameshifts or in-f …
Almost 300 unique mutations have been reported in the glucocerebrosidase gene (GBA), with a distribution that spans the gen …
GBA, Gaucher Disease, and Parkinson's Disease: From Genetic to Clinic to New Therapeutic Approaches.
Riboldi GM, Di Fonzo AB. Riboldi GM, et al. Cells. 2019 Apr 19;8(4):364. doi: 10.3390/cells8040364. Cells. 2019. PMID: 31010158 Free PMC article. Review.
In recent years, the discovery of the association between mutations of the GBA gene (encoding for the lysosomal enzyme glucocerebrosidase) and PD facilitated a better understating of this disorder. ...With the present review we aim to describe the genetic, clinical, …
In recent years, the discovery of the association between mutations of the GBA gene (encoding for the lysosomal enzyme glucoce …
Effect of GBA gene variants on clinical characteristics of dementia with Lewy bodies: a review and meta-analyses.
Liu L, Li J, Quan W, Qin Y, Zhang Q, Pei X, Su H, Xu J, Chen J. Liu L, et al. Neurol Sci. 2022 Jun;43(6):3541-3550. doi: 10.1007/s10072-022-06031-w. Epub 2022 Mar 24. Neurol Sci. 2022. PMID: 35332438 Review.
OBJECTIVES: Glucocerebrosidase (GBA) gene may be a risk factor for dementia with Lewy bodies (DLB). ...The odds ratios and 95% confidence interval were calculated to determine the association between GBA and DLB and between GBA and the clinical charact …
OBJECTIVES: Glucocerebrosidase (GBA) gene may be a risk factor for dementia with Lewy bodies (DLB). ...The odds ratios and 95% …
The link between the GBA gene and parkinsonism.
Sidransky E, Lopez G. Sidransky E, et al. Lancet Neurol. 2012 Nov;11(11):986-98. doi: 10.1016/S1474-4422(12)70190-4. Lancet Neurol. 2012. PMID: 23079555 Free PMC article. Review.
Mutations in the glucocerebrosidase (GBA) gene, which encodes the lysosomal enzyme that is deficient in Gaucher's disease, are important and common risk factors for Parkinson's disease and related disorders. ...Subsequently, findings from large studies showed that p …
Mutations in the glucocerebrosidase (GBA) gene, which encodes the lysosomal enzyme that is deficient in Gaucher's disease, are …
Role of the Gut-Brain Axis in the Shared Genetic Etiology Between Gastrointestinal Tract Diseases and Psychiatric Disorders: A Genome-Wide Pleiotropic Analysis.
Gong W, Guo P, Li Y, Liu L, Yan R, Liu S, Wang S, Xue F, Zhou X, Yuan Z. Gong W, et al. JAMA Psychiatry. 2023 Apr 1;80(4):360-370. doi: 10.1001/jamapsychiatry.2022.4974. JAMA Psychiatry. 2023. PMID: 36753304 Free PMC article.
IMPORTANCE: Comorbidities and genetic correlations between gastrointestinal tract diseases and psychiatric disorders have been widely reported, with the gut-brain axis (GBA) hypothesized as a potential biological basis. However, the degree to which the shared genetic deter …
IMPORTANCE: Comorbidities and genetic correlations between gastrointestinal tract diseases and psychiatric disorders have been widely report …
Role of Lysosomal Gene Variants in Modulating GBA-Associated Parkinson's Disease Risk.
Straniero L, Rimoldi V, Monfrini E, Bonvegna S, Melistaccio G, Lake J, Soldà G, Aureli M, Shankaracharya, Keagle P, Foroud T, Landers JE, Blauwendraat C, Zecchinelli A, Cilia R, Di Fonzo A, Pezzoli G, Duga S, Asselta R. Straniero L, et al. Mov Disord. 2022 Jun;37(6):1202-1210. doi: 10.1002/mds.28987. Epub 2022 Mar 9. Mov Disord. 2022. PMID: 35262230 Free PMC article.
BACKGROUND: To date, variants in the GBA gene represent the most frequent large-effect genetic factor associated with Parkinson's disease (PD). ...OBJECTIVES: Therefore, we evaluated the contribution of rare variants in genes responsible for lysosomal storage …
BACKGROUND: To date, variants in the GBA gene represent the most frequent large-effect genetic factor associated with Parkinso …
Redefining GBA gene structure unveils the ability of Cap-independent, IRES-dependent gene regulation.
Miyoshi K, Hagita H, Horiguchi T, Tanimura A, Noma T. Miyoshi K, et al. Commun Biol. 2022 Jul 13;5(1):639. doi: 10.1038/s42003-022-03577-5. Commun Biol. 2022. PMID: 35831491 Free PMC article.
First, alternative uses of the two GBA gene promoters were identified in fibroblasts and HL60-derived macrophages. ...Nevertheless, these findings clearly demonstrate novel cell-type-specific GBA gene expression regulatory mechanisms, providing new ins …
First, alternative uses of the two GBA gene promoters were identified in fibroblasts and HL60-derived macrophages. ...Neverthe …
Parkinson's disease.
Lees AJ, Hardy J, Revesz T. Lees AJ, et al. Lancet. 2009 Jun 13;373(9680):2055-66. doi: 10.1016/S0140-6736(09)60492-X. Lancet. 2009. PMID: 19524782 Review.
It is characterised by the presence of severe pars-compacta nigral-cell loss, and accumulation of aggregated alpha-synuclein in specific brain stem, spinal cord, and cortical regions. The main known risk factor is age. Susceptibility genes including alpha-synuclein, leucin …
It is characterised by the presence of severe pars-compacta nigral-cell loss, and accumulation of aggregated alpha-synuclein in specific bra …
Glucocerebrosidase (GBA) gene variants in a multi-ethnic Asian cohort with Parkinson's disease: mutational spectrum and clinical features.
Lim JL, Lohmann K, Tan AH, Tay YW, Ibrahim KA, Abdul Aziz Z, Mawardi AS, Puvanarajah SD, Lim TT, Looi I, Ooi JCE, Chia YK, Muthusamy KA, Bauer P, Rolfs A, Klein C, Ahmad-Annuar A, Lim SY. Lim JL, et al. J Neural Transm (Vienna). 2022 Jan;129(1):37-48. doi: 10.1007/s00702-021-02421-0. Epub 2021 Nov 15. J Neural Transm (Vienna). 2022. PMID: 34779914
Patients (n = 496) were recruited from seven centres, primarily of Chinese (45%), Malay (37%), and Indian (13%) ethnicities. All GBA coding exons were screened using a next-generation sequencing-based PD gene panel and verified with Sanger sequencing. ...This repres …
Patients (n = 496) were recruited from seven centres, primarily of Chinese (45%), Malay (37%), and Indian (13%) ethnicities. All GBA …
1,125 results