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2021 1
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2023 65
2024 11

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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. ...
The GBA gene encodes for the lysosomal enzyme glucocerebrosidase (GCase), which maintains glycosphingolipid homeostasis. ...
Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism.
Baden P, Perez MJ, Raji H, Bertoli F, Kalb S, Illescas M, Spanos F, Giuliano C, Calogero AM, Oldrati M, Hebestreit H, Cappelletti G, Brockmann K, Gasser T, Schapira AHV, Ugalde C, Deleidi M. Baden P, et al. Nat Commun. 2023 Apr 6;14(1):1930. doi: 10.1038/s41467-023-37454-4. Nat Commun. 2023. PMID: 37024507 Free PMC article.
Mutations in GBA1, the gene encoding the lysosomal enzyme beta-glucocerebrosidase (GCase), which cause Gaucher's disease, are the most frequent genetic risk factor for Parkinson's disease (PD). ...
Mutations in GBA1, the gene encoding the lysosomal enzyme beta-glucocerebrosidase (GCase), which cause Gaucher's disease, are the mos …
Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.
Rizig M, Bandres-Ciga S, Makarious MB, Ojo OO, Crea PW, Abiodun OV, Levine KS, Abubakar SA, Achoru CO, Vitale D, Adeniji OA, Agabi OP, Koretsky MJ, Agulanna U, Hall DA, Akinyemi RO, Xie T, Ali MW, Shamim EA, Ani-Osheku I, Padmanaban M, Arigbodi OM, Standaert DG, Bello AH, Dean MN, Erameh CO, Elsayed I, Farombi TH, Okunoye O, Fawale MB, Billingsley KJ, Imarhiagbe FA, Jerez PA, Iwuozo EU, Baker B, Komolafe MA, Malik L, Nwani PO, Daida K, Nwazor EO, Miano-Burkhardt A, Nyandaiti YW, Fang ZH, Obiabo YO, Kluss JH, Odeniyi OA, Hernandez DG, Odiase FE, Tayebi N, Ojini FI, Sidranksy E, Onwuegbuzie GA, D'Souza AM, Osaigbovo GO, Berhe B, Osemwegie N, Reed X, Oshinaike OO, Leonard HL, Otubogun FM, Alvarado CX, Oyakhire SI, Ozomma SI, Samuel SC, Taiwo FT, Wahab KW, Zubair YA, Iwaki H, Kim JJ, Morris HR, Hardy J, Nalls MA, Heilbron K, Norcliffe-Kaufmann L; Nigeria Parkinson Disease Research Network; International Parkinson's Disease Genomics Consortium Africa; Black and African American Connections to Parkinson's Disease Study Group; 23andMe Research Team; Blauwendraat C, Houlden H, Singleton A, Okubadejo NU; Global Parkinson's Genetics Program. Rizig M, et al. Lancet Neurol. 2023 Nov;22(11):1015-1025. doi: 10.1016/S1474-4422(23)00283-1. Epub 2023 Aug 23. Lancet Neurol. 2023. PMID: 37633302
The identified signal seems to be associated with decreased glucocerebrosidase activity. INTERPRETATION: Our study identified a novel genetic risk factor in GBA1 in people of African ancestry, which has not been seen in European populations, and it could be a major mechani …
The identified signal seems to be associated with decreased glucocerebrosidase activity. INTERPRETATION: Our study identified a novel …
Glucocerebrosidase mutations and Parkinson disease.
Vieira SRL, Schapira AHV. Vieira SRL, et al. J Neural Transm (Vienna). 2022 Sep;129(9):1105-1117. doi: 10.1007/s00702-022-02531-3. Epub 2022 Aug 6. J Neural Transm (Vienna). 2022. PMID: 35932311 Free PMC article. Review.
The discovery of glucocerebrosidase (GBA1) mutations as the greatest numerical genetic risk factor for the development of Parkinson disease (PD) resulted in a paradigm shift within the research landscape. ...
The discovery of glucocerebrosidase (GBA1) mutations as the greatest numerical genetic risk factor for the development of Parkinson d …
Genetic mechanism vs genetic subtypes: The example of GBA.
Senkevich K, Rudakou U, Gan-Or Z. Senkevich K, et al. Handb Clin Neurol. 2023;193:155-170. doi: 10.1016/B978-0-323-85555-6.00016-3. Handb Clin Neurol. 2023. PMID: 36803808 Review.
Genetic variants in GBA, encoding the lysosomal enzyme glucocerebrosidase (GCase), are common risk factors for Parkinson's disease (PD). ...
Genetic variants in GBA, encoding the lysosomal enzyme glucocerebrosidase (GCase), are common risk factors for Parkinson's disease (P …
Mechanisms of Glucocerebrosidase Dysfunction in Parkinson's Disease.
Chatterjee D, Krainc D. Chatterjee D, et al. J Mol Biol. 2023 Jun 15;435(12):168023. doi: 10.1016/j.jmb.2023.168023. Epub 2023 Feb 23. J Mol Biol. 2023. PMID: 36828270 Free article. Review.
Glucocerebrosidase dysfunction has been also observed in the absence of GBA1 mutations across different genetic and sporadic forms of PD and related disorders, suggesting a broader role of glucocerebrosidase in neurodegeneration. In this review, we highlight recent
Glucocerebrosidase dysfunction has been also observed in the absence of GBA1 mutations across different genetic and sporadic forms of
Glucocerebrosidase mutations disrupt the lysosome and now the mitochondria.
Klein AD, Outeiro TF. Klein AD, et al. Nat Commun. 2023 Oct 11;14(1):6383. doi: 10.1038/s41467-023-42107-7. Nat Commun. 2023. PMID: 37821433 Free PMC article.
beta-Glucocerebrosidase (GCase) mutations lead to glucosylceramide build-up in the lysosome, impacting alpha-synuclein aggregation and autophagy. ...
beta-Glucocerebrosidase (GCase) mutations lead to glucosylceramide build-up in the lysosome, impacting alpha-synuclein aggregation an …
Glucocerebrosidase-associated Parkinson disease: Pathogenic mechanisms and potential drug treatments.
Gegg ME, Menozzi E, Schapira AHV. Gegg ME, et al. Neurobiol Dis. 2022 May;166:105663. doi: 10.1016/j.nbd.2022.105663. Epub 2022 Feb 17. Neurobiol Dis. 2022. PMID: 35183702 Free article. Review.
The most common genetic risk factor for PD are variants in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), which is involved in sphingolipid metabolism. ...
The most common genetic risk factor for PD are variants in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase (GCase), wh …
Genetic testing for Parkinson's disease in clinical practice.
Gasser T. Gasser T. J Neural Transm (Vienna). 2023 Jun;130(6):777-782. doi: 10.1007/s00702-023-02612-x. Epub 2023 Mar 16. J Neural Transm (Vienna). 2023. PMID: 36929227 Free PMC article. Review.
The identification of disease-causing mutations or strong risk factors for Parkinson's disease in genes encoding proteins such as alpha-synuclein (SNCA), leucine-rich repeat kinase-2 (LRRK2), or glucocerebrosidase (GBA1) has led to a better understanding of the different c …
The identification of disease-causing mutations or strong risk factors for Parkinson's disease in genes encoding proteins such as alpha-synu …
119 results