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378 results

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Page 1
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.
Parkinson's disease (PD) is the second most common degenerative disorder. Although the disease was described more than 200 years ago, its pathogenetic mechanisms have not yet been fully described. ...GBA mutations are the most common genetic risk factor of the di …
Parkinson's disease (PD) is the second most common degenerative disorder. Although the disease was described more than 200 yea …
Epidemiology, environmental risk factors and genetics of Parkinson's disease.
Delamarre A, Meissner WG. Delamarre A, et al. Presse Med. 2017 Mar;46(2 Pt 1):175-181. doi: 10.1016/j.lpm.2017.01.001. Epub 2017 Feb 8. Presse Med. 2017. PMID: 28189372 Review.
Parkinson's disease (PD) is a frequent neurodegenerative disease with a premotor phase that lasts several years. ...SNCA, LRRK2, Parkin, Pink1,) and non-Mendelian factors (e.g. single nucleotide polymorphisms). Glucocerebrosidase gene mutations (Gaucher di …
Parkinson's disease (PD) is a frequent neurodegenerative disease with a premotor phase that lasts several years. ...SNCA, LRRK …
Gene Therapy for Parkinson's Disease Associated with GBA1 Mutations.
Abeliovich A, Hefti F, Sevigny J. Abeliovich A, et al. J Parkinsons Dis. 2021;11(s2):S183-S188. doi: 10.3233/JPD-212739. J Parkinsons Dis. 2021. PMID: 34151863 Free PMC article. Review.
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. Among the lysosomal genes involved, GBA1 has the largest impact on Parkinson's disease risk. ...PR001 is curren …
Human genetic studies as well as studies in animal models indicate that lysosomal dysfunction plays a key role in the pathogenesis of Parkin …
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). ...Furthermore, GCase interacts with the mitochondrial quality co …
Mutations in GBA1, the gene encoding the lysosomal enzyme beta-glucocerebrosidase (GCase), which cause Gaucher's disease, are …
Preclinical and clinical evaluation of the LRRK2 inhibitor DNL201 for Parkinson's disease.
Jennings D, Huntwork-Rodriguez S, Henry AG, Sasaki JC, Meisner R, Diaz D, Solanoy H, Wang X, Negrou E, Bondar VV, Ghosh R, Maloney MT, Propson NE, Zhu Y, Maciuca RD, Harris L, Kay A, LeWitt P, King TA, Kern D, Ellenbogen A, Goodman I, Siderowf A, Aldred J, Omidvar O, Masoud ST, Davis SS, Arguello A, Estrada AA, de Vicente J, Sweeney ZK, Astarita G, Borin MT, Wong BK, Wong H, Nguyen H, Scearce-Levie K, Ho C, Troyer MD. Jennings D, et al. Sci Transl Med. 2022 Jun 8;14(648):eabj2658. doi: 10.1126/scitranslmed.abj2658. Epub 2022 Jun 8. Sci Transl Med. 2022. PMID: 35675433
Thus, inhibition of LRRK2 is a potential disease-modifying therapeutic strategy for PD. DNL201 is an investigational, first-in-class, CNS-penetrant, selective, ATP-competitive, small-molecule LRRK2 kinase inhibitor. ...Inhibition of LRRK2 by DNL201 demonstrated improved ly …
Thus, inhibition of LRRK2 is a potential disease-modifying therapeutic strategy for PD. DNL201 is an investigational, first-in-class, …
Involvement of Gaucher Disease Mutations in Parkinson Disease.
Vilageliu L, Grinberg D. Vilageliu L, et al. Curr Protein Pept Sci. 2017;18(7):758-764. doi: 10.2174/1389203717666160311115956. Curr Protein Pept Sci. 2017. PMID: 26965692 Review.
Gaucher disease is an autosomal recessive lysosomal storage disorder, caused by mutations in the GBA gene. The frequency of Gaucher disease patients and heterozygote carriers that developed Parkinson disease has been found to be above that of th …
Gaucher disease is an autosomal recessive lysosomal storage disorder, caused by mutations in the GBA gene. The frequency of …
[Gaucher disease].
Nguyen Y, Stirnemann J, Belmatoug N. Nguyen Y, et al. Rev Prat. 2020 Apr;70(4):416-420. Rev Prat. 2020. PMID: 32877100 Review. French.
Gaucher disease. Gaucher disease is a rare lysosomal autosomal recessive disease, caused by a deficiency of glucocerebrosidase, a lysosomal enzyme. ...Patients often experience delays before their disease is being diagnosed. Thus, there i …
Gaucher disease. Gaucher disease is a rare lysosomal autosomal recessive disease, caused by a deficiency …
Neuropathic Gaucher disease.
Pastores GM. Pastores GM. Wien Med Wochenschr. 2010 Dec;160(23-24):605-8. doi: 10.1007/s10354-010-0850-x. Wien Med Wochenschr. 2010. PMID: 21221912 Review.
Gaucher disease (GD) has been conventionally demarcated into clinical variants, based on the presence or absence of primary central nervous system (CNS) involvement. In cases with primary CNS involvement (types 2 and 3 GD), distinctions have been made on the basis o …
Gaucher disease (GD) has been conventionally demarcated into clinical variants, based on the presence or absence of primary ce …
Gaucher disease and comorbidities: B-cell malignancy and parkinsonism.
Cox TM, Rosenbloom BE, Barker RA. Cox TM, et al. Am J Hematol. 2015 Jul;90 Suppl 1:S25-8. doi: 10.1002/ajh.24057. Am J Hematol. 2015. PMID: 26096744 Free article. Review.
Data emerging from the International Collaborative Gaucher Group (ICGG) Gaucher Registry together with other contemporary clinical surveys have revealed a close association between Gaucher disease and non-Hodgkin's B-cell lymphoma and myeloma and Ga …
Data emerging from the International Collaborative Gaucher Group (ICGG) Gaucher Registry together with other contemporary clin …
Neuropathological Features of Gaucher Disease and Gaucher Disease with Parkinsonism.
Furderer ML, Hertz E, Lopez GJ, Sidransky E. Furderer ML, et al. Int J Mol Sci. 2022 May 23;23(10):5842. doi: 10.3390/ijms23105842. Int J Mol Sci. 2022. PMID: 35628652 Free PMC article. Review.
Deficient acid beta-glucocerebrosidase activity due to biallelic mutations in GBA1 results in Gaucher disease (GD). Patients with this lysosomal storage disorder exhibit a wide range of associated manifestations, spanning from virtually asymptomatic adults to infant …
Deficient acid beta-glucocerebrosidase activity due to biallelic mutations in GBA1 results in Gaucher disease (GD). Patients w …
378 results