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The genetics of dementia with Lewy bodies.
Tolea MI, Galvin JE. Tolea MI, et al. Handb Clin Neurol. 2018;148:431-440. doi: 10.1016/B978-0-444-64076-5.00028-4. Handb Clin Neurol. 2018. PMID: 29478592 Review.
Dementia with Lewy bodies (DLB), the most common non-AD neurodegenerative disease has in the past several decades attracted the attention of the neurological scientific community due to its highly negative impact on the quality of life of both the affected individua …
Dementia with Lewy bodies (DLB), the most common non-AD neurodegenerative disease has in the past several decades attracted th …
Lysosomal functions and dysfunctions: Molecular and cellular mechanisms underlying Gaucher disease and its association with Parkinson disease.
Horowitz M, Braunstein H, Zimran A, Revel-Vilk S, Goker-Alpan O. Horowitz M, et al. Adv Drug Deliv Rev. 2022 Aug;187:114402. doi: 10.1016/j.addr.2022.114402. Epub 2022 Jun 25. Adv Drug Deliv Rev. 2022. PMID: 35764179 Review.
In PD and related disorders, collectively called synucleinopathies, the hallmark pathology is alpha-synuclein positive aggregates referred to as Lewy bodies or Lewy neurites and the death of dopaminergic neurons. While PD is mostly sporadic, in 5-10% of cases …
In PD and related disorders, collectively called synucleinopathies, the hallmark pathology is alpha-synuclein positive aggregates referred t …
Network-based meta-analysis and the candidate gene association studies reveal novel ethnicity-specific variants in MFSD3 and MRPL43 associated with dementia with Lewy bodies.
Shigemizu D, Asanomi Y, Akiyama S, Higaki S, Sakurai T, Ito K, Niida S, Ozaki K. Shigemizu D, et al. Am J Med Genet B Neuropsychiatr Genet. 2022 Jul;189(5):139-150. doi: 10.1002/ajmg.b.32908. Epub 2022 Jun 28. Am J Med Genet B Neuropsychiatr Genet. 2022. PMID: 35765761 Free PMC article.
Dementia with Lewy bodies (DLB) is the second most common form of neurodegenerative dementia in elderly people, following Alzheimer's disease. Only three genes, SNCA (alpha-synuclein), APOE (apolipoprotein E), and GBA (glucosylceramidase), have been co …
Dementia with Lewy bodies (DLB) is the second most common form of neurodegenerative dementia in elderly people, following Alzh …
Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications.
Balestrino R, Schapira AHV. Balestrino R, et al. Neuroscientist. 2018 Oct;24(5):540-559. doi: 10.1177/1073858417748875. Epub 2018 Feb 4. Neuroscientist. 2018. PMID: 29400127 Review.
Parkinson disease (PD) is a complex neurodegenerative disease characterised by multiple motor and non-motor symptoms. In the last 20 years, more than 20 genes have been identified as causes of parkinsonism. Following the observation of higher risk of PD in patients affecte …
Parkinson disease (PD) is a complex neurodegenerative disease characterised by multiple motor and non-motor symptoms. In the last 20 years, …
Glucocerebrosidase mutations: A paradigm for neurodegeneration pathways.
Vieira SRL, Schapira AHV. Vieira SRL, et al. Free Radic Biol Med. 2021 Nov 1;175:42-55. doi: 10.1016/j.freeradbiomed.2021.08.230. Epub 2021 Aug 25. Free Radic Biol Med. 2021. PMID: 34450264
Biallelic (homozygous or compound heterozygous) glucocerebrosidase gene (GBA) mutations cause Gaucher disease, whereas heterozygous mutations are numerically the most important genetic risk factor for Parkinson disease (PD) and are associated with the development of …
Biallelic (homozygous or compound heterozygous) glucocerebrosidase gene (GBA) mutations cause Gaucher disease, whereas heterozygous …
Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.
Barkhuizen M, Anderson DG, Grobler AF. Barkhuizen M, et al. Neurochem Int. 2016 Feb;93:6-25. doi: 10.1016/j.neuint.2015.12.004. Epub 2015 Dec 30. Neurochem Int. 2016. PMID: 26743617 Review.
The GBA gene encodes the lysomal hydrolase glucocerebrosidase. Whilst bi-allelic GBA mutations cause Gaucher disease, both mono- and bi-allelic mutations confer risk for Parkinson's disease. ...In some cases, GBA mutations are also responsible for familial Pa …
The GBA gene encodes the lysomal hydrolase glucocerebrosidase. Whilst bi-allelic GBA mutations cause Gaucher disease, both mono- and …
Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.
Martin S, Smolders S, Van den Haute C, Heeman B, van Veen S, Crosiers D, Beletchi I, Verstraeten A, Gossye H, Gelders G, Pals P, Hamouda NN, Engelborghs S, Martin JJ, Eggermont J, De Deyn PP, Cras P, Baekelandt V, Vangheluwe P, Van Broeckhoven C; BELNEU consortium. Martin S, et al. Acta Neuropathol. 2020 Jun;139(6):1001-1024. doi: 10.1007/s00401-020-02145-7. Epub 2020 Mar 14. Acta Neuropathol. 2020. PMID: 32172343 Free PMC article.
Parkinson's disease (PD) is a progressive neurodegenerative brain disease presenting with a variety of motor and non-motor symptoms, loss of midbrain dopaminergic neurons in the substantia nigra pars compacta and the occurrence of alpha-synuclein-positive Lewy bodies …
Parkinson's disease (PD) is a progressive neurodegenerative brain disease presenting with a variety of motor and non-motor symptoms, loss of …
Measurement of GCase Activity in Cultured Cells.
Shojima Y, Ogata J, Tsunemi T, Imai Y, Hattori N. Shojima Y, et al. Methods Mol Biol. 2021;2322:47-52. doi: 10.1007/978-1-0716-1495-2_5. Methods Mol Biol. 2021. PMID: 34043191
Defects in GCase lead to the accumulation of glucosylceramide, which causes the development of the lysosomal storage disease known as Gaucher's disease. Loss-of-function mutations in the GBA1 gene are the most important genetic risk factor for synucleinopathies, such as Pa …
Defects in GCase lead to the accumulation of glucosylceramide, which causes the development of the lysosomal storage disease known as Gauche …
Common Variants Coregulate Expression of GBA and Modifier Genes to Delay Parkinson's Disease Onset.
Schierding W, Farrow S, Fadason T, Graham OEE, Pitcher TL, Qubisi S, Davidson AJ, Perry JK, Anderson TJ, Kennedy MA, Cooper A, O'Sullivan JM. Schierding W, et al. Mov Disord. 2020 Aug;35(8):1346-1356. doi: 10.1002/mds.28144. Epub 2020 Jun 18. Mov Disord. 2020. PMID: 32557794 Free PMC article.
BACKGROUND: GBA mutations are numerically the most significant genetic risk factor for Parkinson's disease (PD), yet these mutations have low penetrance, suggesting additional mechanisms. ...The SNPs' regulatory impacts provide a plausible explanation for the variab …
BACKGROUND: GBA mutations are numerically the most significant genetic risk factor for Parkinson's disease (PD), yet these mutatio …
Neuroimaging, genetic, and enzymatic study in a Japanese family with a GBA gross deletion.
Ichinose Y, Ishiura H, Tanaka M, Yoshimura J, Doi K, Umeda T, Yamauchi H, Tsuchiya M, Koh K, Yamashiro N, Mitsui J, Goto J, Onishi H, Ohtsuka T, Shindo K, Morishita S, Tsuji S, Takiyama Y. Ichinose Y, et al. Parkinsonism Relat Disord. 2019 Apr;61:57-63. doi: 10.1016/j.parkreldis.2018.11.028. Epub 2018 Dec 2. Parkinsonism Relat Disord. 2019. PMID: 30528172
INTRODUCTION: Glucocerebrosidase gene (GBA) variants are associated with Parkinson's disease (PD) and dementia with Lewy bodies (DLB). The molecular mechanisms underlying these diseases with GBA variants, however, are not well understood. ...CONCLUSION: We confirmed …
INTRODUCTION: Glucocerebrosidase gene (GBA) variants are associated with Parkinson's disease (PD) and dementia with Lewy bodies …
16 results