Understanding the genes for Parkinson's disease

了解帕金森病的基因

• 批准号: MR/N026004/1
• 负责人: John Hardy
• 金额: $ 180.59万
• 依托单位: University College London
• 依托单位国家: 英国
• 项目类别: Research Grant
• 财政年份: 2016
• 资助国家: 英国
• 起止时间: 2016 至 无数据
• 项目状态: 已结题
• 来源: https://gtr.ukri.org/projects?ref=MR%2FN026004%2F1
• 关键词: Understanding; genes; Parkinson; disease

We now know many of the genes which cause and predispose to Parkinson's disease but for many others, we only know their chromosomal position. In this grant we seek to find these genes and work out how the function of all the genes for the disease relate to each other. We already know that many of the genes for the disease are involved in two related processes: autophagy (how the cell removes damages cell components and proteins) and mitophagy (how the cell removes damaged mitochondria). We will assess whether these new genes are in the same pathways or if there are other relevant pathways involved in the disease Finally, we will develop cellular assays for these pathways so that we can work towards developing drugs which correct the defects we have identified.

我们现在知道许多导致和易患帕金森氏症的基因，但对于许多其他基因，我们只知道它们的染色体位置。在这项资助中，我们试图找到这些基因，并弄清楚所有疾病基因的功能如何相互关联。我们已经知道，这种疾病的许多基因参与了两个相关的过程：自噬（细胞如何去除受损细胞成分和蛋白质）和线粒体自噬（细胞如何去除受损线粒体）。我们将评估这些新基因是否在相同的途径中，或者是否有其他相关的途径参与疾病。最后，我们将开发这些途径的细胞分析，以便我们能够开发药物来纠正我们已经确定的缺陷。

项目成果

Patient-specific Alzheimer-like pathology in trisomy 21 cerebral organoids reveals BACE2 as a gene dose-sensitive AD suppressor in human brain.

• DOI: 10.1038/s41380-020-0806-5
• 发表时间: 2021-10
• 期刊: Molecular psychiatry
• 影响因子: 11
• 作者: Alić I;Goh PA;Murray A;Portelius E;Gkanatsiou E;Gough G;Mok KY;Koschut D;Brunmeir R;Yeap YJ;O'Brien NL;Groet J;Shao X;Havlicek S;Dunn NR;Kvartsberg H;Brinkmalm G;Hithersay R;Startin C;Hamburg S;Phillips M;Pervushin K;Turmaine M;Wallon D;Rovelet-Lecrux A;Soininen H;Volpi E;Martin JE;Foo JN;Becker DL;Rostagno A;Ghiso J;Krsnik Ž;Šimić G;Kostović I;Mitrečić D;LonDownS Consortium;Francis PT;Blennow K;Strydom A;Hardy J;Zetterberg H;Nižetić D
• 通讯作者: Nižetić D

Heritability Enrichment Implicates Microglia in Parkinson's Disease Pathogenesis.

• DOI: 10.1002/ana.26032
• 发表时间: 2021-05
• 期刊: ANNALS OF NEUROLOGY
• 影响因子: 11.2
• 作者: Andersen, Maren Stolp;Bandres-Ciga, Sara;Reynolds, Regina H.;Hardy, John;Ryten, Mina;Krohn, Lynne;Gan-Or, Ziv;Holtman, Inge R.;Pihlstrom, Lasse
• 通讯作者: Pihlstrom, Lasse

Amyloid precursor protein processing in human neurons with an allelic series of the PSEN1 intron 4 deletion mutation and total presenilin-1 knockout

• DOI: 10.1093/braincomms/fcz024
• 发表时间: 2019-01-01
• 期刊: BRAIN COMMUNICATIONS
• 影响因子: 4.8
• 作者: Arber, Charles;Villegas-Llerena, Claudio;Wray, Selina
• 通讯作者: Wray, Selina