Genetics and Molecular Biology of Parkinsonism

帕金森病的遗传学和分子生物学

• 批准号: 7942430
• 负责人: DENNIS WILLIAM DICKSON
• 金额: $ 46.3万
• 依托单位: MAYO CLINIC JACKSONVILLE
• 依托单位国家: 美国
• 财政年份: 1999
• 资助国家: 美国
• 起止时间: 1999-09-30 至 2010-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7942430
• 关键词: Aging; Authorization documentation; Autopsy; Cell Line; Clinic; Clinical; DNA; Evaluation; Family; Frequencies; Funding; Gene Expression; Genes; Genetic; Genetic Screening; Goals; Grant; Histologic; Individual; Inflammation; Lewy Bodies; Lewy Body Disease; Longitudinal Studies; Measures; Medical Record Linkage; Mitochondria; Molecular Biology; Movement Disorders; National Institute of Neurological Disorders and Stroke; Parkinson Disease; Parkinson' s Dementia; Parkinsonian Disorders; Patients; Population Genetics; Proteins; Recruitment Activity; Research; Research Project Grants; Role; Rotenone; Sampling; System; Toxin; alpha synuclein; alpha synuclein gene; clinical material; early onset; genome-wide linkage; multicatalytic endopeptidase complex; multidisciplinary; neuron loss; neuropathology; repository; tau Proteins

DESCRIPTION (provided by applicant): The Udall Center for Excellence in Parkinson's Disease Research at the Mayo Clinic is an integrated, multidisciplinary center that studies the Genetics and Molecular Biology of Parkinsonism. The Center draws upon the clinical strengths of the Mayo Clinic Movement Disorder Section as well as epidemiologic and longitudinal studies of Parkinson's disease (PD), dementia with Lewy bodies and aging that provide clinical material for research projects. The Clinical Core is a multi-national effort to identify and characterize multiplex families with PD for genetic studies of PD. The Clinical Core also recruits and follows sporadic PD patients and arranges for postmortem studies. The Genetic Core provides genetic screening and performs genome wide linkage studies of familial PD. When permission is granted, samples are submitted to the NINDS DNA repository. The Neuropathology Core performs postmortem evaluations of PD, provides histologic support for projects and provides postmortem material collected through several different avenues for the research projects. Project 1 builds upon progress from the previous funding period demonstrating multiplication of the alpha-synuclein gene (SCNA) in autosomal dominant, early-onset PD and focuses on population genetics of SNCA, characterization of SNCA multiplications (including the size and genes within the multiplication regions), and measuring temporal and regional alpha-synuclein expression in normals and a-synucleinopathies. Project 2 is a clinicopathologic study that determines the frequency and clinical expression of Lewy bodies in normal individuals using the Mayo Medical Records Linkage System, with studies on the role of neuronal loss, inflammation and tau on clinical features. Project 3 uses cell lines that inducibly express alpha-synuclein as well as mitochondrial toxins, such as rotenone, to study truncated and aggregated alpha-synuclein with the goal of determining the role of interacting proteins in aggregate formation and the effects of aggregates on proteasome function and gene expression.

描述（由申请人提供）：

项目成果

Proteomic profiling of phosphoproteins and glycoproteins responsive to wild-type alpha-synuclein accumulation and aggregation.

• DOI: 10.1016/j.bbapap.2008.09.025
• 发表时间: 2009-02
• 期刊: BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS
• 影响因子: 3.2
• 作者: Kulathingal, Jayanarayan;Ko, Li-wen;Cusack, Bernadette;Yen, Shu-Hui
• 通讯作者: Yen, Shu-Hui

Voxel-based morphometry and its application to movement disorders.

• DOI: 10.1016/s1353-8020(08)70039-7
• 发表时间: 2007
• 期刊: Parkinsonism & related disorders
• 影响因子: 4.1
• 作者: J. Whitwell;K. Josephs

FGF20 and Parkinson's disease: no evidence of association or pathogenicity via alpha-synuclein expression.

• DOI: 10.1002/mds.22442
• 发表时间: 2009-02-15
• 期刊: MOVEMENT DISORDERS
• 影响因子: 8.6
• 作者: Wider, Christian;Dachsel, Justus C.;Soto, Alexandra I.;Heckman, Michael G.;Diehl, Nancy N.;Yue, Mei;Lincoln, Sarah;Aasly, Jan O.;Haugarvoll, Kristoffer;Trojanowski, John Q.;Papapetropoulos, Spiridon;Mash, Deborah;Rajput, Alex;Rajput, Ali H.;Gibson, J. Mark;Lynch, Timothy;Dickson, Dennis W.;Uitti, Ryan J.;Wszolek, Zbigniew K.;Farrer, Matthew J.;Ross, Owen A.
• 通讯作者: Ross, Owen A.

Brainstem atrophy on routine MR study in pallidopontonigral degeneration.

苍白球脑桥黑体变性常规 MR 研究中的脑干萎缩。

• DOI: 10.1007/s00415-009-5013-x
• 发表时间: 2009
• 期刊: Journal of neurology
• 影响因子: 6
• 作者: Slowinski,JerzyL;Schweitzer,KatherineJ;Imamura,Akiko;Uitti,RyanJ;Strongosky,AudreyJ;Dickson,DennisW;Broderick,DanielF;Wszolek,ZbigniewK
• 通讯作者: Wszolek,ZbigniewK

Clinical characteristics of Parkinson's disease among Jewish Ethnic groups in Israel.

以色列犹太族群帕金森病的临床特征。

• DOI: 10.1007/s00702-008-0074-z
• 发表时间: 2008
• 期刊: Journal of neural transmission (Vienna, Austria : 1996)
• 作者: Djaldetti,R;Hassin-Baer,S;Farrer,MJ;Vilariño-Güell,C;Ross,OA;Kolianov,V;Yust-Katz,S;Treves,TA;Barhum,Y;Hulihan,M;Melamed,E
• 通讯作者: Melamed,E