Literature DB >> 16157908

LRRK2 mutations in Parkinson disease.

M Farrer1, J Stone, I F Mata, S Lincoln, J Kachergus, M Hulihan, K J Strain, D M Maraganore.   

Abstract

To determine the frequency of LRRK2 mutations in idiopathic Parkinson disease (PD), the authors studied 786 PD probands, 32 affected siblings, 1,044 unaffected siblings, and 278 unrelated controls. The authors designed allelic discrimination assays for nine LRRK2 mutations and identified these in six probands with PD, one affected sibling, one unaffected sibling, and one unrelated control. Thus LRRK2 mutations only rarely cause idiopathic PD.

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Year:  2005        PMID： 16157908     DOI： 10.1212/01.wnl.0000169023.51764.b0

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  44 in total

1.  A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan.

Authors:  Alessio Di Fonzo; Yah-Huei Wu-Chou; Chin-Song Lu; Marina van Doeselaar; Erik J Simons; Christan F Rohé; Hsiu-Chen Chang; Rou-Shayn Chen; Yi-Hsin Weng; Nicola Vanacore; Guido J Breedveld; Ben A Oostra; Vincenzo Bonifati
Journal:  Neurogenetics       Date:  2006-04-22       Impact factor: 2.660

2.  Kinetic, mechanistic, and structural modeling studies of truncated wild-type leucine-rich repeat kinase 2 and the G2019S mutant.

Authors:  Min Liu; Stephanie Kang; Soumya Ray; Justin Jackson; Alexandra D Zaitsev; Scott A Gerber; Gregory D Cuny; Marcie A Glicksman
Journal:  Biochemistry       Date:  2011-10-07       Impact factor: 3.162

3.  Leucine-rich repeat kinase 2: a new player with a familiar theme for Parkinson's disease pathogenesis.

Authors:  Chenjian Li; M Flint Beal
Journal:  Proc Natl Acad Sci U S A       Date:  2005-11-07       Impact factor: 11.205

4.  The Roc domain of leucine-rich repeat kinase 2 is sufficient for interaction with microtubules.

Authors:  Payal N Gandhi; Xinglong Wang; Xiongwei Zhu; Shu G Chen; Amy L Wilson-Delfosse
Journal:  J Neurosci Res       Date:  2008-06       Impact factor: 4.164

5.  Does α-synuclein have a dual and opposing effect in preclinical vs. clinical Parkinson's disease?

Authors:  Katerina Markopoulou; Joanna M Biernacka; Sebastian M Armasu; Kari J Anderson; J Eric Ahlskog; Bruce A Chase; Sun Ju Chung; Julie M Cunningham; Matthew Farrer; Roberta Frigerio; Demetrius M Maraganore
Journal:  Parkinsonism Relat Disord       Date:  2014-03-05       Impact factor: 4.891

6.  Network-based metaanalysis identifies HNF4A and PTBP1 as longitudinally dynamic biomarkers for Parkinson's disease.

Authors:  Jose A Santiago; Judith A Potashkin
Journal:  Proc Natl Acad Sci U S A       Date:  2015-02-02       Impact factor: 11.205

Review 7.  Mitochondrial medicine for aging and neurodegenerative diseases.

Authors:  P Hemachandra Reddy
Journal:  Neuromolecular Med       Date:  2008-06-20       Impact factor: 3.843

8.  The chaperone activity of heat shock protein 90 is critical for maintaining the stability of leucine-rich repeat kinase 2.

Authors:  Lizhen Wang; Chengsong Xie; Elisa Greggio; Loukia Parisiadou; Hoon Shim; Lixin Sun; Jayanth Chandran; Xian Lin; Chen Lai; Wan-Jou Yang; Darren J Moore; Ted M Dawson; Valina L Dawson; Gabriela Chiosis; Mark R Cookson; Huaibin Cai
Journal:  J Neurosci       Date:  2008-03-26       Impact factor: 6.167

Review 9.  The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews.

Authors:  Avner Thaler; Elissa Ash; Ziv Gan-Or; Avi Orr-Urtreger; Nir Giladi
Journal:  J Neural Transm (Vienna)       Date:  2009-11       Impact factor: 3.575

10.  Metabolic activity determines efficacy of macroautophagic clearance of pathological oligomeric alpha-synuclein.

Authors:  Wai Haung Yu; Beatriz Dorado; Helen Yvette Figueroa; Lili Wang; Emmanuel Planel; Mark R Cookson; Lorraine N Clark; Karen E Duff
Journal:  Am J Pathol       Date:  2009-07-23       Impact factor: 4.307
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