Perry, Elaine K

Publication Detail

The publication detail shows the title, authors (with indicators showing other profiled authors), information on the publishing organization, abstract and a link to the article in PubMed. This abstract is what is used to create the fingerprint of the publication. If any grants are referenced by the publication, they will be listed here as well.

Translation initiator EIF4G1 mutations in familial Parkinson disease.

Marie-Christine Chartier-Harlin; Justus C Dachsel; Carles Vilariño-Güell; Sarah J Lincoln; Frédéric Leprêtre; Mary M Hulihan; Jennifer Kachergus; Austen J Milnerwood; Lucia Tapia; Mee-Sook Song; et al. (Profiled Author: Dickson, Dennis)

Université Lille Nord de France.
American journal of human genetics 2011;89(3):398-406.

Genome-wide analysis of a multi-incident family with autosomal-dominant parkinsonism has implicated a locus on chromosomal region 3q26-q28. Linkage and disease segregation is explained by a missense mutation c.3614G>A (p.Arg1205His) in eukaryotic translation initiation factor 4-gamma (EIF4G1). Subsequent sequence and genotype analysis identified EIF4G1 c.1505C>T (p.Ala502Val), c.2056G>T (p.Gly686Cys), c.3490A>C (p.Ser1164Arg), c.3589C>T (p.Arg1197Trp) and c.3614G>A (p.Arg1205His) substitutions in affected subjects with familial parkinsonism and idiopathic Lewy body disease but not in control subjects. Despite different countries of origin, persons with EIF4G1 c.1505C>T (p.Ala502Val) or c.3614G>A (p.Arg1205His) mutations appear to share haplotypes consistent with ancestral founders. eIF4G1 p.Ala502Val and p.Arg1205His disrupt eIF4E or eIF3e binding, although the wild-type protein does not, and render mutant cells more vulnerable to reactive oxidative species. EIF4G1 mutations implicate mRNA translation initiation in familial parkinsonism and highlight a convergent pathway for monogenic, toxin and perhaps virally-induced Parkinson disease.

5 Originating Grant

• 1.

  DICKSON, DENNIS WILLIAM

  Genetics and Molecular Biology of Parkinsonism

  1 September 2010 - 30 June 2017

  NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

  Total Funding: $ 2,996,806

• 2.

  DICKSON, DENNIS WILLIAM

  Genetics and Molecular Biology Parkinsonism

  1 September 2010 - 31 August 2011

  NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

  Total Funding: $ 116,250

• 3.

  Hardy, John A

  GENETICS AND MOLECULAR BIOLOGY OF PARKINSONISM

  30 September 1999 - 31 July 2004

  NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

  Total Funding: $ 3,886,270

• 4.

  Dickson, Dennis William

  Genetics and Molecular Biology of Parkinsonism

  30 September 1999 - 31 August 2009

  NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

  Total Funding: $ 8,904,777

• 5.

  Dickson, Dennis W

  GENETICS AND MOLECULAR BIOLOGY OF PARKINSONISM

  30 September 1999 - 29 September 2004

  NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE

  Total Funding: $ 2,454,521

Scientific Context

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