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    Amyotroph Lateral Scler. 2008 Jun;9(3):141-8.

    Evaluation of the Golgi trafficking protein VPS54 (wobbler) as a candidate for ALS.

    Meisler MH, Russ C, Montgomery KT, Greenway M, Ennis S, Hardiman O, Figlewicz DA, Quenneville NR, Conibear E, Brown RH Jr.

    Source

    Department of Human Genetics, University of Michigan, Ann Arbor, Michigan48109-0618, USA. meislerm@umich.edu

    Abstract

    VPS54 is a component of the Golgi-associated retrograde protein (GARP) complex of vesicle sorting proteins. A missense mutation of Vps54 is responsible for motor neuron disease in the wobbler mouse, but the human gene on chromosome 2p14-15 has not been evaluated as a disease gene. We completely sequenced the 22 coding exons from 96 individuals with sporadic ALS, 96 individuals with familial ALS, and 96 controls. Twenty-one novel SNPs were identified. The non-synonymous variant, T360A, was observed in one patient and 0/910 controls. Several polymorphic non-synonymous SNPs were also observed in patients and controls. These initial data suggest that mutations in VPS54 are not a major cause of ALS.

    PMID:
    18574757
    [PubMed - indexed for MEDLINE]

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