VPS35 mutations in Parkinson disease.

doi:10.1016/j.ajhg.2011.06.001

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Article

VPS35 mutations in Parkinson disease.

American journal of human genetics - 15 Jul 2011

Vilariño-Güell Carles, Wider Christian, Ross Owen A, Dachsel Justus C, Kachergus Jennifer M, Lincoln Sarah J, Soto-Ortolaza Alexandra I, Cobb Stephanie A, Wilhoite Greggory J, Bacon Justin A, Behrouz Bahareh, Melrose Heather L, Hentati Emna, Puschmann Andreas, Evans Daniel M, Conibear Elizabeth, Wasserman Wyeth W, Aasly Jan O, Burkhard Pierre R, Djaldetti Ruth, Ghika Joseph, Hentati Faycal, Krygowska-Wajs Anna, Lynch Tim, Melamed Eldad, Rajput Alex, Rajput Ali H, Solida Alessandra, Wu Ruey-Meei, Uitti Ryan J, Wszolek Zbigniew K, Vingerhoets François, Farrer Matthew J

Abstract excerpt

The identification of genetic causes for Mendelian disorders has been based on the collection of multi-incident families, linkage analysis, and sequencing of genes in candidate intervals. This study describes the application of next-generation sequencing technologies to a Swiss kindred presenting with autosomal-dominant, late-onset Parkinson disease (PD). The family has tremor-predominant dopa-responsive...

Topics

Adult
Age of Onset
Amino Acid Sequence
Biological Transport
Endosomes
Female
Gene Expression Regulation
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Genome, Human

Humans

Male

Middle Aged

Molecular Sequence Data

Mutation

Parkinson Disease

Pedigree

Vacuoles

Vesicular Transport Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 21763482
DOI: 10.1016/j.ajhg.2011.06.001
PMCID: PMC3135796

Genes

VPS35

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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