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Titel:

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.

Dokumenttyp:
Journal Article; Research Support, Non-U.S. Gov't; Article
Autor(en):
Zimprich, A; Benet-Pagès, A; Struhal, W; Graf, E; Eck, SH; Offman, MN; Haubenberger, D; Spielberger, S; Schulte, EC; Lichtner, P; Rossle, SC; Klopp, N; Wolf, E; Seppi, K; Pirker, W; Presslauer, S; Mollenhauer, B; Katzenschlager, R; Foki, T; Hotzy, C; Reinthaler, E; Harutyunyan, A; Kralovics, R; Peters, A; Zimprich, F; Brücke, T; Poewe, W; Auff, E; Trenkwalder, C; Rost, B; Ransmayr, G; Winkelmann, J; Meitinger, T; Strom, TM
Abstract:
To identify rare causal variants in late-onset Parkinson disease (PD), we investigated an Austrian family with 16 affected individuals by exome sequencing. We found a missense mutation, c.1858G>A (p.Asp620Asn), in the VPS35 gene in all seven affected family members who are alive. By screening additional PD cases, we saw the same variant cosegregating with the disease in an autosomal-dominant mode with high but incomplete penetrance in two further families with five and ten affected members, resp...     »
Zeitschriftentitel:
Am J Hum Genet
Jahr:
2011
Band / Volume:
89
Heft / Issue:
1
Seitenangaben Beitrag:
168-75
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.ajhg.2011.06.008
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/21763483
Print-ISSN:
0002-9297
TUM Einrichtung:
Institut für Humangenetik; Neurologische Klinik und Poliklinik
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