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Titel:

The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity.

Dokumenttyp:
Comparative Study; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Gloeckner, CJ; Kinkl, N; Schumacher, A; Braun, RJ; O'Neill, E; Meitinger, T; Kolch, W; Prokisch, H; Ueffing, M
Abstract:
Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) have been recently identified in families with autosomal dominant late-onset Parkinson disease (PD). The LRRK2 protein consists of multiple domains and belongs to the Roco family, a novel group of the Ras/GTPase superfamily. Besides the GTPase (Roc) domain, it contains a predicted kinase domain, with homology to MAP kinase kinase kinases. Using cell fractionation and immunofluorescence microscopy, we show that LRRK2 is localized in the c...     »
Zeitschriftentitel:
Hum Mol Genet
Jahr:
2006
Band / Volume:
15
Heft / Issue:
2
Seitenangaben Beitrag:
223-32
Sprache:
eng
Volltext / DOI:
doi:10.1093/hmg/ddi439
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/16321986
Print-ISSN:
0964-6906
TUM Einrichtung:
Institut für Humangenetik
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