Benutzer: Gast  Login
Titel:

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.

Dokumenttyp:
Journal Article; Article
Autor(en):
Zimprich, A; Biskup, S; Leitner, P; Lichtner, P; Farrer, M; Lincoln, S; Kachergus, J; Hulihan, M; Uitti, RJ; Calne, DB; Stoessl, AJ; Pfeiffer, RF; Patenge, N; Carbajal, IC; Vieregge, P; Asmus, F; Müller-Myhsok, B; Dickson, DW; Meitinger, T; Strom, TM; Wszolek, ZK; Gasser, T
Abstract:
We have previously linked families with autosomal-dominant, late-onset parkinsonism to chromosome 12p11.2-q13.1 (PARK8). By high-resolution recombination mapping and candidate gene sequencing in 46 families, we have found six disease-segregating mutations (five missense and one putative splice site mutation) in a gene encoding a large, multifunctional protein, LRRK2 (leucine-rich repeat kinase 2). It belongs to the ROCO protein family and includes a protein kinase domain of the MAPKKK class and...     »
Zeitschriftentitel:
Neuron
Jahr:
2004
Band / Volume:
44
Heft / Issue:
4
Seitenangaben Beitrag:
601-7
Sprache:
eng
Volltext / DOI:
doi:10.1016/j.neuron.2004.11.005
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/15541309
Print-ISSN:
0896-6273
TUM Einrichtung:
Institut für Humangenetik
 BibTeX