VARIANT: 120892v1
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Entry
120892v1 Variant
Name
LRRK2 mutation
Gene
LRRK2
leucine rich repeat kinase 2 [KO:
K08844
]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar:
609007
Network
nt06414
Apoptosis
nt06463
Parkinson disease
Element
N01047
Mutation-activated LRRK2 to intrinsic apoptotic pathway
Reference
PMID:
19308469
Authors
Mata IF, Hutter CM, Gonzalez-Fernandez MC, de Pancorbo MM, Lezcano E, Huerta C, Blazquez M, Ribacoba R, Guisasola LM, Salvador C, Gomez-Esteban JC, Zarranz JJ, Infante J, Jankovic J, Deng H, Edwards KL, Alvarez V, Zabetian CP
Title
Lrrk2 R1441G-related Parkinson's disease: evidence of a common founding event in the seventh century in Northern Spain.
Journal
Neurogenetics 10:347-53 (2009)
DOI:
10.1007/s10048-009-0187-z
Reference
PMID:
15541309
Authors
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, Muller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T
Title
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.
Journal
Neuron 44:601-7 (2004)
DOI:
10.1016/j.neuron.2004.11.005
All links
Gene (1)
OMIMVAR (1)
Literature (2)
PubMed (2)
All databases (3)
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