KEGG   VARIANT: 120892v1
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
  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
  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

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