VARIANT: 5582v2 Help
Entry
Name
PRKCG activating mutation
Gene
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
Variation
Variation
Network
Disease
H00063 Spinocerebellar ataxia (SCA)
Reference
Authors
Adachi N, Kobayashi T, Takahashi H, Kawasaki T, Shirai Y, Ueyama T, Matsuda T, Seki T, Sakai N, Saito N
Title
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis.
Journal
Reference
Authors
Wong MMK, Hoekstra SD, Vowles J, Watson LM, Fuller G, Nemeth AH, Cowley SA, Ansorge O, Talbot K, Becker EBE
Title
Neurodegeneration in SCA14 is associated with increased PKCgamma kinase activity, mislocalization and aggregation.
Journal
Reference
Authors
Chen DH, Cimino PJ, Ranum LP, Zoghbi HY, Yabe I, Schut L, Margolis RL, Lipe HP, Feleke A, Matsushita M, Wolff J, Morgan C, Lau D, Fernandez M, Sasaki H, Raskind WH, Bird TD
Title
The clinical and genetic spectrum of spinocerebellar ataxia 14.
Journal
Reference
Authors
Klebe S, Durr A, Rentschler A, Hahn-Barma V, Abele M, Bouslam N, Schols L, Jedynak P, Forlani S, Denis E, Dussert C, Agid Y, Bauer P, Globas C, Wullner U, Brice A, Riess O, Stevanin G
Title
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.
Journal
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