Entry |
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Name |
PRKCG inactivating mutation
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Gene |
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Organism |
hsa_var Human gene variants (Homo sapiens)
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Variation |
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Variation |
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Variation |
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Variation |
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Network |
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Disease |
H00063 | Spinocerebellar ataxia (SCA) |
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Reference |
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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 |
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Reference |
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Authors |
Nolte D, Klebe S, Baron R, Deuschl G, Muller U |
Title |
Codon 101 of PRKCG, a preferential mutation site in SCA14. |
Journal |
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Reference |
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Authors |
Chen DH, Brkanac Z, Verlinde CL, Tan XJ, Bylenok L, Nochlin D, Matsushita M, Lipe H, Wolff J, Fernandez M, Cimino PJ, Bird TD, Raskind WH |
Title |
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. |
Journal |
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Reference |
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Authors |
Visser JE, Bloem BR, van de Warrenburg BP |
Title |
PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. |
Journal |
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LinkDB |
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