A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia

Journal of Medical Genetics

Volumn 51, Issue 9, 2014, Pages 590-595

  Tsoi, Ho ^a   Yu, Allen C S ^a   Chen, Zhefan S ^a   Ng, Nelson K N ^a   Chan, Anne Y Y ^b   Yuen, Liz Y P ^b   Abrigo, Jill M ^b   Tsang, Suk Ying ^a   Tsui, Stephen K W ^b   Tong, Tony M F ^c   Lo, Ivan F M ^c   Lam, Stephen T S ^c   Mok, Vincent C T ^b   Wong, Lawrence K S ^b   Ngo, Jacky C K ^a   Lau, Kwok Fai ^a   Chan, Ting Fung ^a   Edwin Chan, H Y ^a  

^a CHINESE UNIVERSITY OF HONG KONG   (Hong Kong)

^b and Hong Kong Branch of CAS Center for Excellence in Animal Evolution and Genetics   (Hong Kong)

^c DEPARTMENT OF HEALTH   (Hong Kong)

Author keywords

[No Author keywords available]

Indexed keywords

CASPASE 3; STRESS ACTIVATED PROTEIN KINASE; ACTIN BINDING PROTEIN; CCDC88C PROTEIN, HUMAN; SIGNAL PEPTIDE;

AGED; APOPTOSIS; ARTICLE; ATAXIC GAIT; AUTOSOMAL DOMINANT DISORDER; BRAIN SIZE; CASE REPORT; CELLULAR DISTRIBUTION; COILED COIL DOMAIN CONTAINING 88C GENE; CONTROLLED STUDY; DYSARTHRIA; DYSMETRIA; EXOME; FEMALE; GENE; GENETIC CODE; GENETIC LINKAGE; HUMAN; HUMAN CELL; MISSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PROTEIN PHOSPHORYLATION; SCANNING SPEECH; SINGLE NUCLEOTIDE POLYMORPHISM; SPASTIC PARAPLEGIA; SPEECH; SPINOCEREBELLAR DEGENERATION; TREMOR; UNSTEADY GAIT; UNTRANSLATED REGION; AMINO ACID SEQUENCE; BRAIN; DNA MUTATIONAL ANALYSIS; GENETICS; HONG KONG; MIDDLE AGED; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PEDIGREE; PHYSIOLOGY; RADIOGRAPHY; SIGNAL TRANSDUCTION;

AMINO ACID SEQUENCE; BASE SEQUENCE; BRAIN; DNA MUTATIONAL ANALYSIS; EXOME; HONG KONG; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MAGNETIC RESONANCE IMAGING; MAP KINASE SIGNALING SYSTEM; MICROFILAMENT PROTEINS; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; SPINOCEREBELLAR ATAXIAS;

EID: 84907102582     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2014-102333     Document Type: Article

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