Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy

Nature Genetics

Volumn 32, Issue 2, 2002, Pages 267-272

  Takashima, Hiroshi ^a   Boerkoel, Cornelius F ^a   John, Joy ^a   Saifi, Gulam Mustafa ^a   Salih, Mustafa A M ^b   Armstrong, Dawna ^c   Mao, Yuxin ^a   Quiocho, Florante A ^a   Roa, Benjamin B ^a   Nakagawa, Masanori ^d   Stockton, David W ^a   Lupski, James R ^a,c  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b Sheikh Bahamdan Research Chair of Evidence based Healthcare and Knowledge Translation   (Saudi Arabia)

^c TEXAS CHILDREN S HOSPITAL   (United States)

^d KAGOSHIMA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DNA TOPOISOMERASE; HISTIDINE;

ADULT; AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CASE REPORT; DNA DAMAGE; DNA REPAIR; DNA REPLICATION; DNA STRAND BREAKAGE; ENZYME ACTIVE SITE; FEMALE; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; GENETIC TRANSCRIPTION; HUMAN; MALE; NEUROPATHY; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION; YEAST;

ADULT; BINDING SITES; CEREBELLUM; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 14; CRYSTALLOGRAPHY, X-RAY; DNA REPAIR; FEMALE; HUMANS; MALE; MIDDLE AGED; PEDIGREE; PHOSPHORIC DIESTER HYDROLASES; PROTEIN STRUCTURE, TERTIARY; SPINOCEREBELLAR ATAXIAS; SURAL NERVE;

ATAXIA;

EID: 18644386254     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng987     Document Type: Article

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