The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin

Nature Genetics

Volumn 29, Issue 2, 2001, Pages 189-193

  Moreira, Maria Céu ^a,b   Barbot, Clara ^b,c   Tachi, Nobutada ^d   Kozuka, Naoki ^d   Uchida, Eiji ^d   Gibson, Toby ^e   Mendonça, Pedro ^f   Costa, Manuela ^g   Barros, José ^h   Yanagisawa, Takayuki ⁱ   Watanabe, Mitsunori ^j   Ikeda, Yoshio ^j   Aoki, Masashi ^k   Nagata, Tetsuya ^k   Coutinho, Paula ^b,l   Sequeiros, Jorge ^b   Koenig, Michel ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b UNIVERSITY OF PORTO   (Portugal)

^c HOSPITAL MARIA PIA   (Portugal)

^d SAPPORO MEDICAL UNIVERSITY   (Japan)

^e EUROPEAN MOLECULAR BIOLOGY LABORATORY   (Germany)

^f HOSPITAL DO DIVINO ESPÍRITO SANTO   (Portugal)

^g HOSPITAL PEDRO HISPANO   (Portugal)

^h HOSPITAL DE SANTO ANTÓNIO   (Portugal)

ⁱ National Hospital Organization   (Japan)

^j GUNMA UNIVERSITY   (Japan)

^k TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^l Hospital So Sebastio   (Portugal)

more..

Author keywords

[No Author keywords available]

Indexed keywords

APRATAXIN; UNCLASSIFIED DRUG; ZINC FINGER PROTEIN;

APRAXIA; ARTICLE; ATAXIA; CONTROLLED STUDY; GENE ISOLATION; GENE MUTATION; HUMAN; IONIZING RADIATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OCULAR APRAXIA; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION;

AMINO ACID SEQUENCE; APRAXIAS; ATAXIA; BASE SEQUENCE; DNA PRIMERS; DNA-BINDING PROTEINS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; OCULOMOTOR MUSCLES; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID; ZINC FINGERS;

ATAXIA; ATAXIA TELANGIECTASIA;

EID: 0034785531     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1001-189     Document Type: Article

References (26)

1. Ataxia-ocular motor apraxia: A syndrome mimicking ataxiatelangiectasia
2. A hereditary ataxia associated with hypoalbuminemia and hyperlipidemia - A variant form of Friedreich's disease or a new clinical entity?
3. Recessive ataxia with ocular apraxia: Review of 22 Portuguese patients
4. Homozygosity mapping of Portuguese and Japanese forms of ataxia-oculomotor apraxia to 9p13, and evidence for genetic heterogeneity
5. Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): A new disease
6. Siblings of early onset cerebellar ataxia with hypoalbuminemia
7. Familial early onset cerebellar ataxia with hypoalbuminemia
8. Hereditary motor and sensory neuropathy associated with cerebellar atrophy (HMSNCA): Clinical and neuropathological features of a Japanese family
9. Hereditary cerebellar ataxia with peripheral neuropathy and mental retardation
10. Recessive ataxias in Portugal
11. XRCC1 stimulates human polynucleotide kinase activity at damaged DNA termini and accelerates DNA single-strand break repair
12. Dinucleoside polyphosphatesfriend or foe?
13. Early onset ataxia with ocular-motor apraxia and hypoalbuminemia is caused by mutations in a new HIT-superfamily gene
14. Molecular cloning of the human gene, PNKP, encoding a polynucleotide kinase 3′-phosphatase and evidence for its role in repair of DNA strand breaks caused by oxidative damage
15. Molecular characterization of a human DNA kinase
16. The histidine triad superfamily of nucleotide-binding proteins
17. ADP-ribosylation of diadenosine 5′,5″-,P1,P4-tetraphosphate by poly(ADP-ribose) polymerase in vitro
18. XRCC1 polypeptide interacts with DNA polymerase beta and possibly poly (ADP-ribose) polymerase, and DNA ligase III is a novel molecular 'nick-sensor' in vitro
19. DNA ligase III is recruited to DNA strand breaks by a zinc finger motif homologous to that of poly(ADP-ribose) polymerase. Identification of two functionally distinct DNA binding regions within DNA ligase III
20. A model for the tertiary structure of the 28 residue DNA-binding motif ('zinc finger') common to many eukaryotic transcriptional regulatory proteins
21. Ataxia-telangiectasia: An interdisciplinary approach to pathogenesis
22. Strange bedfellows in even stranger places: The role of ATM in meiotic cells, lymphocytes, tumors, and its functional links to p53
23. DNA-PK, ATM and ATR as sensors of DNA damage: Variations on a theme?
24. The many substrates and functions of ATM
25. ATM and ATR: Networking cellular responses to DNA damage
26. SMART: A Web-based tool for the study of genetically mobile domains