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Titolo:
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is causedby mutations in a new HIT superfamily gene
Autore:
Date, H; Onodera, O; Tanaka, H; Iwabuchi, K; Uekawa, K; Igarashi, S; Koike, R; Hiroi, T; Yuasa, T; Awaya, Y; Sakai, T; Takahashi, T; Nagatomo, H; Sekijima, Y; Kawachi, I; Takiyama, Y; Nishizawa, M; Fukuhara, N; Saito, K; Sugano, S; Tsuji, S;
Indirizzi:
Niigata Univ, Brain Res Inst, Dept Neurol, Niigata 951, Japan Niigata Univ Niigata Japan 951 Res Inst, Dept Neurol, Niigata 951, Japan Kanagawa Rehabil Ctr, Dept Neurol & Psychiat, Kanagawa, Japan Kanagawa Rehabil Ctr Kanagawa Japan Neurol & Psychiat, Kanagawa, Japan Natl Kumamoto Minami Hosp, Dept Neurol, Kumamoto, Japan Natl Kumamoto Minami Hosp Kumamoto Japan , Dept Neurol, Kumamoto, Japan Hosoki Hosp, Kouchi, Japan Hosoki Hosp Kouchi JapanHosoki Hosp, Kouchi, Japan Kohnodai Hosp, Natl Ctr Neurol & Psychiat, Dept Neurol, Tokyo, Japan Kohnodai Hosp Tokyo Japan Neurol & Psychiat, Dept Neurol, Tokyo, Japan Seibo Hosp, Dept Pediat, Tokyo, Japan Seibo Hosp Tokyo JapanSeibo Hosp, Dept Pediat, Tokyo, Japan Natl Chikugo Hosp, Fukuoka, Japan Natl Chikugo Hosp Fukuoka JapanNatl Chikugo Hosp, Fukuoka, Japan Yokohama City Univ, Med Ctr, Dept Psychiat, Kanagawa, Japan Yokohama City Univ Kanagawa Japan d Ctr, Dept Psychiat, Kanagawa, Japan Shinshu Univ, Sch Med, Dept Med 3, Nagano, Japan Shinshu Univ Nagano Japan nshu Univ, Sch Med, Dept Med 3, Nagano, Japan Jichi Med Sch, Dept Neurol, Minami Kawachi, Tochigi 32904, Japan Jichi MedSch Minami Kawachi Tochigi Japan 32904 hi, Tochigi 32904, Japan Natl Saigata Hosp, Dept Neurol, Niigata, Japan Natl Saigata Hosp NiigataJapan igata Hosp, Dept Neurol, Niigata, Japan Tokyo Womens Med Univ, Sch Med, Dept Pediat, Tokyo, Japan Tokyo Womens MedUniv Tokyo Japan v, Sch Med, Dept Pediat, Tokyo, Japan Univ Tokyo, Inst Med Sci, Dept Virol, Tokyo, Japan Univ Tokyo Tokyo Japan iv Tokyo, Inst Med Sci, Dept Virol, Tokyo, Japan
Titolo Testata:
NATURE GENETICS
fascicolo: 2, volume: 29, anno: 2001,
pagine: 184 - 188
SICI:
1061-4036(200110)29:2<184:EAWOMA>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
CEREBELLAR ATROPHY HMSNCA; HEREDITARY MOTOR; LINKAGE ANALYSIS; PROTEINS; FEATURES; FAMILY;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
28
Recensione:
Indirizzi per estratti:
Indirizzo: Tsuji, S Niigata Univ, Brain Res Inst, Dept Neurol, 1 Asahimachi, Niigata 951, Japan Niigata Univ 1 Asahimachi Niigata Japan 951 , Niigata 951, Japan
Citazione:
H. Date et al., "Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is causedby mutations in a new HIT superfamily gene", NAT GENET, 29(2), 2001, pp. 184-188

Abstract

Friedreich ataxia (FRDA), the most common autosomal recessive neurodegenerative disease among Europeans and people of European descent, is characterized by an early onset (usually before the age of 25), progressive ataxia, sensory loss, absence of tendon reflexes and pyramidal weakness of the legs(1-4). We have recently identified a unique group of patients whose clinicalpresentations are characterized by autosomal recessive inheritance, early age of onset, FRDA-like clinical presentations and hypoalbuminemia. Linkageto the FRDA locus, however, was excluded. Given the similarities of the clinical presentations to those of the recently described ataxia with oculomotor apraxia (AOA) linked to chromosome 9p13, we confirmed that the disorderof our patients is also linked to the same locus(5). We narrowed the candidate region and have identified a new gene encoding a member of the histidine triad (HIT) superfamily as the 'causative' gene. We have called its product aprataxin; the gene symbol is APTX. Although many HIT proteins have been identified, aprataxin is the first to be linked to a distinct phenotype.

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Documento generato il 10/07/20 alle ore 03:16:40