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Titolo:
Autosomal-dominant Parkinson's disease linked to 2p13 is not caused by mutations in transforming growth factor alpha (TGF alpha)
Autore:
Zink, M; Grimm, L; Wszolek, ZK; Gasser, T;
Indirizzi:
Klinikum Grosshadern, Neurol Klin, D-81377 Munich, Germany Klinikum Grosshadern Munich Germany D-81377 lin, D-81377 Munich, Germany Univ Munich, Abt Med Genet, D-80539 Munich, Germany Univ Munich Munich Germany D-80539 bt Med Genet, D-80539 Munich, Germany Mayo Clin Jacksonville, Dept Neurol, Jacksonville, FL 32224 USA Mayo Clin Jacksonville Jacksonville FL USA 32224 cksonville, FL 32224 USA
Titolo Testata:
JOURNAL OF NEURAL TRANSMISSION
fascicolo: 8-9, volume: 108, anno: 2001,
pagine: 1029 - 1034
SICI:
0300-9564(2001)108:8-9<1029:APDLT2>2.0.ZU;2-Z
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECESSIVE JUVENILE PARKINSONISM; MIDBRAIN DOPAMINERGIC-NEURONS; GENE; EXPRESSION; BRAIN;
Keywords:
transforming growth factor alpha; Parkinson's disease; autosomal dominant; neurogenetics; exon intron boundaries;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
20
Recensione:
Indirizzi per estratti:
Indirizzo: Gasser, T Klinikum Grosshadern, Neurol Klin, Marchioninistr 15, D-81377 Munich, Germany Klinikum Grosshadern Marchioninistr 15 Munich Germany D-81377 y
Citazione:
M. Zink et al., "Autosomal-dominant Parkinson's disease linked to 2p13 is not caused by mutations in transforming growth factor alpha (TGF alpha)", J NEURAL TR, 108(8-9), 2001, pp. 1029-1034

Abstract

A susceptibility gene for Parkinson's disease (PD) with late onset and typical Lewy-body pathology maps to chromosome 2p13 (PARK3). In the present study we examined the gene for transforming growth factor alpha (TGF alpha), which is located in the PARK3-region, as a potential candidate gene. This polypeptide mitogen exerts trophic actions on dopaminergic neurons and TGF alpha-deficient mice have fewer dopaminergic neurons. We did not find mutations in the exonic or exon-flanking intronic sequences of index patients of two families linked to 2p13. This result excludes mutations in the coding region of TGF alpha as a cause for hereditary PD, butdoes not rule out a possible role of sequence variants in regulatory regions or splice sites.

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Documento generato il 20/06/19 alle ore 17:22:40