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Titolo:
The SOX10 transcription factor: evaluation as a candidate gene for centraland peripheral hereditary myelin disorders
Autore:
Pingault, V; Bondurand, N; Le Caignec, C; Tardieu, S; Lemort, N; Dubourg, O; Le Guern, E; Goossens, M; Boespflug-Tanguy, O;
Indirizzi:
INSERM, U468, F-94010 Creteil, France INSERM Creteil France F-94010INSERM, U468, F-94010 Creteil, France Hop Henri Mondor, AP HP, Lab Biochim & Genet Mol, F-94010 Creteil, France Hop Henri Mondor Creteil France F-94010 net Mol, F-94010 Creteil, France Hop La Pitie Salpetriere, INSERM, U289, Paris, France Hop La Pitie Salpetriere Paris France iere, INSERM, U289, Paris, France Fac Med, INSERM, U384, Clermont Ferrand, France Fac Med Clermont FerrandFrance INSERM, U384, Clermont Ferrand, France
Titolo Testata:
JOURNAL OF NEUROLOGY
fascicolo: 6, volume: 248, anno: 2001,
pagine: 496 - 499
SICI:
0340-5354(200106)248:6<496:TSTFEA>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
PELIZAEUS-MERZBACHER-DISEASE; MUTATIONS; HYPOMYELINATION; EXPRESSION; CELLS;
Keywords:
SOX10; myelin disorders; Charcot-Marie-Tooth disease; Pelizaeus-Merzbacher disease; leukodystrophy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
16
Recensione:
Indirizzi per estratti:
Indirizzo: Pingault, V INSERM, U468, F-94010 Creteil, France INSERM Creteil France F-94010 U468, F-94010 Creteil, France
Citazione:
V. Pingault et al., "The SOX10 transcription factor: evaluation as a candidate gene for centraland peripheral hereditary myelin disorders", J NEUROL, 248(6), 2001, pp. 496-499

Abstract

The SOX1O transcription factor is involved in development of neural crest derivatives and fate determination in glial cells. SOX10 mutations have been found in patients with intestinal aganglionosis and depigmentation with deafness (Waardenburg-Hirschsprung). Associated neurological signs have beenreported in some cases, including a patient exhibiting a central and peripheral myelin deficiency. Therefore, we screened for SOX10 mutations in a large cohort of patients with peripheral and central myelin disorders. 56 were affected by classical demyelinating Charcot-Marie-Tooth disease without identified mutations in the genes encoding PNS myelin proteins (PMP22, PO), connexin 32 and the zinc-finger transcription factor, EGR2. 88 patients with undetermined leukodystrophy were selected from a large European prospective study. Associated clinical, magnetic resonance imaging and electrophysiological signs were consistent with a defect in CNS myelination in 83 and with an active degeneration of the CNS myelin in 5. No abnormalities in the proteolipid protein gene (PLP) were found. The absence of SOX10 mutation in this large cohort of patients suggests that this gene is not frequently involved in peripheral or central inherited myelin disorders.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 25/09/20 alle ore 06:27:22