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Titolo:
Ultrastructural protein zero expression in Charcot-Marie-Tooth type 1B disease
Autore:
Sindou, P; Vallat, JM; Chapon, F; Archelos, JJ; Tabaraud, F; Anani, T; Braund, KG; Maisonobe, T; Hauw, JJ; Vandenberghe, A;
Indirizzi:
Univ Hosp, Dept Neurol, F-87042 Limoges, France Univ Hosp Limoges FranceF-87042 p, Dept Neurol, F-87042 Limoges, France Univ Hosp, Dept Neurol, Caen, France Univ Hosp Caen FranceUniv Hosp, Dept Neurol, Caen, France Univ Wurzburg, Dept Neurol, Wurzburg, Germany Univ Wurzburg Wurzburg Germany Wurzburg, Dept Neurol, Wurzburg, Germany Univ Wurzburg, Multiple Sclerosis Res Grp, Wurzburg, Germany Univ Wurzburg Wurzburg Germany ple Sclerosis Res Grp, Wurzburg, Germany Scott Ritchey Res Ctr, Coll Vet Med, Auburn, AL USA Scott Ritchey Res CtrAuburn AL USA es Ctr, Coll Vet Med, Auburn, AL USA Grp Hosp Pitie Salpetriere, F-75634 Paris, France Grp Hosp Pitie Salpetriere Paris France F-75634 e, F-75634 Paris, France Univ Lyon 1, Dept Mol Neurogenet, F-69365 Lyon, France Univ Lyon 1 Lyon France F-69365 ept Mol Neurogenet, F-69365 Lyon, France
Titolo Testata:
MUSCLE & NERVE
fascicolo: 1, volume: 22, anno: 1999,
pagine: 99 - 104
SICI:
0148-639X(199901)22:1<99:UPZEIC>2.0.ZU;2-V
Fonte:
ISI
Lingua:
ENG
Soggetto:
MAJOR STRUCTURAL PROTEIN; HUMAN PERIPHERAL MYELIN; HEREDITARY MOTOR; DEMYELINATING NEUROPATHIES; EXTRACELLULAR DOMAIN; SENSORY NEUROPATHIES; DEJERINE-SOTTAS; P-0 MUTATIONS; GENE; PO;
Keywords:
Charcot-Marie-Tooth disease 1B; immunocytochemical quantification; protein zero; ultracryomicrotomy;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
35
Recensione:
Indirizzi per estratti:
Indirizzo: Vallat, JM Univ Hosp, Dept Neurol, 2 Ave Martin Luther King, F-87042 Limoges, France Univ Hosp 2 Ave Martin Luther King Limoges France F-87042 ance
Citazione:
P. Sindou et al., "Ultrastructural protein zero expression in Charcot-Marie-Tooth type 1B disease", MUSCLE NERV, 22(1), 1999, pp. 99-104

Abstract

Charcot-Marie-Tooth type 1B (CMT 1B) disease, an inherited demyelinating peripheral neuropathy, results from different point mutations located in thePO gene on chromosome 1 q21-23, We have quantified, at the ultrastructurallevel, the immunocytochemical expression of the PO protein in two unrelated CMT 1B patients with mutations (Ser 78 to Leu and Asn 122 to Ser) locatedin two different exons in the extracellular domain of the protein. A twofold decrease in PO expression was observed in compact myelin in each case, compared with age-matched controls. The severity of the phenotypes showed nodirect relationship to the levels of PO protein expression in these 2 patients. (C) 1999 John Wiley & Sons, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 28/11/20 alle ore 03:24:19