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Titolo:
Phenotypes of X-linked Charcot-Marie-Tooth disease and altered traffickingof mutant Connexin 32 (GJB1)
Autore:
Matsuyama, W; Nakagawa, M; Moritoyo, T; Takashima, H; Umehara, F; Hirata, K; Suehara, M; Osame, M;
Indirizzi:
Kagoshima Univ, Fac Med, Dept Internal Med 3, Kagoshima 8908520, Japan Kagoshima Univ Kagoshima Japan 8908520 l Med 3, Kagoshima 8908520, Japan Kagoshima Univ, Fac Med, Dept Physiol 1, Kagoshima 8908520, Japan Kagoshima Univ Kagoshima Japan 8908520 ysiol 1, Kagoshima 8908520, Japan Natl Sanatorium Okinawa Hosp, Dept Neurol, Okinawa, Japan Natl Sanatorium Okinawa Hosp Okinawa Japan Dept Neurol, Okinawa, Japan
Titolo Testata:
JOURNAL OF HUMAN GENETICS
fascicolo: 6, volume: 46, anno: 2001,
pagine: 307 - 313
SICI:
1434-5161(2001)46:6<307:POXCDA>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
GENE-MUTATIONS; NEUROPATHY; CMTX1; PROTEIN;
Keywords:
Connexin 32; CMTX; hearing impairment; onion-bulb formation; PC12; expression study;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
31
Recensione:
Indirizzi per estratti:
Indirizzo: Nakagawa, M Kagoshima Univ, Fac Med, Dept Internal Med 3, 8-35-1 Sakuragaoka, Kagoshima 8908520, Japan Kagoshima Univ 8-35-1 Sakuragaoka Kagoshima Japan 8908520 pan
Citazione:
W. Matsuyama et al., "Phenotypes of X-linked Charcot-Marie-Tooth disease and altered traffickingof mutant Connexin 32 (GJB1)", J HUM GENET, 46(6), 2001, pp. 307-313

Abstract

To clarify the pathomechanism in three patients with X-linked Charcot-Marie-Tooth disease (CMTX) and unique clinical features, we studied three connexin (Cx) 32 (GJB1) mutants with respect to cellular localization in cultured cells. Wild-type Cx32 and three Cx32 mutants (Va163Ile and Glu186Lys, obtained from CMTX patients with hearing impairment; and Arg22Gln, obtained from a CMTX patient with a fair number of onion-bulb formations) were transfected to rat pheochromocytoma cells (PC12). We investigated the expression of Cx32 protein in each clone by immunoblotting and immunohistochemical staining. While Cx32 protein with the Arg22Gln mutation was detectable immunohistochemically, only in the cytoplasm, Cx32 protein with the Va163Ile or Glu186Lys mutation was detected in both the plasma membrane and the cytoplasm. Cx32 protein with the wild-type sequence was detected mostly in the plasmamembrane, with plaques indicating the existence of active gap junction formation. These three Cx32 mutations associated with CMTX patients with unique clinical and pathological findings caused altered trafficking of the Cx32protein. These altered expressions indicated loss of active gap junction formation with different expression abnormalities in these CMTX patients.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/07/20 alle ore 08:55:27