OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract -: art. no. e110

被引：122

作者：

Reynier, P

Amati-Bonneau, P

Verny, C

Olichon, A

Simard, G

Guichet, A

Bonnemains, C

Malecaze, F

Malinge, MC

Pelletier, JB

Calvas, P

Dollfus, H

Belenguer, P

Malthièry, Y

Lenaers, G

Bonneau, D

机构：

[1] CHU Angers, Serv Genet Med, F-49033 Angers 01, France

[2] CHU Angers, INSERM, E0018, F-49033 Angers 01, France

[3] CHU Angers, Lab Biochim & Biol Mol, F-49033 Angers 01, France

[4] CHU Angers, Dept Neurol, F-49033 Angers 01, France

[5] Univ Toulouse 3, CNRS, UMR 5088, Lab Biol Cellulaire & Mol Controle Proliferat, F-31062 Toulouse, France

[6] CHU, INSERM, U563, Toulouse, France

[7] CHU, Serv Ophthalmol, Toulouse, France

[8] CHU, Serv Genet Med, Toulouse, France

[9] CHU Strasbourg, Serv Genet Med, F-67000 Strasbourg, France

来源：

JOURNAL OF MEDICAL GENETICS | 2004年 / 41卷 / 09期

关键词：

D O I：

10.1136/jmg.2003.016576

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页数：6

共 27 条

[1] OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28 [J].

Alexander, C ;

Votruba, M ;

Pesch, UEA ;

Thiselton, DL ;

Mayer, S ;

Moore, A ;

Rodriguez, M ;

Kellner, U ;

Leo-Kottler, B ;

Auburger, G ;

Bhattacharya, SS ;

Wissinger, B .

NATURE GENETICS, 2000, 26 (02) :211-215

[2] The association of autosomal dominant optic atrophy and moderate deafness may be due to the R445H mutation in the OPA1 gene [J].

Amati-Bonneau, P ;

Odent, S ;

Derrien, C ;

Pasquier, L ;

Malthiéry, Y ;

Reynier, P ;

Bonneau, D .

AMERICAN JOURNAL OF OPHTHALMOLOGY, 2003, 136 (06) :1170-1171

[3] Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome):: Identification of the OPA3 gene and its founder mutation in Iraqi Jews [J].

Anikster, Y ;

Kleta, R ;

Shaag, A ;

Gahl, WA ;

Elpeleg, O .

AMERICAN JOURNAL OF HUMAN GENETICS, 2001, 69 (06) :1218-1224

[4] A gene for X-linked optic atrophy is closely linked to the Xp11.4-Xp11.2 region of the X chromosome [J].

Assink, JJM ;

Tijmes, NT ;

tenBrink, JB ;

Oostra, RJ ;

Riemslag, FC ;

deJong, PTVM ;

Bergen, AAB .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (04) :934-939

[5] A first locus for isolated autosomal recessive optic atrophy (ROA1) maps to chromosome 8q [J].

Barbet, F ;

Gerber, S ;

Hakiki, S ;

Perrault, I ;

Hanein, S ;

Ducroq, D ;

Tanguy, G ;

Dufier, JL ;

Munnich, A ;

Rozet, JM ;

Kaplan, J .

EUROPEAN JOURNAL OF HUMAN GENETICS, 2003, 11 (12) :966-971

[6]

Baris Olivier, 2003, Hum Mutat, V21, P656, DOI 10.1002/humu.9152

[7] Rotenone inhibits the mitochondrial permeability transition-induced cell death in U937 and KB cells [J].

Chauvin, C ;

De Oliveira, F ;

Ronot, X ;

Mousseau, M ;

Leverve, X ;

Fontaine, E .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2001, 276 (44) :41394-41398

[8] A FAMILIAL SYNDROME OF INFANTILE OPTIC ATROPHY, MOVEMENT DISORDER, AND SPASTIC PARAPLEGIA [J].

COSTEFF, H ;

GADOTH, N ;

APTER, N ;

PRIALNIC, M ;

SAVIR, H .

NEUROLOGY, 1989, 39 (04) :595-597

[9] 3-METHYLGLUTACONIC ACIDURIA IN OPTIC ATROPHY PLUS [J].

COSTEFF, H ;

ELPELEG, O ;

APTER, N ;

DIVRY, P ;

GADOTH, N .

ANNALS OF NEUROLOGY, 1993, 33 (01) :103-104

[10] Proteomic analysis of the mouse liver mitochondrial inner membrane [J].

Da Cruz, S ;

Xenarios, I ;

Langridge, J ;

Vilbois, F ;

Parone, PA ;

Martinou, JC .

JOURNAL OF BIOLOGICAL CHEMISTRY, 2003, 278 (42) :41566-41571

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