MOLECULAR DEFECTS IN CYTOCHROME-OXIDASE IN MITOCHONDRIAL DISEASES

被引：42

作者：

DIMAURO, S

ZEVIANI, M

RIZZUTO, R

LOMBES, A

NAKASE, H

BONILLA, E

MIRANDA, A

SCHON, E

机构：

来源：

JOURNAL OF BIOENERGETICS AND BIOMEMBRANES | 1988年 / 20卷 / 03期

关键词：

D O I：

10.1007/BF00769637

中图分类号：

Q6 [生物物理学];

学科分类号：

071011 ;

摘要：

引用

页码：353 / 364

页数：12

共 48 条

[1] SEQUENCE AND ORGANIZATION OF THE HUMAN MITOCHONDRIAL GENOME [J].

ANDERSON, S ;

BANKIER, AT ;

BARRELL, BG ;

DEBRUIJN, MHL ;

COULSON, AR ;

DROUIN, J ;

EPERON, IC ;

NIERLICH, DP ;

ROE, BA ;

SANGER, F ;

SCHREIER, PH ;

SMITH, AJH ;

STADEN, R ;

YOUNG, IG .

NATURE, 1981, 290 (5806) :457-465

[2]

BACHMAN NJ, 1987, IN PRESS GENE, V55

[3] CONCEPTS OF ABSENCE EPILEPSIES - DISCRETE SYNDROMES OR BIOLOGICAL CONTINUUM [J].

BERKOVIC, SF ;

ANDERMANN, F ;

ANDERMANN, E ;

GLOOR, P .

NEUROLOGY, 1987, 37 (06) :993-1000

[4] MITOCHONDRIAL CYTOCHROME DEFICIENCY PRESENTING AS A MYOPATHY WITH HYPOTONIA, EXTERNAL OPHTHALMOPLEGIA, AND LACTIC-ACIDOSIS IN AN INFANT AND AS FATAL HEPATOPATHY IN A 2ND COUSIN [J].

BOUSTANY, RN ;

APRILLE, JR ;

HALPERIN, J ;

LEVY, H ;

DELONG, GR .

ANNALS OF NEUROLOGY, 1983, 14 (04) :462-470

[5] FATAL INFANTILE CYTOCHROME-C OXIDASE DEFICIENCY - DECREASE OF IMMUNOLOGICALLY DETECTABLE ENZYME IN MUSCLE [J].

BRESOLIN, N ;

ZEVIANI, M ;

BONILLA, E ;

MILLER, RH ;

LEECH, RW ;

SHANSKE, S ;

NAKAGAWA, M ;

DIMAURO, S .

NEUROLOGY, 1985, 35 (06) :802-812

[6] PARTIAL CYTOCHROME-OXIDASE (AA3) DEFICIENCY IN CHRONIC PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA - HISTOCHEMICAL AND BIOCHEMICAL-STUDIES [J].

BYRNE, E ;

DENNETT, X ;

TROUNCE, I ;

HENDERSON, R .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1985, 71 (2-3) :257-271

[7] STRUCTURE OF CYTOCHROME-C OXIDASE [J].

CAPALDI, RA ;

MALATESTA, F ;

DARLEYUSMAR, VM .

BIOCHIMICA ET BIOPHYSICA ACTA, 1983, 726 (02) :135-148

[8] DEFICIENCY IN UBIQUINONE CYTOCHROME-C REDUCTASE IN A PATIENT WITH MITOCHONDRIAL MYOPATHY AND LACTIC-ACIDOSIS [J].

DARLEYUSMAR, VM ;

KENNAWAY, NG ;

BUIST, NRM ;

CAPALDI, RA .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1983, 80 (16) :5103-5106

[9] MITOCHONDRIAL MYOPATHIES [J].

DIMAURO, S ;

BONILLA, E ;

ZEVIANI, M ;

SERVIDEI, S ;

DEVIVO, DC ;

SCHON, EA .

JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 :113-128

[10] FATAL INFANTILE MITOCHONDRIAL MYOPATHY AND RENAL DYSFUNCTION DUE TO CYTOCHROME-C-OXIDASE DEFICIENCY [J].

DIMAURO, S ;

MENDELL, JR ;

SAHENK, Z ;

BACHMAN, D ;

SCARPA, A ;

SCOFIELD, RM ;

REINER, C .

NEUROLOGY, 1980, 30 (08) :795-804

← 1 2 3 4 5 →