BIOCHEMICAL AND MOLECULAR ANALYSIS OF CYTOCHROME-C-OXIDASE DEFICIENCY IN LEIGHS SYNDROME

被引:67
作者
LOMBES, A
NAKASE, H
TRITSCHLER, HJ
KADENBACH, B
BONILLA, E
DEVIVO, DC
SCHON, EA
DIMAURO, S
机构
[1] COLUMBIA UNIV COLL PHYS & SURG,DEPT NEUROL,NEW YORK,NY 10032
[2] COLUMBIA UNIV COLL PHYS & SURG,DEPT GENET & DEV,NEW YORK,NY 10032
[3] UNIV MARBURG,DEPT BIOCHEM,W-3550 MARBURG,GERMANY
关键词
D O I
10.1212/WNL.41.4.491
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:491 / 498
页数:8
相关论文
共 57 条
  • [1] SEQUENCE AND ORGANIZATION OF THE HUMAN MITOCHONDRIAL GENOME
    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
    [J]. NATURE, 1981, 290 (5806) : 457 - 465
  • [2] CYTOCHROME-C-OXIDASE DEFICIENCY IN SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY
    ARTS, WFM
    SCHOLTE, HR
    LOONEN, MCB
    PRZYREMBEL, H
    FERNANDES, J
    TRIJBELS, JMF
    LUYTHOUWEN, IEM
    [J]. JOURNAL OF THE NEUROLOGICAL SCIENCES, 1987, 77 (01) : 103 - 115
  • [3] IMMUNOCYTOCHEMICAL STUDY OF NEBULIN IN DUCHENNE MUSCULAR-DYSTROPHY
    BONILLA, E
    MIRANDA, AF
    PRELLE, A
    SALVIATI, G
    BETTO, R
    ZEVIANI, M
    SCHON, EA
    DIMAURO, S
    ROWLAND, LP
    [J]. NEUROLOGY, 1988, 38 (10) : 1600 - 1603
  • [4] APPLICATION OF NILE BLUE AND NILE RED, 2 FLUORESCENT-PROBES, FOR DETECTION OF LIPID DROPLETS IN HUMAN SKELETAL-MUSCLE
    BONILLA, E
    PRELLE, A
    [J]. JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY, 1987, 35 (05) : 619 - 621
  • [5] MEASUREMENT OF CYTOCHROMES IN HUMAN SKELETAL-MUSCLE MITOCHONDRIA, ISOLATED FROM FRESH AND FROZEN STORED MUSCLE SPECIMENS
    BOOKELMAN, H
    TRIJBELS, JMF
    SENGERS, RCA
    JANSSEN, AJM
    [J]. BIOCHEMICAL MEDICINE, 1978, 19 (03): : 366 - 373
  • [6] FATAL INFANTILE CYTOCHROME-C OXIDASE DEFICIENCY - DECREASE OF IMMUNOLOGICALLY DETECTABLE ENZYME IN MUSCLE
    BRESOLIN, N
    ZEVIANI, M
    BONILLA, E
    MILLER, RH
    LEECH, RW
    SHANSKE, S
    NAKAGAWA, M
    DIMAURO, S
    [J]. NEUROLOGY, 1985, 35 (06) : 802 - 812
  • [7] STRUCTURE OF CYTOCHROME-C OXIDASE
    CAPALDI, RA
    MALATESTA, F
    DARLEYUSMAR, VM
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1983, 726 (02) : 135 - 148
  • [8] GENOMIC SEQUENCING
    CHURCH, GM
    GILBERT, W
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1984, 81 (07): : 1991 - 1995
  • [9] DAVIS LG, 1986, BASIC METHODS MOL BI, P47
  • [10] CYTOCHROME-C-OXIDASE DEFICIENCY IN LEIGH SYNDROME
    DIMAURO, S
    SERVIDEI, S
    ZEVIANI, M
    DIROCCO, M
    DEVIVO, DC
    DIDONATO, S
    UZIEL, G
    BERRY, K
    HOGANSON, G
    JOHNSEN, SD
    JOHNSON, PC
    [J]. ANNALS OF NEUROLOGY, 1987, 22 (04) : 498 - 506