学术探索
学术期刊
新闻热点
数据分析
智能评审

Mitochondrial genetics and disease

被引：144
作者：
Schon, EA
机构：
[1] Columbia Univ, Dept Neurol, New York, NY 10032 USA
[2] Columbia Univ, Dept Genet & Dev, New York, NY 10032 USA
来源：
TRENDS IN BIOCHEMICAL SCIENCES | 2000年 / 25卷 / 11期
关键词：
D O I：
10.1016/S0968-0004(00)01688-1
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Mitochondrial respiratory chain diseases are a highly diverse group of disorders whose main unifying characteristic is the impairment of mitochondrial function. As befits an organelle containing gene products encoded by both mitochondrial DNA (mtDNA) and nuclear DNA (nDNA), these diseases can be caused by inherited errors in either genome, but a surprising number are sporadic, and a few are even caused by environmental factors.
引用
收藏
页码：555 / 560
页数：6
相关论文
共 32 条
  • [1] Localized firefly luciferase probes ATP at the surface of mitochondria
    Aflalo, C
    [J]. JOURNAL OF BIOENERGETICS AND BIOMEMBRANES, 1997, 29 (06) : 549 - 559
  • [2] 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
  • [3] Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma
    Baysal, BE
    Ferrell, RE
    Willett-Brozick, JE
    Lawrence, EC
    Myssiorek, D
    Bosch, A
    van der Mey, A
    Taschner, PEM
    Rubinstein, WS
    Myers, EN
    Richard, CW
    Cornelisse, CJ
    Devilee, P
    Devlin, B
    [J]. SCIENCE, 2000, 287 (5454) : 848 - 851
  • [4] Mitochondria and skin disease
    Birch-Machin, MA
    [J]. CLINICAL AND EXPERIMENTAL DERMATOLOGY, 2000, 25 (02) : 141 - 146
  • [5] A calcium signaling defect in the pathogenesis of a mitochondrial DNA inherited oxidative phosphorylation deficiency
    Brini, M
    Pinton, P
    King, MP
    Davidson, M
    Schon, EA
    Rizzuto, R
    [J]. NATURE MEDICINE, 1999, 5 (08) : 951 - 954
  • [6] Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy
    Chalmers, RM
    Schapira, AHV
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS, 1999, 1410 (02): : 147 - 158
  • [7] DiMauro S, 2000, BRAIN PATHOL, V10, P431
  • [8] ERICKSONVIITANEN S, 1982, J BIOL CHEM, V257, P4395
  • [9] Fischel-Ghodsian N, 1999, HUM MUTAT, V13, P261, DOI 10.1002/(SICI)1098-1004(1999)13:4<261::AID-HUMU1>3.0.CO
  • [10] 2-W
1234