Reversal of a mitochondrial DNA defect in human skeletal muscle

被引:116
作者
Clark, KM
Bindoff, LA
Lightowlers, RN
Andrew, RM
Griffiths, PG
Johnson, MA
Brierley, EJ
Turnbull, DM
机构
[1] UNIV NEWCASTLE UPON TYNE,SCH MED,DEPT OPHTHALMOL,NEWCASTLE TYNE NE2 4HH,TYNE & WEAR,ENGLAND
[2] MIDDLESBROUGH GEN HOSP,DEPT NEUROL,MIDDLESBROUGH,CLEVELAND,ENGLAND
关键词
D O I
10.1038/ng0797-222
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
[No abstract available]
引用
收藏
页码:222 / 224
页数:3
相关论文
共 18 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]  
ARGOV Z, 1994, DISORDERS VOLUNTARY, P989
[3]  
BENOIT PW, 1970, J ANAT, V107, P547
[4]   ISOLATION AND CHARACTERIZATION OF HUMAN-MUSCLE CELLS [J].
BLAU, HM ;
WEBSTER, C .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (09) :5623-5627
[5]  
BOULET L, 1992, AM J HUM GENET, V51, P1187
[6]  
CARLSON BM, 1992, OPHTHALMOLOGY, V99, P582
[7]   MELAS MUTATION IN MTDNA BINDING-SITE FOR TRANSCRIPTION TERMINATION FACTOR CAUSES DEFECTS IN PROTEIN-SYNTHESIS AND IN RESPIRATION BUT NO CHANGE IN LEVELS OF UPSTREAM AND DOWNSTREAM MATURE TRANSCRIPTS [J].
CHOMYN, A ;
MARTINUZZI, A ;
YONEDA, M ;
DAGA, A ;
HURKO, O ;
JOHNS, D ;
LAI, ST ;
NONAKA, I ;
ANGELINI, C ;
ATTARDI, G .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (10) :4221-4225
[8]   MITOCHONDRIAL ENCEPHALOMYOPATHIES [J].
DIMAURO, S ;
MORAES, CT .
ARCHIVES OF NEUROLOGY, 1993, 50 (11) :1197-1208
[9]   A novel heteroplasmic tRNA(leu(CUN)) mtDNA point mutation in a sporadic patient with mitochondrial encephalomyopathy segregates rapidly in skeletal muscle and suggests an approach to therapy [J].
Fu, K ;
Hartlen, R ;
Johns, T ;
Genge, A ;
Karpati, G ;
Shoubridge, EA .
HUMAN MOLECULAR GENETICS, 1996, 5 (11) :1835-1840
[10]  
GRAEGIORE M, 1984, EUR J BIOCHEM, V142, P49