Getting to the nucleus of mitochondrial disorders: Identification of respiratory chain-enzyme genes causing Leigh syndrome

被引：74

作者：

Dahl, HHM ^{[1
]}

机构：

[1] Royal Childrens Hosp, Murdoch Inst, Parkville, Vic 3052, Australia

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 1998年 / 63卷 / 06期

关键词：

D O I：

10.1086/302169

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1594 / 1597

页数：4

共 19 条

[1] Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome
Adams, PL
Lightowlers, RN
Turnbull, DM
[J]. ANNALS OF NEUROLOGY, 1997, 41 (02) : 268 - 270
[2] MUTATION OF A NUCLEAR SUCCINATE-DEHYDROGENASE GENE RESULTS IN MITOCHONDRIAL RESPIRATORY-CHAIN DEFICIENCY
BOURGERON, T
RUSTIN, P
CHRETIEN, D
BIRCHMACHIN, M
BOURGEOIS, M
VIEGASPEQUIGNOT, E
MUNNICH, A
ROTIG, A
[J]. NATURE GENETICS, 1995, 11 (02) : 144 - 149
[3] Complementation analysis of systemic cytochrome oxidase deficiency presenting as Leigh syndrome
Brown, RM
Brown, GK
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 1996, 19 (06) : 752 - 760
[4] Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion
Campuzano, V
Montermini, L
Molto, MD
Pianese, L
Cossee, M
Cavalcanti, F
Monros, E
Rodius, F
Duclos, F
Monticelli, A
Zara, F
Canizares, J
Koutnikova, H
Bidichandani, SI
Gellera, C
Brice, A
Trouillas, P
DeMichele, G
Filla, A
DeFrutos, R
Palau, F
Patel, PI
DiDonato, S
Mandel, JL
Cocozza, S
Koenig, M
Pandolfo, M
[J]. SCIENCE, 1996, 271 (5254) : 1423 - 1427
[5] Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease
Casari, G
De Fusco, M
Ciarmatori, S
Zeviani, M
Mora, M
Fernandez, P
De Michele, G
Filla, A
Cocozza, S
Marconi, R
Dürr, A
Fontaine, B
Ballabio, A
[J]. CELL, 1998, 93 (06) : 973 - 983
[6] The NuoI subunit of the Rhodobacter capsulatus respiratory Complex I (equivalent to the bovine TYKY subunit) is required for proper assembly of the membraneous and peripheral domains of the enzyme
Chevallet, M
Dupuis, A
Lunardi, J
VanBelzen, R
Albracht, SPJ
Issartel, JP
[J]. EUROPEAN JOURNAL OF BIOCHEMISTRY, 1997, 250 (02): : 451 - 458
[7] DAHL HHM, 1995, AM J HUM GENET, V56, P553
[8] Genetic heterogeneity in Leigh syndrome
DiMauro, S
DeVivo, DC
[J]. ANNALS OF NEUROLOGY, 1996, 40 (01) : 5 - 7
[9] SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT
LEIGH, D
[J]. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1951, 14 (03) : 216 - 221
[10] The first nuclear-encoded complex I mutation in a patient with leigh syndrome
Loeffen, J
Smeitink, A
Triepels, R
Smeets, R
Schuelke, M
Sengers, R
Trijbels, F
Hamel, B
Mullaart, R
van den Heuvel, L
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 63 (06) : 1598 - 1608

← 1 2 →