The X-chromosomal NDUFA1 gene of complex I in mitochondrial encephalomyopathies: Tissue expression and mutation detection

被引：17

作者：

Loeffen, J

Smeets, R

Smeitink, J

Ruitenbeek, W

Janssen, A

Mariman, E

Sengers, R

Trijbels, F

van den Heuvel, L

机构：

[1] Univ Nijmegen Hosp, Dept Pediat, NL-6500 HB Nijmegen, Netherlands

[2] Univ Nijmegen Hosp, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1998年 / 21卷 / 03期

关键词：

D O I：

10.1023/A:1005339332062

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：210 / 215

页数：6

共 16 条

[1] CHROMOSOMAL LOCALIZATION OF THE HUMAN GENE ENCODING THE 51-KDA SUBUNIT OF MITOCHONDRIAL COMPLEX-I (NDUFV1) TO 11Q13 [J].

ALI, ST ;

DUNCAN, AMV ;

SCHAPPERT, K ;

HENG, HHQ ;

TSUI, LC ;

CHOW, W ;

ROBINSON, BH .

GENOMICS, 1993, 18 (02) :435-439

[2] Lethal infantile mitochondrial disease with isolated complex I deficiency in fibroblasts but with combined complex I and IV deficiencies in muscle [J].

Bentlage, HACM ;

Wendel, U ;

Schagger, H ;

terLaak, HJ ;

Janssen, AJM ;

Trijbels, JMF .

NEUROLOGY, 1996, 47 (01) :243-248

[3] MOLECULAR-CLONING AND CHARACTERIZATION OF THE ACTIVE HUMAN MITOCHONDRIAL NADH-UBIQUINONE OXIDOREDUCTASE 24-KDA GENE (NDUFV2) AND ITS PSEUDOGENE [J].

DECOO, R ;

BUDDIGER, P ;

SMEETS, H ;

VANKESSEL, AG ;

MORGANHUGHES, J ;

WEGHUIS, DO ;

OVERHAUSER, J ;

VANOOST, B .

GENOMICS, 1995, 26 (03) :461-466

[4] The human B22 subunit of the NADH-ubiquinone oxidoreductase maps to the region of chromosome 8 involved in branchio-oto-renal syndrome [J].

Gu, JZ ;

Lin, X ;

Wells, DE .

GENOMICS, 1996, 35 (01) :6-10

[5] THE MITOCHONDRIAL ELECTRON-TRANSPORT AND OXIDATIVE-PHOSPHORYLATION SYSTEM [J].

HATEFI, Y .

ANNUAL REVIEW OF BIOCHEMISTRY, 1985, 54 :1015-1069

[6] STRUCTURAL ORGANIZATION AND CHROMOSOMAL LOCALIZATION OF THE HUMAN NUCLEAR GENE (NDUFV2) FOR THE 24-KDA IRON-SULFUR SUBUNIT OF COMPLEX-I IN MITOCHONDRIAL RESPIRATORY-CHAIN [J].

HATTORI, N ;

SUZUKI, H ;

WANG, YM ;

MINOSHIMA, S ;

SHIMIZU, N ;

YOSHINO, H ;

KURASHIMA, R ;

TANAKA, M ;

OZAWA, T ;

MIZUNO, Y .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1995, 216 (03) :771-777

[7] Assignment of the PSST subunit gene of human mitochondrial complex I to chromosome 19p13 [J].

Hyslop, SJ ;

Duncan, AMV ;

Pitkanen, S ;

Robinson, BH .

GENOMICS, 1996, 37 (03) :375-380

[8] POSSIBLE-X LINKED CONGENITAL MITOCHONDRIAL CARDIOMYOPATHY IN 3 FAMILIES [J].

ORSTAVIK, KH ;

SKJORTEN, F ;

HELLEBOSTAD, M ;

HAGA, P ;

LANGSLET, A .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (04) :269-272

[9] cDNA sequence and chromosomal localization of the NDUFS8 human gene coding for the 23 kDa subunit of the mitochondrial complex I [J].

Procaccio, V ;

Depetris, D ;

Soularue, P ;

Mattei, MG ;

Lunardi, J ;

Issartel, JP .

BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION, 1997, 1351 (1-2) :37-41

[10]

PTA I, 1997, BIOCHIM BIOPHYS ACTA, V1350, P115

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