Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: Identification of two new mutations

被引:10
作者
IJlst, L
Oostheim, W
Ruiter, JPN
Wanders, RJA
机构
[1] UNIV AMSTERDAM,ACAD MED CTR,DEPT PAEDIAT,NL-1100 DE AMSTERDAM,NETHERLANDS
[2] UNIV AMSTERDAM,ACAD MED CTR,DEPT CLIN CHEM,NL-1100 DE AMSTERDAM,NETHERLANDS
关键词
D O I
10.1023/A:1005310903004
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:420 / 422
页数:3
相关论文
共 8 条
[1]   HUMAN LIVER LONG-CHAIN 3-HYDROXYACYL-COENZYME-A DEHYDROGENASE IS A MULTIFUNCTIONAL MEMBRANE-BOUND BETA-OXIDATION ENZYME OF MITOCHONDRIA [J].
CARPENTER, K ;
POLLITT, RJ ;
MIDDLETON, B .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1992, 183 (02) :443-448
[2]   LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY - HIGH-FREQUENCY OF THE G1528C MUTATION WITH NO APPARENT CORRELATION WITH THE CLINICAL PHENOTYPE [J].
IJLST, L ;
USKIKUBO, S ;
KAMIJO, T ;
HASHIMOTO, T ;
RUITER, JPN ;
DEKLERK, JBC ;
WANDERS, RJA .
JOURNAL OF INHERITED METABOLIC DISEASE, 1995, 18 (02) :241-244
[3]   MOLECULAR-BASIS OF LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY - IDENTIFICATION OF THE MAJOR DISEASE-CAUSING MUTATION IN THE ALPHA-SUBUNIT OF THE MITOCHONDRIAL TRIFUNCTIONAL PROTEIN [J].
IJLST, L ;
WANDERS, RJA ;
USHIKUBO, S ;
KAMIJO, T ;
HASHIMOTO, T .
BIOCHIMICA ET BIOPHYSICA ACTA-LIPIDS AND LIPID METABOLISM, 1994, 1215 (03) :347-350
[4]  
ILJST L, 1996, J CLIN INVEST, V98, P881
[5]   MITOCHONDRIAL TRIFUNCTIONAL PROTEIN-DEFICIENCY - CATALYTIC HETEROGENEITY OF THE MUTANT ENZYME IN 2 PATIENTS [J].
KAMIJO, T ;
WANDERS, RJA ;
SAUDUBRAY, JM ;
AOYAMA, T ;
KOMIYAMA, A ;
HASHIMOTO, T .
JOURNAL OF CLINICAL INVESTIGATION, 1994, 93 (04) :1740-1747
[6]   STRUCTURAL-ANALYSIS OF CDNAS FOR SUBUNITS OF HUMAN MITOCHONDRIAL FATTY-ACID BETA-OXIDATION TRIFUNCTIONAL PROTEIN [J].
KAMIJO, T ;
AOYAMA, T ;
KOMIYAMA, A ;
HASHIMOTO, T .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1994, 199 (02) :818-825
[7]   THE MOLECULAR-BASIS OF PEDIATRIC LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY ASSOCIATED WITH MATERNAL ACUTE FATTY LIVER OF PREGNANCY [J].
SIMS, HF ;
BRACKETT, JC ;
POWELL, CK ;
TREEM, WR ;
HALE, DE ;
BENNETT, MJ ;
GIBSON, B ;
SHAPIRO, S ;
STRAUSS, AW .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1995, 92 (03) :841-845
[8]  
UCHIDA Y, 1992, J BIOL CHEM, V267, P1034