Mutation analysis of very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) deficiency: Identification and characterization of mutant VLCAD cDNAs from four patients

American Journal of Human Genetics

Volumn 58, Issue 1, 1996, Pages 97-106

  Souri, Masayoshi ^a   Aoyama, Toshifumi ^a   Orii, Kohji ^b   Yamaguchi, Seiji ^c   Hashimoto, Takashi ^a  

^a SHINSHU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b GIFU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c SHIMANE UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

ACYL COENZYME A DEHYDROGENASE; VERY LONG CHAIN FATTY ACID;

ARTICLE; CASE REPORT; ENZYME ACTIVITY; ENZYME DEFICIENCY; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; HUMAN; PRIORITY JOURNAL; PROTEIN ASSEMBLY; RNA TRANSCRIPTION;

CRICETINAE; CRICETULUS GRISEUS;

EID: 0029655912     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (5)

1. Akli S, Chelly J, Lacorte J-M, Poenaru L, Kahn A (1991) Seven novel Tay-Sachs mutations detected by chemical mismatch cleavage of PCR-amplified cDNA fragments. Genomics 11:124-134
2. Aoyama T, Souri M, Ueno I, Kamijo T, Yamaguchi S, Rhead WJ, Tanaka K, et al (1995a) Cloning of human very-longchain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. Am J Hum Genet 57:273-283
3. Aoyama T, Souri M, Ushikubo S, Kamijo T, Yamaguchi S, Kelley RI, Rhead WJ, et al (1995b) Purification of human very-long-chain acyl-coenzyme A dehydrogenase and characterization of its deficiency in seven patients. J Clin Invest 95:2465-2473
4. Aoyama T, Uchida Y, Kelley RI, Marble M, Hofman K, Tonsgard JH, Rhead WJ, et al (1993) A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun 191:1369-137
5. Aoyama T, Ueno I, Kamijo T, Hashimoto T (1994) Rat verylong-chain acyl-CoA dehydrogenase, a novel mitochondrial acyl-CoA dehydrogenase gene product, is a rate-limiting enzyme in long-chain fatty acid ß-oxidation system: cDNA and deduced amino acid sequence and distinct specificities of the cDNA-expressed protein. J Biol Chem 269:1908819094