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Last updated: 26-Jun-98
REFERENCE FORMAT: Author Lastname; Firstname; Article Number; Article Title; Journal or Book; Year; Volume; Page Numbers
Andresen ; BS ; 2358 ; A silent A to G mutation in exon 11 of the medium-chain acyl-CoA dehydrogenase (MCAD) gene. ; Human Molecular Genetics ; 1993 ; 2(4) ; 488
Andresen ; BS ; 2347* ; A rare disease-associated mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene changes a conserved arginine, previously shown to be functionally essential in short-chain acyl-CoA dehydrogenase (SCAD). ; American Journal of Human Genetics ; 1993 ; 53(3) ; 730-9
Andresen ; BS ; 5680 ; The molecular basis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in compound heterozygous patients: is there correlation between genotype and phenotype? ; Hum Mol Genet ; 1997 ; 6(5) ; 695-707
Andresen ; BS ; 2331* ; Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency due to heterozygosity for the common mutation and an allele resulting in low levels of MCAD mRNA. ; Journal of Inherited Metabolic Disease ; 1994 ; 17(3) ; 275-8
Anonymous ; ; 2370 ; Mutations causing medium-chain acyl-CoA dehydrogenase deficiency: a collaborative compilation of the data from 172 patients. Workshop on Molecular Aspects of MCAD Deficiency. ; Progress in Clinical & Biological Research ; 1992 ; 375 ; 499-506
Aynsley-Green ; A ; 3155* ; Glucose, the brain and the paediatric endocrinologist. ; Horm Res ; 1996 ; 46(1) ; 8-25
Baker-Malcolm ; JF ; 5698 ; Elimination reactions in the medium-chain acyl-CoA dehydrogenase: bioactivation of cytotoxic 4-thiaalkanoic acids. ; Biochemistry ; 1998 ; 37(5) ; 1383-93
Battaile ; KP ; 5709 ; Functional role of the active site glutamate-368 in rat short chain acyl-CoA dehydrogenase. ; Biochemistry ; 1996 ; 35(48) ; 15356-63
Battaile ; KP ; 5708 ; Human long chain, very long chain and medium chain acyl-CoA dehydrogenases are specific for the S-enantiomer of 2- methylpentadecanoyl-CoA. ; Biochim Biophys Acta ; 1998 ; 1390(3) ; 333-8
Beever ; JE ; 5711 ; Mapping of eight human chromosome 1 orthologs to cattle chromosomes 3 and 16. ; Mamm Genome ; 1997 ; 8(7) ; 533-6
Blakemore ; AI ; 2387 ; Frequency of the G985 MCAD mutation in the general population [letter]. ; Lancet ; 1991 ; 337(8736) ; 298-9
Boles ; RG ; 5730 ; Sudden death beyond SIDS [letter] ; Pediatr Pathol Lab Med ; 1996 ; 16(4) ; 691-3
Bove ; KE ; 2376 ; Postmortem identification of medium chain acyl-CoA dehydrogenase (MCAD) deficiency [letter; comment]. ; Pediatric Pathology ; 1992 ; 12(4) ; 621-5
Brivet ; M ; 3247* ; Rapid diagnosis of long chain and medium chain fatty acid oxidation disorders using lymphocytes. ; Ann Clin Biochem ; 1995 ; 32( Pt 2) ; 154-159
Bross ; P ; 5742 ; Impaired folding and subunit assembly as disease mechanism: the example of medium-chain acyl-CoA dehydrogenase deficiency. ; Prog Nucleic Acid Res Mol Biol ; 1998 ; 58 ; 301-37
Bross ; P ; 2326* ; Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme. ; Journal of Biological Chemistry ; 1995 ; 270(17) ; 10284-90
Bross ; P ; 2373 ; Characterization of medium-chain acyl-CoA dehydrogenase (MCAD) with a point mutation associated with MCAD deficiency. ; Progress in Clinical & Biological Research ; 1992 ; 375 ; 473-8
Burlina ; AB ; 3256 ; Medium-chain acyl-CoA dehydrogenase deficiency presenting in the neonatal period: the first Italian case ; Eur J Pediatr ; 1995 ; 154(11) ; 940-941
Casey ; JL ; 2369 ; MCAD deficiency in the Holderman Mennonite population in central Kansas [see comments]. ; Kansas Medicine ; 1992 ; 93(11) ; 306-8
Chace ; DH ; 5763 ; Rapid diagnosis of MCAD deficiency: quantitatively analysis of octanoylcarnitine and other acylcarnitines in newborn blood spots by tandem mass spectrometry. ; Clin Chem ; 1997 ; 43(11) ; 2106-13
Coates ; PM ; 2334* ; New developments in the diagnosis and investigation of mitochondrial fatty acid oxidation disorders. [Review] ; European Journal of Pediatrics ; 1994 ; 153(7 Suppl 1) ; S49-56
Corydon ; TJ ; 5794 ; Rapid degradation of short-chain acyl-CoA dehydrogenase variants with temperature-sensitive folding defects occurs after import into mitochondria [In Process Citation] ; J Biol Chem ; 1998 ; 273(21) ; 13065-71
Costa ; CG ; 5797 ; Quantitative analysis of plasma acylcarnitines using gas chromatography chemical ionization mass fragmentography. ; J Lipid Res ; 1997 ; 38(1) ; 173-82
Costa ; CG ; 5796 ; Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders. ; Clin Chem ; 1998 ; 44(3) ; 463-71
de Vries ; HG ; 3346 ; Prevalence of carriers of the most common medium-chain acyl-CoA dehydrogenase (MCAD) deficiency mutation (G985A) in The Netherlands. ; Human Genetics ; 1996 ; 98(1) ; 1-2
Dearlove ; OR ; 2328* ; MCAD deficiency and anaesthesia [letter]. ; Anaesthesia ; 1995 ; 50(3) ; 265
Ding ; JH ; 2384 ; Identification of a new mutation in medium-chain acyl-CoA dehydrogenase (MCAD) deficiency. ; American Journal of Human Genetics ; 1992 ; 50(1) ; 229-33
Ding ; JH ; 2372 ; Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles. ; Progress in Clinical & Biological Research ; 1992 ; 375 ; 479-88
Disch ; DL ; 5824 ; Transcriptional control of a nuclear gene encoding a mitochondrial fatty acid oxidation enzyme in transgenic mice: role for nuclear receptors in cardiac and brown adipose expression. ; Mol Cell Biol ; 1996 ; 16(8) ; 4043-51
Djouadi ; F ; 5825 ; Tissue-specific regulation of medium-chain acyl-CoA dehydrogenase gene by thyroid hormones in the developing rat. ; Biochem J ; 1997 ; 324 ( Pt 1) ; 289-94
Dundar ; M ; 2349* ; Scottish frequency of the common G985 mutation in the medium-chain acyl-CoA dehydrogenase (MCAD) gene and the role of MCAD deficiency in sudden infant death syndrome (SIDS). ; Journal of Inherited Metabolic Disease ; 1993 ; 16(6) ; 991-3
Eder ; M ; 5835 ; Characterization of human and pig kidney long-chain-acyl-CoA dehydrogenases and their role in beta-oxidation. ; Eur J Biochem ; 1997 ; 245(3) ; 600-7
Flath ; B ; 5854 ; Simple high-performance liquid chromatographic method for the detection of phenylpropionylglycine in urine as a diagnostic tool in inherited medium-chain acyl-coenzyme A dehydrogenase deficiency. ; J Chromatogr B Biomed Sci Appl ; 1997 ; 694(1) ; 227-32
Fontaine ; M ; 5858 ; Acylcarnitine removal in a patient with acyl-CoA beta-oxidation deficiency disorder: effect of L-carnitine therapy and starvation. ; Clin Chim Acta ; 1996 ; 252(2) ; 109-22
Fromenty ; B ; 3425* ; Most cases of medium-chain acyl-CoA dehydrogenase deficiency escape detection in France. ; Human Genetics ; 1996 ; 97(3) ; 367-368
Garcia-Silva ; MT ; 5874 ; Syndrome of encephalopathy, petechiae, and ethylmalonic aciduria. ; Pediatr Neurol ; 1997 ; 17(2) ; 165-70
Gregersen ; N ; 2346 ; Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: the prevalent mutation G985 (K304E) is subject to a strong founder effect from northwestern Europe. ; Human Heredity ; 1993 ; 43(6) ; 342-50
Gregersen ; N ; 2325* ; Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood. ; Prenatal Diagnosis ; 1995 ; 15(1) ; 82-6
Gregersen ; N ; 2392 ; Specific diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in dried blood spots by a polymerase chain reaction (PCR) assay detecting a point-mutation (G985) in the MCAD gene. ; Clinica Chimica Acta ; 1991 ; 203(1) ; 23-34
Gregersen ; N ; 2396 ; Molecular characterization of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: identification of a lys329 to glu mutation in the MCAD gene, and expression of inactive mutant enzyme protein in E. coli. ; Human Genetics ; 1991 ; 86(6) ; 545-51
Gregersen ; N ; 3471* ; Molecular genetic characterization and urinary excretion pattern of metabolites in two families with MCAD deficiency due to compound heterozygosity with a 13 base pair insertion in one allele. ; J Inherit Metab Dis ; 1994 ; 17(2) ; 169-184
Hazekawa ; I ; 5911 ; A Raman study on the C(4)=O stretching mode of flavins in flavoenzymes: hydrogen bonding at the C(4)=O moiety. ; J Biochem (Tokyo) ; 1997 ; 121(6) ; 1147-54
Hendrickx ; J ; 2381 ; Prenatal exclusion of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency by direct detection of the mutation with PCR [letter]. ; Prenatal Diagnosis ; 1992 ; 12(1) ; 74-6
Jakobs ; C ; 5949 ; In vivo stable isotope studies in three patients affected with mitochondrial fatty acid oxidation disorders: limited diagnostic use of 1-13C fatty acid breath test using bolus technique. ; Eur J Pediatr ; 1997 ; 156 Suppl 1 ; S78-82
Jlst ; IL ; 5954 ; Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein ; J Clin Invest ; 1996 ; 98(4) ; 1028-33
Johnson ; BD ; 2324* ; Effect of transition-state analogues on the redox properties of medium-chain acyl-CoA dehydrogenase. ; Biochemistry ; 1995 ; 34(21) ; 7047-55
Kelly ; DP ; 2375 ; Identification and characterization of the 5' regulatory region of the human medium-chain acyl-CoA dehydrogenase (MCAD) gene. ; Progress in Clinical & Biological Research ; 1992 ; 375 ; 143-9
Kieweg ; V ; 5976 ; Biochemical characterization of purified, human recombinant Lys304-- >Glu medium-chain acyl-CoA dehydrogenase containing the common disease- causing mutation and comparison with the normal enzyme. ; Eur J Biochem ; 1997 ; 246(2) ; 548-56
Kumar ; NR ; 2321* ; Facile and restricted pathways for the dissociation of octenoyl-CoA from the medium-chain fatty acyl-CoA dehydrogenase (MCAD)-FADH2-octenoyl-CoA charge-transfer complex: energetics and mechanism of suppression of the enzyme's oxidase activity. ; Biochemistry ; 1995 ; 34(29) ; 9434-43
Leone ; TC ; 2322* ; The human medium chain Acyl-CoA dehydrogenase gene promoter consists of a complex arrangement of nuclear receptor response elements and Sp1 binding sites. ; Journal of Biological Chemistry ; 1995 ; 270(27) ; 16308-14
Little ; JA ; 3710* ; Metabolic persistence of fetal hemoglobin. ; Blood ; 1995 ; 85(7) ; 1712-1718
Lundemose ; JB ; 6030 ; Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children: an investigation performed on cultured fibroblasts from 79 children who died aged between 0-4 years. ; Mol Pathol ; 1997 ; 50(4) ; 212-7
Macheroux ; P ; 6033 ; Medium-chain acyl CoA dehydrogenase: evidence for phosphorylation. ; Biol Chem ; 1997 ; 378(11) ; 1381-5
Martinez ; G ; 6051 ; Plasma free fatty acids in mitochondrial fatty acid oxidation defects. ; Clin Chim Acta ; 1997 ; 267(2) ; 143-54
Mayatepek ; E ; 6062 ; Hyperuricaemia and medium-chain acyl-CoA dehydrogenase deficiency. ; J Inherit Metab Dis ; 1997 ; 20(6) ; 842-3
Miller ; M ; 2371 ; Frequency of G-985 mutation in medium chain acyl-coenzyme A dehydrogenase (MCAD) deficiency in sudden infant death syndrome (SIDS). ; Progress in Clinical & Biological Research ; 1992 ; 375 ; 495-8
Morris ; AA ; 6099 ; Renal tubular dysfunction in multiple acyl-CoA dehydrogenase deficiency. ; J Inherit Metab Dis ; 1997 ; 20(4) ; 604-5
Morris ; AA ; 3821* ; Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12. ; Human Molecular Genetics ; 1995 ; 4(4) ; 747-749
Nada ; MA ; 3845* ; Prenatal diagnosis of mitochondrial fatty acid oxidation defects. ; Prenat Diagn ; 1996 ; 16(2) ; 117-124
Nada ; MA ; 2317 ; Investigation of beta-oxidation intermediates in normal and MCAD-deficient human fibroblasts using tandem mass spectrometry. ; Biochemical & Molecular Medicine ; 1995 ; 54(1) ; 59-66
Nagao ; M ; 6111 ; Frequency of 985A-to-G mutation in medium-chain acyl-CoA dehydrogenase gene among patients with sudden infant death syndrome, Reye syndrome, severe motor and intellectual disabilities and healthy newborns in Japan. ; Acta Paediatr Jpn ; 1996 ; 38(4) ; 304-7
Nandy ; A ; 3858 ; Molecular evolution and substrate specificity of acyl-CoA dehydrogenases: chimaeric "medium/long' chain-specific enzyme from medium-chain acyl-CoA dehydrogenase. ; Biochem Soc Trans ; 1996 ; 24(1) ; 105-110
Njolstad ; PR ; 6124 ; Medium chain acyl-CoA dehydrogenase deficiency and fatal valproate toxicity. ; Pediatr Neurol ; 1997 ; 16(2) ; 160-2
Onkenhout ; W ; 2316* ; Identification and quantification of intermediates of unsaturated fatty acid metabolism in plasma of patients with fatty acid oxidation disorders. ; Clinical Chemistry ; 1995 ; 41(10) ; 1467-74
Opdal ; SH ; 3901* ; Is the medium-chain acyl-CoA dehydrogenase G985 mutation involved in sudden infant death in Norway? ; Eur J Pediatr ; 1995 ; 154(2) ; 166-167
Pang ; CP ; 6146 ; Biochemical investigation of young hospitalized Chinese children: results over a 7-year period. ; Am J Med Genet ; 1997 ; 72(4) ; 417-21
Peterson ; KL ; 6161 ; Functional role of a distal (3'-phosphate) group of CoA in the recombinant human liver medium-chain acyl-CoA dehydrogenase-catalysed reaction. ; Biochem J ; 1997 ; 325 ( Pt 3) ; 751-60
Peterson ; KL ; 6160 ; Influence of excision of a methylene group from Glu-376 (Glu376-->Asp mutation) in the medium chain acyl-CoA dehydrogenase-catalyzed reaction. ; Biochemistry ; 1998 ; 37(6) ; 1697-705
Qin ; L ; 6174 ; Energetics of two-step binding of a chromophoric reaction product, trans-3-indoleacryloyl-CoA, to medium-chain acyl-coenzyme-A dehydrogenase. ; Biochemistry ; 1998 ; 37(10) ; 3499-508
Roberts ; DL ; 6186 ; Three-dimensional structure of human electron transfer flavoprotein to 2.1-A resolution. ; Proc Natl Acad Sci U S A ; 1996 ; 93(25) ; 14355-60
Romppanen ; EL ; 6189 ; Molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by oligonucleotide ligation assay [see comments] ; Clin Chem ; 1998 ; 44(1) ; 68-71
Ross ; KF ; 6192 ; Comment on "Whole blood levels of dodecanoic acid, a routinely detectable forensic marker for a genetic disease often misdiagnosed as sudden infant death syndrome (SIDS): MCAD deficiency" [letter; comment] ; Am J Forensic Med Pathol ; 1996 ; 17(4) ; 349-50
Ruitenbeek ; W ; 2329* ; Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency. ; Journal of Neurology, Neurosurgery & Psychiatry ; 1995 ; 58(2) ; 209-14
Ryan ; A ; 6197 ; Rapid testing for the MCAD G583A mutation, by PCR-mediated site directed mutagenesis, in an Australian population of SIDS patients. ; Dis Markers ; 1997 ; 13(2) ; 131-4
Sack ; MN ; 6199 ; A role for Sp and nuclear receptor transcription factors in a cardiac hypertrophic growth program. ; Proc Natl Acad Sci U S A ; 1997 ; 94(12) ; 6438-43
Sack ; MN ; 6198 ; Fatty acid oxidation enzyme gene expression is downregulated in the failing heart. ; Circulation ; 1996 ; 94(11) ; 2837-42
Saijo ; T ; 4018* ; Isoalloxazine ring of FAD is required for the formation of the core in the Hsp60-assisted folding of medium chain acyl-CoA dehydrogenase subunit into the assembly competent conformation in mitochondria. ; J Biol Chem ; 1995 ; 270(4) ; 1899-1907
Schwartz ; EI ; 2318* ; The frequency of MCAD mutation (K329E) in the Finnish population [letter]. ; European Journal of Pediatrics ; 1995 ; 154(6) ; 501
Seddon ; HR ; 6223 ; Population screening for the common G985 mutation causing medium-chain acyl-CoA dehydrogenase deficiency with Eu-labeled oligonucleotides and the DELFIA system. ; Clin Chem ; 1997 ; 43(3) ; 436-42
Sladek ; R ; 6249 ; The orphan nuclear receptor estrogen-related receptor alpha is a transcriptional regulator of the human medium-chain acyl coenzyme A dehydrogenase gene. ; Mol Cell Biol ; 1997 ; 17(9) ; 5400-9
Srivastava ; DK ; 2327* ; "Dehydrogenase" and "oxidase" reactions of medium-chain fatty acyl-CoA dehydrogenase utilizing chromogenic substrates: role of the 3',5'-adenosine diphosphate moiety of the coenzyme A thioester in catalysis. ; Biochemistry ; 1995 ; 34(14) ; 4625-32
Srivastava ; DK ; 6267 ; Isothermal titration microcalorimetric studies for the binding of octenoyl-CoA to medium chain acyl-CoA dehydrogenase. ; Biochemistry ; 1997 ; 36(21) ; 6359-66
Tanaka ; K ; 2364 ; Mutations in the medium chain acyl-CoA dehydrogenase (MCAD) gene. [Review] ; Human Mutation ; 1992 ; 1(4) ; 271-9
Tanaka ; K ; 6306 ; A survey of the newborn populations in Belgium, Germany, Poland, Czech Republic, Hungary, Bulgaria, Spain, Turkey, and Japan for the G985 variant allele with haplotype analysis at the medium chain Acyl-CoA dehydrogenase gene locus: clinical and ; Pediatr Res ; 1997 ; 41(2) ; 201-9
Thorpe ; C ; 4174 ; Structure and mechanism of action of the acyl-CoA dehydrogenases. ; FASEB J ; 1995 ; 9(9) ; 718-725
Tuchman ; M ; 6332 ; Molecular diagnosis of medium-chain acyl-CoA dehydrogenase deficiency by oligonucleotide ligation assay [editorial; comment] ; Clin Chem ; 1998 ; 44(1) ; 10-1
Van Hove ; JL ; 2362* ; Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency: diagnosis by acylcarnitine analysis in blood. ; American Journal of Human Genetics ; 1993 ; 52(5) ; 958-66
Vega ; RB ; 6342 ; A role for estrogen-related receptor alpha in the control of mitochondrial fatty acid beta-oxidation during brown adipocyte differentiation. ; J Biol Chem ; 1997 ; 272(50) ; 31693-9
Vianey-Saban ; C ; 6348 ; Mitochondrial very-long-chain acyl-coenzyme A dehydrogenase deficiency: clinical characteristics and diagnostic considerations in 30 patients. ; Clin Chim Acta ; 1998 ; 269(1) ; 43-62
Vock ; P ; 6357 ; Substrate activation by acyl-CoA dehydrogenases: transition-state stabilization and pKs of involved functional groups. ; Biochemistry ; 1998 ; 37(7) ; 1848-60
Yokota ; I ; 2385 ; Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. ; American Journal of Human Genetics ; 1991 ; 49(6) ; 1280-91
Zhang ; Z ; 2348* ; Three RFLPs defining a haplotype associated with the common mutation in human medium-chain acyl-CoA dehydrogenase (MCAD) deficiency occur in Alu repeats. ; American Journal of Human Genetics ; 1993 ; 52(6) ; 1111-21