| 1 | ACADS
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| Molecular pathogenesis of a novel mutation, G108D, in short-chain acyl-CoA dehydrogenase identified in subjects with short-chain acyl-CoA dehydrogenase deficiency.
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| Shirao K, Okada S, Tajima G, Tsumura M, Hara K, Yasunaga S, Ohtsubo M, Hata I, Sakura N, Shigematsu Y, Takihara Y, Kobayashi M.
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| Hum Genet 127(6):619-28. Epub 2010 Apr 8. Review.PMID: 20376488 2010
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| 2 | ACADS
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| The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.
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| Pedersen CB, Kølvraa S, Kølvraa A, Stenbroen V, Kjeldsen M, Ensenauer R, Tein I, Matern D, Rinaldo P, Vianey-Saban C, Ribes A, Lehnert W, Christensen E, Corydon TJ, Andresen BS, Vang S, Bolund L, Vockley J, Bross P, Gregersen N.
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| Hum Genet 124(1):43-56. Epub 2008 Jun 4.
2008
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| 3 | ACADS
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| Short-chain acyl-CoA dehydrogenase (SCAD) deficiency: an examination of the medical and neurodevelopmental characteristics of 14 cases identified through newborn screening or clinical symptoms.
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| Waisbren SE, Levy HL, Noble M, Matern D, Gregersen N, Pasley K, Marsden D.
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| Mol Genet Metab 95(1-2):39-45. Epub 2008 Aug 3.
2008
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| 4 | ACADS
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| Brain malformation and infantile spasms in a SCAD deficiency patient.
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| Mikati MA, Chaaban HR, Karam PE, Krishnamoorthy KS.
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| Pediatr Neurol 36(1):48-50.
2007
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| 5 | ACADS
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| Functional analysis of acyl-CoA dehydrogenase catalytic residue mutants using surface plasmon resonance and circular dichroism.
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| Goetzman ES, He M, Nguyen TV, Vockley J.
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| Mol Genet Metab 87(3):233-42. Epub 2005 Dec 22. 2006
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| 6 | ACADS
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| Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients : one of the variant alleles, 511C-T, is present at an unexpectedly high frequency in the general population, as was the case for 625G-A, together conferring susceptibility to ethylmalonic aciduria.
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| Gregersen N, et al.
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| Hum Mol Genet 7 : 619-627. 1998
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| 7 | ACADS
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| Structural organization of the human short-chain acyl-CoA dehydrogenase gene.
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| Corydon MJ, Andresen BS, Bross P, Kjeldsen M, Andreasen PH, Eiberg H, Kolvraa S, Gregersen N.
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| Mamm Genome 8(12):922-6. 1997
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| 8 | ACADS
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| Amino acid polymorphism (Gly209Ser) in the ACADS gene.
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| Kristensen MJ, et al.
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| Hum Mol Genet 3 : 1711. 1994
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| 9 | ACADS
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| New point mutations in short chain acyl-coenzyme a dehydrogenase deficiency.
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| Kristensen MJ, et al.
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| Am J Hum Genet 53 : 915. 1993
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| 10 | ACADS
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| Molecular cloning and nucleotide sequence of complementary DNAs encoding human short chain acyl-coenzyme A dehydrogenase and the study of the molecular basis of human short chain acyl-coenzyme A dehydrogenase deficiency.
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| Naito E, Ozasa H, Ikeda Y, Tanaka K.
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| J Clin Invest 83 : 1605-1613. 1989
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| 11 | ACADS, ETFA
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| Short chain acyl-CoA dehydrogenase (ACADS) maps to chromosomes 12 (q22-qter) and electron transfer flavoprotein (ETFA) to 15(q23-q25).
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| Barton DE, et al.
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| (HGM9) Cytogenet Cell Genet 46 : 577. 1987
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| 12 | ACADS
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| Short-chain acyl-CoA dehydrogenase deficiency associated with a lipid-storage myopathy and secondary carnitine deficiency.
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| Turnbull DM, et al.
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| N Engl J Med 311 : 1232-1236. 1984
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