Literature DB >> 3994700

Fluorometric assay of acyl-CoA dehydrogenases in normal and mutant human fibroblasts.

F E Frerman, S I Goodman.   

Abstract

A fluorimetric, ETF-linked procedure to determine activities of acyl-CoA dehydrogenase in cultured human fibroblasts is described. The assay readily distinguishes between cell lines deficient in medium-chain acyl-CoA dehydrogenase, long-chain acyl-CoA dehydrogenase, isovaleryl-CoA dehydrogenase, and controls, and may allow for the diagnosis of heterozygous carriers of these disorders. The method has been made feasible with the development of rapid and efficient procedures to isolate ETF, and offers several advantages over procedures that are currently employed.

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Year:  1985        PMID： 3994700     DOI： 10.1016/0006-2944(85)90124-3

Source DB:  PubMed          Journal:  Biochem Med        ISSN： 0006-2944


  41 in total

1.  Assessment of deficiencies of fatty acyl-CoA dehydrogenases in fibroblasts, muscle and liver.

Authors:  H R Scholte; J D Ross; W Blom; A M Boonman; O P van Diggelen; C L Hall; J G Huijmans; I E Luyt-Houwen; W J Kleijer; J B de Klerk
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

2.  Measurement of acyl-CoA dehydrogenase activity in cultured skin fibroblasts and blood platelets.

Authors:  R W Taylor; S Jackson; M Pourfarzam; K Bartlett; D M Turnbull
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982

3.  Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency.

Authors:  Manuel Schiff; Birgit Haberberger; Chuanwu Xia; Al-Walid Mohsen; Eric S Goetzman; Yudong Wang; Radha Uppala; Yuxun Zhang; Anuradha Karunanidhi; Dolly Prabhu; Hana Alharbi; Edward V Prochownik; Tobias Haack; Johannes Häberle; Arnold Munnich; Agnes Rötig; Robert W Taylor; Robert D Nicholls; Jung-Ja Kim; Holger Prokisch; Jerry Vockley
Journal:  Hum Mol Genet       Date:  2015-02-26       Impact factor: 6.150

4.  Chronic intermittent form of isovaleric aciduria in a 2-year-old boy.

Authors:  Jin Min Cho; Beom Hee Lee; Gu-Hwan Kim; Yoo-Mi Kim; Jin-Ho Choi; Han-Wook Yoo
Journal:  Korean J Pediatr       Date:  2013-08-27

5.  Different spectrum of mutations of isovaleryl-CoA dehydrogenase (IVD) gene in Korean patients with isovaleric acidemia.

Authors:  Yong-Wha Lee; Dong Hwan Lee; Jerry Vockley; Nam-Doo Kim; You Kyoung Lee; Chang-Seok Ki
Journal:  Mol Genet Metab       Date:  2007-06-18       Impact factor: 4.797

6.  A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening.

Authors:  Regina Ensenauer; Jerry Vockley; Jan-Marie Willard; Joseph C Huey; Jörn Oliver Sass; Steven D Edland; Barbara K Burton; Susan A Berry; René Santer; Sarah Grünert; Hans-Georg Koch; Iris Marquardt; Piero Rinaldo; Sihoun Hahn; Dietrich Matern
Journal:  Am J Hum Genet       Date:  2004-10-14       Impact factor: 11.025

7.  Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency.

Authors:  W Ruitenbeek; P J Poels; D M Turnbull; B Garavaglia; R A Chalmers; R W Taylor; F J Gabreëls
Journal:  J Neurol Neurosurg Psychiatry       Date:  1995-02       Impact factor: 10.154

8.  Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene.

Authors:  B S Andresen; T G Jensen; P Bross; I Knudsen; V Winter; S Kølvraa; L Bolund; J H Ding; Y T Chen; J L Van Hove
Journal:  Am J Hum Genet       Date:  1994-06       Impact factor: 11.025

9.  Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency.

Authors:  B S Andresen; S Olpin; B J Poorthuis; H R Scholte; C Vianey-Saban; R Wanders; L Ijlst; A Morris; M Pourfarzam; K Bartlett; E R Baumgartner; J B deKlerk; L D Schroeder; T J Corydon; H Lund; V Winter; P Bross; L Bolund; N Gregersen
Journal:  Am J Hum Genet       Date:  1999-02       Impact factor: 11.025

10.  Molecular basis of inherited medium-chain acyl-CoA dehydrogenase deficiency causing sudden child death.

Authors:  D P Kelly; D E Hale; S L Rutledge; M L Ogden; A J Whelan; Z Zhang; A W Strauss
Journal:  J Inherit Metab Dis       Date:  1992       Impact factor: 4.982
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