The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive.

scientific article published in October 2004

The Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive. is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1111/J.1432-1033.2004.04343.X
P698PubMed publication ID15479234
P5875ResearchGate publication ID8237395

P50authorBrage Storstein AndresenQ30505810
Peter BrossQ50544010
Simon OlpinQ57498100
P2093author name stringNiels Gregersen
Paul C Engel
Thomas J Corydon
John M Kenney
Dianne M Frazier
Shawn E McCandless
Jakob Hansen
Linda O'Reilly
Vibeke Winter
P2860cites workExpression of wild-type and mutant medium-chain acyl-CoA dehydrogenase (MCAD) cDNA in eucaryotic cellsQ41598951
Co-overexpression of bacterial GroESL chaperonins partly overcomes non-productive folding and tetramer assembly of E. coli-expressed human medium-chain acyl-CoA dehydrogenase (MCAD) carrying the prevalent disease-causing K304E mutation.Q54649637
P433issue20
P407language of work or nameEnglishQ1860
P304page(s)4053-4063
P577publication date2004-10-01
P1433published inFEBS JournalQ1388041
P1476titleThe Y42H mutation in medium-chain acyl-CoA dehydrogenase, which is prevalent in babies identified by MS/MS-based newborn screening, is temperature sensitive
P478volume271

Reverse relations

cites work (P2860)
Q34258362A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report
Q35638842Acyl-CoA Dehydrogenase Drives Heat Adaptation by Sequestering Fatty Acids
Q30363996Functional studies of 18 heterologously expressed medium-chain acyl-CoA dehydrogenase (MCAD) variants.
Q24318620Interactions of the acidic domain and SRF interacting motifs with the NKX3.1 homeodomain
Q46632207MCAD deficiency in Denmark.
Q35795433Medium-Chain Acyl-CoA Dehydrogenase Deficiency: Evaluation of Genotype-Phenotype Correlation in Patients Detected by Newborn Screening
Q46807451Medium-chain acyl-CoA dehydrogenase deficiency: genotype-biochemical phenotype correlations
Q46330583Mitochondrial fatty acid oxidation defects--remaining challenges.
Q24312099Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening
Q41869905Relevance of expanded neonatal screening of medium-chain acyl co-a dehydrogenase deficiency: outcome of a decade in galicia (Spain).
Q34282546Risk stratification by residual enzyme activity after newborn screening for medium-chain acyl-CoA dehyrogenase deficiency: data from a cohort study
Q51322391Screening of MCAD deficiency in Japan: 16years' experience of enzymatic and genetic evaluation.
Q35144068The domain-specific and temperature-dependent protein misfolding phenotype of variant medium-chain acyl-CoA dehydrogenase
Q83120524The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005
Q54479997Two novel variants of human medium chain acyl-CoA dehydrogenase (MCAD). K364R, a folding mutation, and R256T, a catalytic-site mutation resulting in a well-folded but totally inactive protein.

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