Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele-Reference-Cited by-同舟云学术

Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele

Published:2012-01-10 Issue:5 Volume:35 Page:787-796
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Bross Peter,Frederiksen Jane B.,Bie Anne S.,Hansen Jakob,Palmfeldt Johan,Nielsen Marit N.,Duno Morten,Lund Allan M.,Christensen Ernst

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-011-9437-y

Reference20 articles.

1. Bross P, Andresen BS, Winter V, Kräutle F, Jensen TG, Nandy A, Kølvraa S, Ghisla S, Bolund L, Gregersen N (1993) 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. Biochim Biophys Acta 1182:264–274

2. Bross P, Jespersen C, Jensen TG, Andresen BS, Kristensen MJ, Winter V, Nandy A, Kräutle F, Ghisla S, Bolund L, Kim JJP, Gregersen N (1995) Effects of two mutations detected in medium chain acyl-CoA dehydrogenase (MCAD)-deficient patients on folding, oligomer assembly, and stability of MCAD enzyme. J Biol Chem 270:10284–10290

3. Bross P, Corydon TJ, Andresen BS, Jørgensen MM, Bolund L, Gregersen N (1999) Protein misfolding and degradation in genetic diseases. Hum Mutat 14:186–198

4. Bross P, Naundrup S, Hansen J, Nielsen MN, Christensen JH, Kruhoffer M, Palmfeldt J, Corydon TJ, Gregersen N, Ang D, Georgopoulos C, Nielsen KL (2008) The HSP60-(P.val98ile) mutation associated with hereditary spastic paraplegia SPG13 compromises chaperonin function both in vitro and in vivo. J Biol Chem 283:15694–15700

5. Castanie MP, Berges H, Oreglia J, Prere MF, Fayet O (1997) A set of pBR322-compatible plasmids allowing the testing of chaperone-assisted folding of proteins overexpressed in Escherichia coli. Anal Biochem 254:150–152

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Compilation of Genotype and Phenotype Data in GCDH-LOVD for Variant Classification and Further Application;Genes;2023-12-14

2. The Spectrum of the Heterozygous Effect in Biallelic Mendelian Diseases—The Symptomatic Heterozygote Issue;Genes;2023-07-31

3. Exploring genotype–phenotype correlations in glutaric aciduria type 1;Journal of Inherited Metabolic Disease;2023-04-16

4. Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision;Journal of Inherited Metabolic Disease;2022-11-17

5. Potential complementation effects of two disease-associated mutations in tetrameric glutaryl-CoA dehydrogenase is due to inter subunit stability-activity counterbalance;Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics;2020-01