Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.

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Disease-causing mutations affecting surface residues of mitochondrial glutaryl-CoA dehydrogenase impair stability, heteromeric complex formation and mitochondria architecture.

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2017 nî lūn-bûn

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2017年の論文

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2017年論文

@yue

2017年論文

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2017年論文

@zh-hk

2017年論文

@zh-mo

2017年論文

@zh-tw

2017年论文

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2017年论文

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2017年论文

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Disease-causing mutations affe ...... and mitochondria architecture.

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Disease-causing mutations affe ...... and mitochondria architecture.

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Disease-causing mutations affe ...... and mitochondria architecture.

@en

Disease-causing mutations affe ...... and mitochondria architecture.

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Disease-causing mutations affe ...... and mitochondria architecture.

@en

Disease-causing mutations affe ...... and mitochondria architecture.

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P1476

Disease-causing mutations affe ...... and mitochondria architecture.

@en

P2093

Ania C Muntau

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Benjamin Lohmöller

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Jessica Schmiesing

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Michaela Schweizer

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Søren W Gersting

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Thomas Braulke

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P2860

Protein misfolding is the molecular mechanism underlying MCADD identified in newborn screening

The effect of a Glu370Asp mutation in glutaryl-CoA dehydrogenase on proton transfer to the dienolate intermediate

Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli

Disease-causing missense mutations affect enzymatic activity, stability and oligomerization of glutaryl-CoA dehydrogenase (GCDH)

A variant of yellow fluorescent protein with fast and efficient maturation for cell-biological applications

Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency

Crystal structures of human glutaryl-CoA dehydrogenase with and without an alternate substrate: structural bases of dehydrogenation and decarboxylation reactions

Correlation of genotype and phenotype in glutaryl-CoA dehydrogenase deficiency

Glutaric aciduria type I with high residual glutaryl-CoA dehydrogenase activity

Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I

P304

538-551

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P31

scholarly article

P356

10.1093/HMG/DDW411

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P433

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P478

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P50

Chris Mühlhausen

Henning Tidow

P577

2017-01-05T00:00:00Z

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P698

28062662

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