Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex ( <scp>PDC</scp> ) deficiency: Impact on <scp>PDC‐E1</scp> structure and function-Reference-Cited by-同舟云学术

Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex ( PDC ) deficiency: Impact on PDC‐E1 structure and function

Published:2022-02 Issue:3 Volume:45 Page:557-570
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Ducich Nicole H.¹,Mears Jason A.²³,Bedoyan Jirair K.⁴⁵^ORCID

Affiliation:

1. Case Western Reserve University (CWRU) School of Medicine Cleveland Ohio USA

2. Department of Pharmacology CWRU Cleveland Ohio USA

3. Center for Mitochondrial Diseases CWRU Cleveland Ohio USA

4. Division of Genetic and Genomic Medicine UPMC Children's Hospital of Pittsburgh Pittsburgh Pennsylvania USA

5. Department of Pediatrics University of Pittsburgh Pittsburgh Pennsylvania USA

Funder

National Institutes of Health

United Mitochondrial Disease Foundation

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12477

Reference56 articles.

1. Structural Basis for Flip-Flop Action of Thiamin Pyrophosphate-dependent Enzymes Revealed by Human Pyruvate Dehydrogenase

2. Structural Basis for Inactivation of the Human Pyruvate Dehydrogenase Complex by Phosphorylation: Role of Disordered Phosphorylation Loops

3. Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein

4. Pyruvate dehydrogenase complex deficiency: updating the clinical, metabolic and mutational landscapes in a cohort of Portuguese patients

5. A Molecular Switch and Proton Wire Synchronize the Active Sites in Thiamine Enzymes

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