Concepedia

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

Apolline Imbard, Audrey Boutron, Christiane Vequaud, Mokhtar Zater, Pascale de Lonlay, H. Ogier de Baulny, Christine Barnérias, Manuèle Miné, C. Marsac, Jean‐Marie Saudubray,

Molecular Genetics and Metabolism · 2011 · 93 citations · 34 references

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34

Epidemiology of mucopolysaccharidoses

Shaukat Khan, Hira Peracha, Diana Ballhausen et al. · Molecular Genetics and Metabolism · 2017 · 1.1K citations

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

Christine Barnérias, Jean‐Marie Saudubray, Guy Touati et al. · Developmental Medicine & Child Neurology · 2009 · 179 citations · Full text

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

Ewa Ciszak, Lioubov G. Korotchkina, P.M. Dominiak et al. · Journal of Biological Chemistry · 2003 · 171 citations · Full text

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

Masato Kato, Richard Wynn, Jacinta L. Chuang et al. · Structure · 2008 · 129 citations · Full text

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Phosphorylation of additional sites on pyruvate dehydrogenase inhibits its re-activation by pyruvate dehydrogenase phosphate phosphatase

P H Sugden, Nancy J. Hutson, A L Kerbey et al. · Biochemical Journal · 1978 · 91 citations · Full text

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