A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

JIMD Reports ◽

10.1002/jmd2.12054 ◽

2019 ◽

Vol 48 (1) ◽

pp. 26-35 ◽

Author(s):

Jirair K. Bedoyan ◽

Leah Hecht ◽

Shulin Zhang ◽

Stacey Tarrant ◽

Ann Bergin ◽

...

Keyword(s):

Pyruvate Dehydrogenase ◽

Pyruvate Dehydrogenase Complex ◽

Catalytic Subunit ◽

Null Mutation ◽

Subunit Gene ◽

Complex Deficiency ◽

Pyruvate Dehydrogenase Phosphatase ◽

Pyruvate Dehydrogenase Complex Deficiency ◽

Dehydrogenase Complex

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Mutations in the X-linked pyruvate dehydrogenase (E1) ? subunit gene (PDHA1) in patients with a pyruvate dehydrogenase complex deficiency

Human Mutation ◽

10.1002/(sici)1098-1004(200003)15:3<209::aid-humu1>3.0.co;2-k ◽

2000 ◽

Vol 15 (3) ◽

pp. 209-219 ◽

Author(s):

Willy Lissens ◽

Linda De Meirleir ◽

Sara Seneca ◽

Inge Liebaers ◽

Garry K. Brown ◽

...

Keyword(s):

Pyruvate Dehydrogenase ◽

Pyruvate Dehydrogenase Complex ◽

Subunit Gene ◽

Complex Deficiency ◽

Pyruvate Dehydrogenase Complex Deficiency ◽

Dehydrogenase Complex

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Mild Phenotype in a Male with Pyruvate Dehydrogenase Complex Deficiency Associated with Novel Hemizygous In-Frame Duplication of the E1α Subunit Gene (PDHA1)

Neuropediatrics ◽

10.1055/s-0033-1341601 ◽

2013 ◽

Vol 45 (01) ◽

pp. 056-060 ◽

Author(s):

J. Steller ◽

J. Gargus ◽

L. Gibbs ◽

A. Hasso ◽

V. Kimonis

Keyword(s):

Pyruvate Dehydrogenase ◽

Pyruvate Dehydrogenase Complex ◽

Subunit Gene ◽

Mild Phenotype ◽

Complex Deficiency ◽

Frame Duplication ◽

Pyruvate Dehydrogenase Complex Deficiency ◽

Dehydrogenase Complex

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Structural and functional impact of clinically relevant E1α variants causing pyruvate dehydrogenase complex deficiency

Biochimie ◽

10.1016/j.biochi.2021.02.007 ◽

2021 ◽

Author(s):

Hana Pavlu-Pereira ◽

Diana Lousa ◽

Catarina S. Tomé ◽

Cristina Florindo ◽

Maria João Silva ◽

...

Keyword(s):

Pyruvate Dehydrogenase ◽

Pyruvate Dehydrogenase Complex ◽

Functional Impact ◽

Complex Deficiency ◽

Pyruvate Dehydrogenase Complex Deficiency ◽

Dehydrogenase Complex

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Identification of a Gene for the Pyruvate Dehydrogenase E1? Subunit with a Deletion of Four Nucleotides from a Patient with Pyruvate Dehydrogenase Complex Deficiency

Annals of the New York Academy of Sciences ◽

10.1111/j.1749-6632.1989.tb15039.x ◽

1989 ◽

Vol 573 (1 Alpha-Keto Ac) ◽

pp. 458-460 ◽

Author(s):

HITOSHI ENDO ◽

KIYOSHI HASEGAWA ◽

KUNIAKI NARISAWA ◽

KEIYA TADA ◽

YASUO KAGAWA ◽

...

Keyword(s):

Pyruvate Dehydrogenase ◽

Pyruvate Dehydrogenase Complex ◽

Complex Deficiency ◽

Pyruvate Dehydrogenase Complex Deficiency ◽

Dehydrogenase Complex

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A Mutation in the E1α Subunit of Pyruvate Dehydrogenase Associated with Variable Expression of Pyruvate Dehydrogenase Complex Deficiency

Pediatric Research ◽

10.1203/00006450-199208000-00009 ◽

1992 ◽

Vol 32 (2) ◽

pp. 169-174 ◽

Author(s):

Isaiah D Wexler ◽

Sullia G Hemalatha ◽

Te-Cheung Liu ◽

Susan A Berry ◽

Douglas S Kerr ◽

...

Keyword(s):

Pyruvate Dehydrogenase ◽

Pyruvate Dehydrogenase Complex ◽

Variable Expression ◽

Complex Deficiency ◽

Pyruvate Dehydrogenase Complex Deficiency ◽

Dehydrogenase Complex

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Pyruvate dehydrogenase complex deficiency: Biochemical and immunoblot analysis of cultured skin fibroblasts

Annals of Neurology ◽

10.1002/ana.410260610 ◽

1989 ◽

Vol 26 (6) ◽

pp. 746-751 ◽

Author(s):

Susan E. Old ◽

Darryl C. de Vivo

Keyword(s):

Pyruvate Dehydrogenase ◽

Pyruvate Dehydrogenase Complex ◽

Immunoblot Analysis ◽

Skin Fibroblasts ◽

Cultured Skin ◽

Complex Deficiency ◽

Pyruvate Dehydrogenase Complex Deficiency ◽

Dehydrogenase Complex

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Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency

Human Mutation ◽

10.1002/(sici)1098-1004(1996)7:1<46::aid-humu6>3.0.co;2-n ◽

1996 ◽

Vol 7 (1) ◽

pp. 46-51 ◽

Author(s):

Willy Lissens ◽

Linda De Meirleir ◽

Sara Seneca ◽

Chantal Benelli ◽

Cécile Marsac ◽

...

Keyword(s):

Mutation Analysis ◽

Pyruvate Dehydrogenase ◽

Pyruvate Dehydrogenase Complex ◽

Complex Deficiency ◽

Pyruvate Dehydrogenase Complex Deficiency ◽

Dehydrogenase Complex

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Therapeutic potential of dichloroacetate for pyruvate dehydrogenase complex deficiency

Mitochondrion ◽

10.1016/j.mito.2006.04.001 ◽

2006 ◽

Vol 6 (3) ◽

pp. 126-135 ◽

Author(s):

Kristen Berendzen ◽

Douglas W. Theriaque ◽

Jonathan Shuster ◽

Peter W. Stacpoole

Keyword(s):

Pyruvate Dehydrogenase ◽

Therapeutic Potential ◽

Pyruvate Dehydrogenase Complex ◽

Complex Deficiency ◽

Pyruvate Dehydrogenase Complex Deficiency ◽

Dehydrogenase Complex

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Pyruvate Dehydrogenase Complex Deficiency Caused by Ubiquitination and Proteasome-mediated Degradation of the E1β Subunit

Journal of Biological Chemistry ◽

10.1074/jbc.m704748200 ◽

2007 ◽

Vol 283 (1) ◽

pp. 237-243 ◽

Author(s):

Zongchao Han ◽

Li Zhong ◽

Arun Srivastava ◽

Peter W. Stacpoole

Keyword(s):

Pyruvate Dehydrogenase ◽

Pyruvate Dehydrogenase Complex ◽

Complex Deficiency ◽

Pyruvate Dehydrogenase Complex Deficiency ◽

Dehydrogenase Complex

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Effect of pyruvate dehydrogenase complex deficiency on l-lysine production with Corynebacterium glutamicum

Applied Microbiology and Biotechnology ◽

10.1007/s00253-007-0904-1 ◽

2007 ◽

Vol 76 (3) ◽

pp. 615-623 ◽

Author(s):

Bastian Blombach ◽

Mark E. Schreiner ◽

Matthias Moch ◽

Marco Oldiges ◽

Bernhard J. Eikmanns

Keyword(s):

Corynebacterium Glutamicum ◽

Pyruvate Dehydrogenase ◽

Pyruvate Dehydrogenase Complex ◽

Lysine Production ◽

Complex Deficiency ◽

Pyruvate Dehydrogenase Complex Deficiency ◽

Dehydrogenase Complex

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