(Q34215986)

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

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12 February 2020

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

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12 February 2020

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12 February 2020

author name string

A Imbard

1

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12 February 2020

A Boutron

2

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12 February 2020

C Vequaud

3

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12 February 2020

M Zater

4

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12 February 2020

P de Lonlay

5

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12 February 2020

H Ogier de Baulny

6

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12 February 2020

C Barnerias

7

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12 February 2020

C Marsac

9

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12 February 2020

J-M Saudubray

10

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12 February 2020

M Brivet

11

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12 February 2020

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18 August 2011

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12 February 2020

Molecular Genetics and Metabolism

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12 February 2020

104

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12 February 2020

4

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12 February 2020

507-516

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12 February 2020

Molecular biology and biochemistry of pyruvate dehydrogenase complexes.

1 reference

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

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Structural basis for flip-flop action of thiamin pyrophosphate-dependent enzymes revealed by human pyruvate dehydrogenase

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Structural basis for inactivation of the human pyruvate dehydrogenase complex by phosphorylation: role of disordered phosphorylation loops

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Mutations of the E1beta subunit gene (PDHB) in four families with pyruvate dehydrogenase deficiency

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Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

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First characterization of a large deletion of the PDHA 1 gene.

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Mutations and polymorphisms in the pyruvate dehydrogenase E1 alpha gene

1 reference

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Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy

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Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency

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Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency

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Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency

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Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity

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Two silent substitutions in the PDHA1 gene cause exon 5 skipping by disruption of a putative exonic splicing enhancer

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7 January 2021

Mutational study in the PDHA1 gene of 40 patients suspected of pyruvate dehydrogenase complex deficiency

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7 January 2021

Aberrant splicing of exon 6 in the pyruvate dehydrogenase-E1 alpha mRNA linked to a silent mutation in a large family with Leigh's encephalomyelopathy

1 reference

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7 January 2021

A novel Y243S mutation in the pyruvate dehydrogenase El alpha gene subunit: correlation with thiamine pyrophosphate interaction

1 reference

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7 January 2021

Splicing error in E1alpha pyruvate dehydrogenase mRNA caused by novel intronic mutation responsible for lactic acidosis and mental retardation.

1 reference

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7 January 2021

The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis

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7 January 2021

Arginine 302 mutations in the pyruvate dehydrogenase E1alpha subunit gene: identification of further patients and in vitro demonstration of pathogenicity

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7 January 2021

Pyruvate dehydrogenase deficiency: the relation of the E1 alpha mutation to the E1 beta subunit deficiency

1 reference

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7 January 2021

Characterization of the mutations in three patients with pyruvate dehydrogenase E1 alpha deficiency

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7 January 2021

Molecular analysis of abnormal pyruvate dehydrogenase in a patient with thiamine-responsive congenital lactic acidemia

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A large genomic deletion in the PDHX gene caused by the retrotranspositional insertion of a full-length LINE-1 element.

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7 January 2021

First prenatal diagnosis of defects in the HsPDX1 gene encoding protein X, an additional lipoyl-containing subunit of the human pyruvate dehydrogenase complex

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7 January 2021

A new case of pyruvate dehydrogenase deficiency due to a novel mutation in the PDX1 gene

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7 January 2021

A novel gross deletion caused by non-homologous recombination of the PDHX gene in a patient with pyruvate dehydrogenase deficiency

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7 January 2021

Pyruvate dehydrogenase E3 binding protein (protein X) deficiency

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Pyruvate dehydrogenase E2 deficiency: a potentially treatable cause of episodic dystonia

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Pyruvate dehydrogenase deficiency presenting as intermittent isolated acute ataxia

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Pyruvate dehydrogenase phosphatase deficiency: identification of the first mutation in two brothers and restoration of activity by protein complementation

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Pyruvate dehydrogenase phosphatase 1 (PDP1) null mutation produces a lethal infantile phenotype

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Pyruvate dehydrogenase complex deficiency caused by ubiquitination and proteasome-mediated degradation of the E1 subunit.

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Function of several critical amino acids in human pyruvate dehydrogenase revealed by its structure

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Deletion at chromosomal band Xp22.12-Xp22.13 involving PDHA1 in a patient with congenital lactic acidosis.

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Somatic mosaicism for PDHA1 mutation in a male with pyruvate dehydrogenase complex deficiency

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Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency

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A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency

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Novel mutations in dihydrolipoamide dehydrogenase deficiency in two cousins with borderline-normal PDH complex activity

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