(Q34320251)

1 August 2017

title

Mutations in the gene for the E1beta subunit: a novel cause of pyruvate dehydrogenase deficiency (English)

1 reference

1 August 2017

Ivan I Boubriak

3

0 references

author name string

Ruth M Brown

1

1 reference

1 August 2017

Rosemary A Head

2

1 reference

1 August 2017

James V Leonard

4

1 reference

1 August 2017

Neil H Thomas

5

1 reference

1 August 2017

Garry K Brown

6

1 reference

1 August 2017

publication date

11 May 2004

1 reference

1 August 2017

1 reference

1 August 2017

volume

115

1 reference

1 August 2017

issue

2

1 reference

1 August 2017

page(s)

123-127

1 reference

https://scigraph.springernature.com/pub.10.1007/s00439-004-1124-8

1 August 2017

exact match

0 references

cites work

Role of the heat shock response and molecular chaperones in oncogenesis and cell death

1 reference

12 December 2020

Congenital lacticacidemia caused by lipoamide dehydrogenase deficiency with favorable outcome

1 reference

12 December 2020

Molecular basis of lipoamide dehydrogenase deficiency in Ashkenazi Jews

1 reference

12 December 2020

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

1 reference

12 December 2020

Transfection screening for primary defects in the pyruvate dehydrogenase E1alpha subunit gene

1 reference

12 December 2020

Pyruvate dehydrogenase deficiency

1 reference

12 December 2020

Biochemical basis of type IB (E1beta ) mutations in maple syrup urine disease. A prevalent allele in patients from the Druze kindred in Israel

1 reference

12 December 2020

Maple syrup urine disease: identification and carrier-frequency determination of a novel founder mutation in the Ashkenazi Jewish population

1 reference

12 December 2020

Immunochemical analysis of normal and mutant forms of human pyruvate dehydrogenase

1 reference

12 December 2020

Mutations in PDX1, the human lipoyl-containing component X of the pyruvate dehydrogenase-complex gene on chromosome 11p1, in congenital lactic acidosis

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Isolated and combined deficiencies of the alpha-keto acid dehydrogenase complexes

1 reference

12 December 2020

Molecular biology and biochemistry of pyruvate dehydrogenase complexes.

1 reference

12 December 2020

Pyruvate dehydrogenase E3 binding protein deficiency

1 reference

12 December 2020

Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders

1 reference

12 December 2020

Gene preference in maple syrup urine disease

1 reference

12 December 2020

Immunocapture and microplate-based activity measurement of mammalian pyruvate dehydrogenase complex

1 reference

12 December 2020

10.1007/S00439-004-1124-8

Identifiers

DOI

1 reference

Dimensions Publication ID

1 August 2017

1046993037

0 references

1 reference