(Q40280529)

English

Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria

scientific article published on 11 May 2006

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scholarly article

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Europe PubMed Central

PubMed publication ID

19 September 2017

Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria (English)

1 reference

Europe PubMed Central

PubMed publication ID

19 September 2017

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author name string

C Melissa Dobson

1

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19 September 2017

Abigail Gradinger

2

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19 September 2017

Nicola Longo

3

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Europe PubMed Central

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19 September 2017

Xuchu Wu

4

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19 September 2017

Daniel Leclerc

5

1 reference

Europe PubMed Central

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19 September 2017

Jordan Lerner-Ellis

6

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19 September 2017

Melissa Lemieux

7

1 reference

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19 September 2017

Caroline Belair

8

1 reference

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19 September 2017

David Watkins

9

1 reference

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19 September 2017

David S Rosenblatt

10

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19 September 2017

Roy A Gravel

11

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19 September 2017

publication date

11 May 2006

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19 September 2017

Molecular Genetics and Metabolism

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19 September 2017

88

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19 September 2017

4

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19 September 2017

327-333

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Europe PubMed Central

PubMed publication ID

19 September 2017

Stereospecific acyl transfers on the erythromycin-producing polyketide synthase

1 reference

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Glyoxylate regeneration pathway in the methylotroph Methylobacterium extorquens AM1

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Autotrophic CO(2) fixation by Chloroflexus aurantiacus: study of glyoxylate formation and assimilation via the 3-hydroxypropionate cycle

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Crystal Structure of Methylmalonyl-Coenzyme A Epimerase from P. shermanii

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Metabolism of methylmalonic acid in rats. Is methylmalonyl-coenzyme a racemase deficiency symptomatic in man?

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7 January 2021

Identification of the human methylmalonyl-CoA racemase gene based on the analysis of prokaryotic gene arrangements. Implications for decoding the human genome

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7 January 2021

DL-methylmalonyl-CoA racemase from rat liver

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Functional analysis of the methylmalonyl-CoA epimerase from Caenorhabditis elegans

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Purification and partial characterization of the Pyrococcus horikoshii methylmalonyl-CoA epimerase

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Expression, crystallization and preliminary characterization of methylmalonyl coenzyme A epimerase fromPropionibacterium shermanii

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7 January 2021

Proton transfer in methylmalonyl-CoA epimerase from Propionibacterium shermanii. The reaction of (2R)-methylmalonyl-CoA in tritiated water

1 reference

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7 January 2021

Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements

1 reference

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Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH)

1 reference

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Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism

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The management and outcome of propionic and methylmalonic acidaemia

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Asymptomatic propionyl CoA carboxylase deficiency in a 13-year-old girl

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Two cases of benign methylmalonic aciduria detected during a pilot study of neonatal urine screening

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Homocysteine and methylmalonic acid in diagnosis and risk assessment from infancy to adolescence

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Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria

1 reference

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7 January 2021

Crystal structure of methylmalonyl-coenzyme A epimerase from P. shermanii: a novel enzymatic function on an ancient metal binding scaffold

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2006.03.009

7 January 2021

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10.1016/J.YMGME.2006.03.009

1 reference

Europe PubMed Central

PubMed publication ID

19 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

19 September 2017

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