Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria (Q28118700)

GOA release 2020-03-11

FAD binding

1 reference

Molecular Genetics and Metabolism

GOA release 2020-03-11

1 reference

D. S. Froese

1

1 reference

4 January 2017

J. Zhang

series ordinal

2

1 reference

4 January 2017

S. Healy

series ordinal

3

1 reference

4 January 2017

R. A. Gravel

series ordinal

4

1 reference

4 January 2017

1 December 2009

1 reference

4 January 2017

1 reference

4 January 2017

98

1 reference

4 January 2017

338–343

1 reference

4 January 2017

4

1 reference

4 January 2017

Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Late-onset cobalamin-C disorder: a challenging diagnosis.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC).

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Decyanation of vitamin B12 by a trafficking chaperone

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Processing of alkylcobalamins in mammalian cells: A role for the MMACHC (cblC) gene product

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Crystal structure of human carbonic anhydrase-related protein VIII reveals the basis for catalytic silencing

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Role of the dimethylbenzimidazole tail in the reaction catalyzed by coenzyme B12-dependent methylmalonyl-CoA mutase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Fluorescence quenching by nucleotides of the plasma membrane H+-ATPase from Kluyveromyces lactis

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Effect of vitamin B12 treatment on haptocorrin

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Vitamin B12 Concentrations in Human Tissues

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

How coenzyme B12 radicals are generated: the crystal structure of methylmalonyl-coenzyme A mutase at 2 A resolution

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Importance of the histidine ligand to coenzyme B12 in the reaction catalyzed by methylmalonyl-CoA mutase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Redox compartmentalization in eukaryotic cells

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Human methionine synthase reductase is a molecular chaperone for human methionine synthase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

B12 trafficking in mammals: A for coenzyme escort service

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Recognition of two intracellular cobalamin binding proteins and their identification as methylmalonyl-CoA mutase and methionine synthetase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014

Intracellular binding of radioactive hydroxocobalamin to cobalamin-dependent apoenzymes in rat liver

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.07.014