(Q34405099)

2 August 2017

Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants (English)

1 reference

2 August 2017

methylmalonic acidemia

1 reference

based on heuristic

inferred from title

author name string

Maria Angeles Martínez

1

1 reference

2 August 2017

Ana Rincón

2

1 reference

2 August 2017

Lourdes R Desviat

3

1 reference

2 August 2017

Begoña Merinero

4

1 reference

2 August 2017

Magdalena Ugarte

5

1 reference

2 August 2017

Belén Pérez

6

1 reference

2 August 2017

22 January 2005

1 reference

Molecular Genetics and Metabolism

2 August 2017

1 reference

2 August 2017

84

1 reference

2 August 2017

4

1 reference

2 August 2017

317-325

1 reference

Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia

2 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Structure of the human methylmalonyl-CoA mutase (MUT) locus

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Cloning of full-length methylmalonyl-CoA mutase from a cDNA library using the polymerase chain reaction

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

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.2004.11.011

How a protein binds B12: A 3.0 A X-ray structure of B12-binding domains of methionine synthase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Conformational changes on substrate binding to methylmalonyl CoA mutase and new insights into the free radical mechanism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

MeaB is a component of the methylmalonyl-CoA mutase complex required for protection of the enzyme from inactivation.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

The structural basis for methylmalonic aciduria. The crystal structure of archaeal ATP:cobalamin adenosyltransferase

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

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

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Mutations inmut methylmalonic acidemia: Clinical and enzymatic correlations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Molecular and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

A rapid procedure for extracting genomic DNA from leukocytes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Disease-causing mutations in the human genome

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Cellular and viral splicing factors can modify the splicing pattern of CFTR transcripts carrying splicing mutations

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Splicing regulation as a potential genetic modifier

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Detection of a normally rare transcript in propionic acidemia patients with mRNA destabilizing mutations in the PCCA gene

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Mutation spectrum of the PCCA and PCCB genes in Japanese patients with propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Nutritional modulation of gene expression and homocysteine utilization by vitamin B12.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

Posttranscriptional regulation of mammalian methionine synthase by B12.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

A common mutation among blacks with mut- methylmalonic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2004.11.011

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1016/J.YMGME.2004.11.011

1 reference

2 August 2017

1 reference