Detalhe da pesquisa
1.
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.
J Biol Chem
; 292(28): 11980-11991, 2017 07 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-28572511
2.
Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.
J Inherit Metab Dis
; 40(2): 297-306, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-27743313
3.
Splice-shifting oligonucleotide (SSO) mediated blocking of an exonic splicing enhancer (ESE) created by the prevalent c.903+469T>C MTRR mutation corrects splicing and restores enzyme activity in patient cells.
Nucleic Acids Res
; 43(9): 4627-39, 2015 May 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-25878036
4.
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
Hum Mutat
; 37(5): 427-38, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26872964
5.
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1.
Am J Hum Genet
; 93(3): 506-14, 2013 Sep 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24011988
6.
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.
J Inherit Metab Dis
; 39(1): 115-24, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26025547
7.
Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients.
Hum Mutat
; 36(6): 611-21, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25736335
8.
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.
Hum Mutat
; 35(12): 1449-58, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25125334
9.
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.
Hum Mol Genet
; 21(6): 1410-8, 2012 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22156578
10.
Characterization of functional domains of the cblD (MMADHC) gene product.
J Inherit Metab Dis
; 37(5): 841-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24722857
11.
A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.
Mol Genet Metab
; 105(4): 602-6, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22264772
12.
Gene identification for the cblD defect of vitamin B12 metabolism.
N Engl J Med
; 358(14): 1454-64, 2008 Apr 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-18385497
13.
LMBRD1: the gene for the cblF defect of vitamin B12 metabolism.
J Inherit Metab Dis
; 34(1): 121-6, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20446115
14.
Cryptic exon activation by disruption of exon splice enhancer: novel mechanism causing 3-methylcrotonyl-CoA carboxylase deficiency.
J Biol Chem
; 284(42): 28953-7, 2009 Oct 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-19706617
15.
A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.
J Inherit Metab Dis
; 33(1): 17-24, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-20127417
16.
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Hum Mutat
; 30(7): 1072-81, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19370762
17.
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.
Biochim Biophys Acta Mol Basis Dis
; 1865(6): 1265-1272, 2019 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30682498
18.
Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition.
Nat Commun
; 9(1): 2261, 2018 06 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29891918
19.
3-Methylcrotonyl-CoA carboxylase deficiency: mutation analysis in 28 probands, 9 symptomatic and 19 detected by newborn screening.
Hum Mutat
; 26(2): 164, 2005 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16010683
20.
cblE type of homocystinuria due to methionine synthase reductase deficiency: functional correction by minigene expression.
Hum Mutat
; 25(3): 239-47, 2005 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-15714522