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.
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.
Hum Mutat
; 38(8): 988-1001, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28497574
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.
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.
Hum Mutat
; 37(8): 745-54, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27167370
5.
Identification of small molecule allosteric modulators of 5,10-methylenetetrahydrofolate reductase (MTHFR) by targeting its unique regulatory domain.
Biochimie
; 183: 100-107, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33476699
6.
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
7.
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