Detalhe da pesquisa
1.
Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria.
Hum Mol Genet
; 32(17): 2717-2734, 2023 08 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-37369025
2.
Shifting landscapes of human MTHFR missense-variant effects.
Am J Hum Genet
; 108(7): 1283-1300, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34214447
3.
Cellular and computational models reveal environmental and metabolic interactions in MMUT-type methylmalonic aciduria.
J Inherit Metab Dis
; 46(3): 421-435, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36371683
4.
The complex machinery of human cobalamin metabolism.
J Inherit Metab Dis
; 46(3): 406-420, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36680553
5.
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
Hum Genet
; 141(7): 1253-1267, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-34796408
6.
Mitochondrial disease, mitophagy, and cellular distress in methylmalonic acidemia.
Cell Mol Life Sci
; 78(21-22): 6851-6867, 2021 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-34524466
7.
Biochemical analysis of patients with mutations in MTHFD1 and a diagnosis of methylenetetrahydrofolate dehydrogenase 1 deficiency.
Mol Genet Metab
; 130(3): 179-182, 2020 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-32414565
8.
Vitamin B12 , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation.
J Inherit Metab Dis
; 42(4): 673-685, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30693532
9.
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
J Inherit Metab Dis
; 42(2): 333-352, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30773687
10.
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
11.
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
12.
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
J Biol Chem
; 291(39): 20563-73, 2016 09 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-27519416
13.
Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
Hum Mol Genet
; 24(20): 5667-76, 2015 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26199317
14.
Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.
Biochim Biophys Acta Mol Basis Dis
; 1863(1): 103-112, 2017 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-27771510
15.
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
16.
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
17.
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.
Hum Mutat
; 37(5): 427-38, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-26872964
18.
Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.
J Biol Chem
; 290(49): 29167-77, 2015 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26483544
19.
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
20.
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