Detalhe da pesquisa
1.
Isomerization of BRCA1-BARD1 promotes replication fork protection.
Nature
; 571(7766): 521-527, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31270457
2.
The complex machinery of human cobalamin metabolism.
J Inherit Metab Dis
; 46(3): 406-420, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36680553
3.
Structural basis of homologous recombination.
Cell Mol Life Sci
; 77(1): 3-18, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-31748913
4.
Molecular basis of classic galactosemia from the structure of human galactose 1-phosphate uridylyltransferase.
Hum Mol Genet
; 25(11): 2234-2244, 2016 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27005423
5.
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
6.
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
7.
Inter-domain communication of human cystathionine ß-synthase: structural basis of S-adenosyl-L-methionine activation.
J Biol Chem
; 289(52): 36018-30, 2014 Dec 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-25336647
8.
Misfolding of galactose 1-phosphate uridylyltransferase can result in type I galactosemia.
Biochim Biophys Acta
; 1832(8): 1279-93, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23583749
9.
Dynamic inter-domain transformations mediate the allosteric regulation of human 5, 10-methylenetetrahydrofolate reductase.
Nat Commun
; 15(1): 3248, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38622112
10.
Architecture and regulation of filamentous human cystathionine beta-synthase.
Nat Commun
; 15(1): 2931, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38575566
11.
Altered cofactor binding affects stability and activity of human UDP-galactose 4'-epimerase: implications for type III galactosemia.
Biochim Biophys Acta
; 1822(10): 1516-26, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22613355
12.
Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Eur J Hum Genet
; 31(10): 1190-1194, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37558808
13.
Molecular basis for the regulation of human glycogen synthase by phosphorylation and glucose-6-phosphate.
Nat Struct Mol Biol
; 29(7): 628-638, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35835870
14.
Structural and molecular biology of type I galactosemia: disease-associated mutations.
IUBMB Life
; 63(11): 949-54, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21960482
15.
The structural and molecular biology of type I galactosemia: Enzymology of galactose 1-phosphate uridylyltransferase.
IUBMB Life
; 63(9): 694-700, 2011 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-21793161
16.
Galactosemia: Towards Pharmacological Chaperones.
J Pers Med
; 11(2)2021 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-33562227
17.
Crystal structure and interaction studies of human DHTKD1 provide insight into a mitochondrial megacomplex in lysine catabolism.
IUCrJ
; 7(Pt 4): 693-706, 2020 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32695416
18.
Structural basis for ligand-dependent dimerization of phenylalanine hydroxylase regulatory domain.
Sci Rep
; 6: 23748, 2016 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27049649
19.
In silico prediction of the effects of mutations in the human UDP-galactose 4'-epimerase gene: towards a predictive framework for type III galactosemia.
Gene
; 524(2): 95-104, 2013 Jul 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-23644136
20.
The molecular dynamics of Trypanosoma brucei UDP-galactose 4'-epimerase: a drug target for African sleeping sickness.
Chem Biol Drug Des
; 80(2): 173-81, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22487100