Detalles de la búsqueda
1.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med;
26(6): 101104, 2024 Feb 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-38411040
2.
Large-scale phosphomimetic screening identifies phospho-modulated motif-based protein interactions.
Mol Syst Biol;
19(7): e11164, 2023 07 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-37219487
3.
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
N Engl J Med;
380(15): 1433-1441, 2019 04 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30970188
4.
Key interactions in the trimolecular complex consisting of the rheumatoid arthritis-associated DRB1*04:01 molecule, the major glycosylated collagen II peptide and the T-cell receptor.
Ann Rheum Dis;
81(4): 480-489, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35027402
5.
ß-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Mol Genet Metab;
136(3): 177-185, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35151535
6.
Discovery of an Allosteric Ligand Binding Site in SMYD3 Lysine Methyltransferase.
Chembiochem;
22(9): 1597-1608, 2021 05 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-33400854
7.
Crystal structure and pH-dependent allosteric regulation of human ß-ureidopropionase, an enzyme involved in anticancer drug metabolism.
Biochem J;
475(14): 2395-2416, 2018 07 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-29976570
8.
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
Hum Mutat;
39(7): 947-953, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29691939
9.
Directed Evolution of Alcohol Dehydrogenase for Improved Stereoselective Redox Transformations of 1-Phenylethane-1,2-diol and Its Corresponding Acyloin.
Biochemistry;
57(7): 1059-1062, 2018 02 20.
Artículo
en Inglés
| MEDLINE | ID: mdl-29384657
10.
Structural and Mutagenesis Studies of the Thiamine-Dependent, Ketone-Accepting YerE from Pseudomonas protegens.
Chembiochem;
19(21): 2283-2292, 2018 11 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-30101542
11.
Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.
Biochim Biophys Acta;
1862(4): 754-762, 2016 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-26804652
12.
Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.
Biochim Biophys Acta Mol Basis Dis;
1863(3): 721-730, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28024938
13.
Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.
Mol Genet Metab;
122(4): 216-222, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29054612
14.
Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
Am J Med Genet A;
173(10): 2736-2742, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28742244
15.
Positional identification of RT1-B (HLA-DQ) as susceptibility locus for autoimmune arthritis.
J Immunol;
194(6): 2539-50, 2015 Mar 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-25672758
16.
Laboratory-Evolved Enzymes Provide Snapshots of the Development of Enantioconvergence in Enzyme-Catalyzed Epoxide Hydrolysis.
Chembiochem;
17(18): 1693-7, 2016 09 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-27383542
17.
Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.
Int J Mol Sci;
17(1)2016 Jan 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-26771602
18.
Hydroxyethylene isosteres introduced in type II collagen fragments substantially alter the structure and dynamics of class II MHC A(q)/glycopeptide complexes.
Org Biomol Chem;
13(22): 6203-16, 2015 Jun 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-25960177
19.
Structural and functional characterization of ochratoxinase, a novel mycotoxin-degrading enzyme.
Biochem J;
462(3): 441-52, 2014 Sep 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-24947135
20.
Clinical, biochemical and molecular analysis of 13 Japanese patients with ß-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
J Inherit Metab Dis;
37(5): 801-12, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24526388