Detalhe da pesquisa
1.
Importance to include differential diagnostics for acid sphingomyelinase deficiency (ASMD) in patients suspected to have to Gaucher disease.
Mol Genet Metab
; 139(1): 107563, 2023 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37086570
2.
Diagnostic strategy for females suspected of Fabry disease.
Clin Genet
; 97(4): 655-660, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31860127
3.
Patient preferences in genetic newborn screening for rare diseases: study protocol.
BMJ Open
; 14(4): e081835, 2024 Apr 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-38643010
4.
Structural characterization of human cytochrome P450 2C19: active site differences between P450s 2C8, 2C9, and 2C19.
J Biol Chem
; 287(53): 44581-91, 2012 Dec 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-23118231
5.
Genetic newborn screening and digital technologies: A project protocol based on a dual approach to shorten the rare diseases diagnostic path in Europe.
PLoS One
; 18(11): e0293503, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37992053
6.
Targeted molecular engineering of a family 11 endoxylanase to decrease its sensitivity towards Triticum aestivum endoxylanase inhibitor types.
J Biotechnol
; 130(1): 95-105, 2007 May 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-17445930
7.
Properties of TAXI-type endoxylanase inhibitors.
Biochim Biophys Acta
; 1696(2): 213-21, 2004 Feb 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-14871662
8.
His374 of wheat endoxylanase inhibitor TAXI-I stabilizes complex formation with glycoside hydrolase family 11 endoxylanases.
FEBS J
; 272(22): 5872-82, 2005 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-16279951
9.
Crystallization and preliminary X-ray diffraction study of a cell-wall invertase from Arabidopsis thaliana.
Acta Crystallogr Sect F Struct Biol Cryst Commun
; 61(Pt 8): 766-8, 2005 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-16511152
10.
Identification of structural determinants for inhibition strength and specificity of wheat xylanase inhibitors TAXI-IA and TAXI-IIA.
FEBS J
; 276(14): 3916-27, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19769747
11.
Determinants of cytochrome P450 2C8 substrate binding: structures of complexes with montelukast, troglitazone, felodipine, and 9-cis-retinoic acid.
J Biol Chem
; 283(25): 17227-37, 2008 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-18413310
12.
Structural insight into the altered substrate specificity of human cytochrome P450 2A6 mutants.
Arch Biochem Biophys
; 464(2): 197-206, 2007 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-17540336
13.
Adaptations for the oxidation of polycyclic aromatic hydrocarbons exhibited by the structure of human P450 1A2.
J Biol Chem
; 282(19): 14348-55, 2007 May 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-17311915
14.
Molecular identification of wheat endoxylanase inhibitor TAXI-II and the determinants of its inhibition specificity.
Biochem Biophys Res Commun
; 335(2): 512-22, 2005 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-16084833
15.
Structural basis for inhibition of Aspergillus niger xylanase by triticum aestivum xylanase inhibitor-I.
J Biol Chem
; 279(34): 36022-8, 2004 Aug 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-15166216
16.
Crystallization and preliminary X-ray diffraction study of two complexes of a TAXI-type xylanase inhibitor with glycoside hydrolase family 11 xylanases from Aspergillus niger and Bacillus subtilis.
Acta Crystallogr D Biol Crystallogr
; 60(Pt 3): 555-7, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14993691
17.
Crystallization and preliminary X-ray diffraction study of a wheat (Triticum aestivum L.) TAXI-type endoxylanase inhibitor.
Acta Crystallogr D Biol Crystallogr
; 59(Pt 4): 744-6, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12657799
18.
Crystallization and preliminary X-ray diffraction study of fructan 1-exohydrolase IIa from Cichorium intybus.
Acta Crystallogr D Biol Crystallogr
; 60(Pt 3): 553-4, 2004 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-14993690