Detalhe da pesquisa
1.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Am J Hum Genet
; 108(11): 2130-2144, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34653363
2.
Maximizing Glycoproteomics Results through an Integrated Parallel Accumulation Serial Fragmentation Workflow.
Anal Chem
; 2024 May 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-38776126
3.
N-linked glycosylation of the M-protein variable region: glycoproteogenomics reveals a new layer of personalized complexity in multiple myeloma.
Clin Chem Lab Med
; 2024 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38332688
4.
Glycoproteomics in Cerebrospinal Fluid Reveals Brain-Specific Glycosylation Changes.
Int J Mol Sci
; 24(3)2023 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768261
5.
Loss of the AMD-associated B3GLCT gene affects glycosylation of TSP1 without impairing secretion in retinal pigment epithelial cells.
Exp Eye Res
; 213: 108798, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34695439
6.
In Silico Evaluation of the Binding Site of Fucosyltransferaseâ 8 and First Attempts to Synthesize an Inhibitor with Drug-Like Properties.
Chembiochem
; 21(13): 1923-1931, 2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31194280
7.
Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability.
J Hum Genet
; 65(9): 743-750, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32313197
8.
Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation.
Int J Mol Sci
; 21(20)2020 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33076454
9.
Quantitation of Glycopeptides by ESI/MS - size of the peptide part strongly affects the relative proportions and allows discovery of new glycan compositions of Ceruloplasmin.
Glycoconj J
; 36(1): 13-26, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30612270
10.
Intact Human Alpha-Acid Glycoprotein Analyzed by ESI-qTOF-MS: Simultaneous Determination of the Glycan Composition of Multiple Glycosylation Sites.
J Proteome Res
; 17(11): 3693-3703, 2018 11 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30295034
11.
Glycan analysis: scope and limitations of different techniques--a case for integrated use of LC-MS(/MS) and NMR techniques.
Anal Bioanal Chem
; 405(23): 7291-305, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23852147
12.
Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.
Nat Commun
; 12(1): 6227, 2021 10 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-34711829
13.
Simultaneous characterization of SNPs and N-glycans from multiple glycosylation sites of intact ß-2-glycoprotein-1 (B2GP1) by ESI-qTOF-MS.
Biochim Biophys Acta Proteins Proteom
; 1867(6): 556-564, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30904681