Similar articles for PMID: 23842455

Year	Number of Results
1999	1
2000	2
2001	2
2002	1
2003	3
2005	2
2006	1
2009	2
2010	3
2011	3
2012	11
2013	11
2014	12
2015	9
2016	3
2017	9
2018	9
2019	15
2020	9
2021	7
2022	4
2024	0

1

Mutations in STT3A and STT3B cause two congenital disorders of glycosylation.

Shrimal S, Ng BG, Losfeld ME, Gilmore R, Freeze HH. Shrimal S, et al. Hum Mol Genet. 2013 Nov 15;22(22):4638-45. doi: 10.1093/hmg/ddt312. Epub 2013 Jul 10. Hum Mol Genet. 2013. PMID: 23842455 Free PMC article.

2

Proteome and Glycoproteome Analyses Reveal the Protein N-Linked Glycosylation Specificity of STT3A and STT3B.

Wen P, Chen J, Zuo C, Gao X, Fujita M, Yang G. Wen P, et al. Cells. 2022 Sep 6;11(18):2775. doi: 10.3390/cells11182775. Cells. 2022. PMID: 36139350 Free PMC article.

3

A combination of two novels homozygous FCSK variants cause disorder of glycosylation with defective fucosylation: New patient and literature review.

Manoochehri J, Kamal N, Khamirani HJ, Zoghi S, Haghighi MF, Goodarzi HR, Bagher Tabei SM. Manoochehri J, et al. Eur J Med Genet. 2022 Aug;65(8):104535. doi: 10.1016/j.ejmg.2022.104535. Epub 2022 Jun 16. Eur J Med Genet. 2022. PMID: 35718084 Review.

4

Knockdown of Oligosaccharyltransferase Subunit Ribophorin 1 Induces Endoplasmic-Reticulum-Stress-Dependent Cell Apoptosis in Breast Cancer.

Ding J, Xu J, Deng Q, Ma W, Zhang R, He X, Liu S, Zhang L. Ding J, et al. Front Oncol. 2021 Oct 27;11:722624. doi: 10.3389/fonc.2021.722624. eCollection 2021. Front Oncol. 2021. PMID: 34778038 Free PMC article.

5

A cytosolic reductase pathway is required for efficient N-glycosylation of an STT3B-dependent acceptor site.

van Lith M, Pringle MA, Fleming B, Gaeta G, Im J, Gilmore R, Bulleid NJ. van Lith M, et al. J Cell Sci. 2021 Nov 15;134(22):jcs259340. doi: 10.1242/jcs.259340. Epub 2021 Nov 25. J Cell Sci. 2021. PMID: 34734627 Free PMC article.

6

Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.

Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupré T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodríguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. Wilson MP, et al. Am J Hum Genet. 2021 Nov 4;108(11):2130-2144. doi: 10.1016/j.ajhg.2021.09.012. Epub 2021 Oct 14. Am J Hum Genet. 2021. PMID: 34653363 Free PMC article.

7

Correspondence on "Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG".

Lugli L, Pollazzon M, Bigoni S, Caraffi SG, Ferlini A, Ferri L, Morrone A, Calabrese O, Iughetti L, Garavelli L, Berardi A. Lugli L, et al. Am J Med Genet A. 2022 Jan;188(1):382-383. doi: 10.1002/ajmg.a.62511. Epub 2021 Sep 25. Am J Med Genet A. 2022. PMID: 34562059 No abstract available.

8

The second DDOST-CDG patient with lactose intolerance, developmental delay, and situs inversus totalis.

Pi S, Gong J, Xiao W, Xiao B, Mao X, Long H. Pi S, et al. J Hum Genet. 2022 Feb;67(2):103-106. doi: 10.1038/s10038-021-00974-2. Epub 2021 Aug 31. J Hum Genet. 2022. PMID: 34462534

9

ALG13 X-linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes.

Alsharhan H, He M, Edmondson AC, Daniel EJP, Chen J, Donald T, Bakhtiari S, Amor DJ, Jones EA, Vassallo G, Vincent M, Cogné B, Deb W, Werners AH, Jin SC, Bilguvar K, Christodoulou J, Webster RI, Yearwood KR, Ng BG, Freeze HH, Kruer MC, Li D, Raymond KM, Bhoj EJ, Sobering AK. Alsharhan H, et al. J Inherit Metab Dis. 2021 Jul;44(4):1001-1012. doi: 10.1002/jimd.12378. Epub 2021 Mar 26. J Inherit Metab Dis. 2021. PMID: 33734437 Free PMC article.

10

Congenital disorders of glycosylation type IIb with MOGS mutations cause early infantile epileptic encephalopathy, dysmorphic features, and hepatic dysfunction.

Anzai R, Tsuji M, Yamashita S, Wada Y, Okamoto N, Saitsu H, Matsumoto N, Goto T. Anzai R, et al. Brain Dev. 2021 Mar;43(3):402-410. doi: 10.1016/j.braindev.2020.10.013. Epub 2020 Nov 28. Brain Dev. 2021. PMID: 33261925 Free article.

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