Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal -dystroglycan O-mannosylation, independent from sialic acid
出版年份 2015 全文链接
标题
Disease mutations in CMP-sialic acid transporter SLC35A1 result in abnormal -dystroglycan O-mannosylation, independent from sialic acid
作者
关键词
-
出版物
HUMAN MOLECULAR GENETICS
Volume 24, Issue 8, Pages 2241-2246
出版商
Oxford University Press (OUP)
发表日期
2015-01-01
DOI
10.1093/hmg/ddu742
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Characterisation of CMP-Sialic Acid Transporter Substrate Recognition
- (2013) Andrea Maggioni et al. CHEMBIOCHEM
- Targeting Aberrant Sialylation in Cancer Cells Using a Fluorinated Sialic Acid Analog Impairs Adhesion, Migration, and In Vivo Tumor Growth
- (2013) C. Bull et al. MOLECULAR CANCER THERAPEUTICS
- Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy
- (2013) Amy C. Yang et al. MOLECULAR GENETICS AND METABOLISM
- Intellectual disability and bleeding diathesis due to deficient CMP-sialic acid transport
- (2013) M. Mohamed et al. NEUROLOGY
- Deciphering the Glycosylome of Dystroglycanopathies Using Haploid Screens for Lassa Virus Entry
- (2013) L. T. Jae et al. SCIENCE
- DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
- (2012) Rita Barone et al. ANNALS OF NEUROLOGY
- Global metabolic inhibitors of sialyl- and fucosyltransferases remodel the glycome
- (2012) Cory D Rillahan et al. Nature Chemical Biology
- Dystroglycan Organizes Axon Guidance Cue Localization and Axonal Pathfinding
- (2012) Kevin M. Wright et al. NEURON
- Ebola virus entry requires the cholesterol transporter Niemann–Pick C1
- (2011) Jan E. Carette et al. NATURE
- Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation
- (2011) Dirk J. Lefeber et al. PLoS Genetics
- O-Mannosyl Phosphorylation of Alpha-Dystroglycan Is Required for Laminin Binding
- (2010) T. Yoshida-Moriguchi et al. SCIENCE
- Deficiency of Dol-P-Man Synthase Subunit DPM3 Bridges the Congenital Disorders of Glycosylation with the Dystroglycanopathies
- (2009) Dirk J. Lefeber et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Analysis of CMP-sialic acid transporter-like proteins in plants
- (2009) Shou Takashima et al. PHYTOCHEMISTRY
- A CMP-sialic acid transporter cloned from Arabidopsis thaliana
- (2008) Hans Bakker et al. CARBOHYDRATE RESEARCH
- Pikachurin, a dystroglycan ligand, is essential for photoreceptor ribbon synapse formation
- (2008) Shigeru Sato et al. NATURE NEUROSCIENCE
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started