A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation
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Neurological aspects of human glycosylation disordersStructural and physico-chemical effects of disease and non-disease nsSNPs on proteinsSialic acids in the brain: gangliosides and polysialic acid in nervous system development, stability, disease, and regenerationHuman genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL)Ganglioside GM3 is essential for the structural integrity and function of cochlear hair cellsGanglioside regulation of AMPA receptor trafficking.miRNA proxy approach reveals hidden functions of glycosylationSialylation regulates brain structure and function.Utilizing multiple in silico analyses to identify putative causal SCN5A variants in Brugada syndrome.The challenge and promise of glycomics.Associations of genetic polymorphisms of Siglecs with human diseases.Human genetic disorders of sphingolipid biosynthesis.The clinical spectrum of inherited diseases involved in the synthesis and remodeling of complex lipids. A tentative overview.Gangliosides of the Vertebrate Nervous SystemBiological roles of glycans.Structures and developmental alterations of N-glycans of zebrafish embryos.SAAFEC: Predicting the Effect of Single Point Mutations on Protein Folding Free Energy Using a Knowledge-Modified MM/PBSA Approach.On human disease-causing amino acid variants: statistical study of sequence and structural patterns.Altered (neo-) lacto series glycolipid biosynthesis impairs α2-6 sialylation on N-glycoproteins in ovarian cancer cells.Localized structural frustration for evaluating the impact of sequence variants.NANS-mediated synthesis of sialic acid is required for brain and skeletal development.Glycosphingolipid metabolic reprogramming drives neural differentiation.Sialyltransferase ST3Gal IV deletion protects against temporal lobe epilepsy.The regulation of tetraspanin 8 gene expression-A potential new mechanism in the pathogenesis of bipolar disorder.Abnormal Sphingolipid World in Inflammation Specific for Lysosomal Storage Diseases and Skin Disorders.Early growth and development impairments in patients with ganglioside GM3 synthase deficiency.The regulation of ER export and Golgi retention of ST3Gal5 (GM3/GM4 synthase) and B4GalNAcT1 (GM2/GD2/GA2 synthase) by arginine/lysine-based motif adjacent to the transmembrane domain.Neuropathic pain in a Fabry disease rat model.Dissecting PUGNAc-mediated inhibition of the pro-survival action of insulin.Systems glycomics of adult zebrafish identifies organ-specific sialylation and glycosylation patternsAdvances in Human Biology: Combining Genetics and Molecular Biophysics to Pave the Way for Personalized Diagnostics and Medicine
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P2860
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 10 September 2013
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A mutation in a ganglioside bi ...... and glycoprotein glycosylation
@en
A mutation in a ganglioside bi ...... nd glycoprotein glycosylation.
@nl
type
label
A mutation in a ganglioside bi ...... and glycoprotein glycosylation
@en
A mutation in a ganglioside bi ...... nd glycoprotein glycosylation.
@nl
prefLabel
A mutation in a ganglioside bi ...... and glycoprotein glycosylation
@en
A mutation in a ganglioside bi ...... nd glycoprotein glycosylation.
@nl
P2093
P2860
P356
P1476
A mutation in a ganglioside bi ...... and glycoprotein glycosylation
@en
P2093
Alka Chaubey
Ayla Pittman
Charles E Schwartz
Chin-Fu Chen
Emil Alexov
Frank Bartel
Heather Flanagan-Steet
Luigi Boccuto
Marharyta Petukh
Michael Tiemeyer
P2860
P304
P356
10.1093/HMG/DDT434
P577
2013-09-10T00:00:00Z