Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis (Q45345293)

13 December 2017

title

Mutations in SLC35A3 cause autism spectrum disorder, epilepsy and arthrogryposis (English)

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13 December 2017

main subject

autism spectrum disorder

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13 June 2020

Domenico Garozzo

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13 June 2020

author name string

Angel Ashikov

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13 June 2020

Chaim Jalas

3

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13 June 2020

Luisa Sturiale

4

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13 June 2020

Avraham Shaag

5

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13 June 2020

Anastasia Fedick

6

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13 June 2020

Nathan R Treff

7

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13 June 2020

Rita Gerardy-Schahn

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13 June 2020

Orly Elpeleg

10

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13 June 2020

language of work or name

English

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publication date

12 September 2013

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Journal of Medical Genetics

13 December 2017

published in

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13 June 2020

volume

50

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13 June 2020

issue

11

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13 June 2020

page(s)

733-739

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Prevalence of autism spectrum disorders in a total population sample

13 June 2020

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Genetic Heritability and Shared Environmental Factors Among Twin Pairs With Autism

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Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation

21 January 2018

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Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism

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Protein interactome reveals converging molecular pathways among autism disorders

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Deleterious mutation in the mitochondrial arginyl-transfer RNA synthetase gene is associated with pontocerebellar hypoplasia

21 January 2018

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The human solute carrier gene SLC35B4 encodes a bifunctional nucleotide sugar transporter with specificity for UDP-xylose and UDP-N-acetylglucosamine

21 January 2018

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Mass spectrometry in the characterization of human genetic N-glycosylation defects

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The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation

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MutationTaster evaluates disease-causing potential of sequence alterations

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Hereditary sensory autonomic neuropathy caused by a mutation in dystonin.

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Developmental diseases caused by impaired nucleotide sugar transporters

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Pre- and post-Golgi translocation of glucosylceramide in glycosphingolipid synthesis.

21 January 2018

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Molecular cloning and functional expression of the human Golgi UDP-N-acetylglucosamine transporter

21 January 2018

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Tissue-specific mRNA expression profiles of human solute carrier 35 transporters

21 January 2018

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Molecular cloning and characterization of a human multisubstrate specific nucleotide-sugar transporter homologous to Drosophila fringe connection

21 January 2018

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Identification and characterization of human Golgi nucleotide sugar transporter SLC35D2, a novel member of the SLC35 nucleotide sugar transporter family

21 January 2018

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Molecular characterization of human UDP-glucuronic acid/UDP-N-acetylgalactosamine transporter, a novel nucleotide sugar transporter with dual substrate specificity

21 January 2018

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Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases

21 January 2018

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Gene expression profiling, chromosome assignment and mutational analysis of the porcine Golgi-resident UDP-N-acetylglucosamine transporter SLC35A3.

21 January 2018

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UDP-N-acetylglucosamine transporter (SLC35A3) regulates biosynthesis of highly branched N-glycans and keratan sulfate.

21 January 2018

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Complex N-glycan number and degree of branching cooperate to regulate cell proliferation and differentiation.

21 January 2018

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UDP-GlcNAc concentration is an important factor in the biosynthesis of beta1,6-branched oligosaccharides: regulation based on the kinetic properties of N-acetylglucosaminyltransferase V.

21 January 2018

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lunatic fringe is an essential mediator of somite segmentation and patterning

21 January 2018

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A missense mutation in the bovine SLC35A3 gene, encoding a UDP-N-acetylglucosamine transporter, causes complex vertebral malformation

21 January 2018

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Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

21 January 2018

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10.1136/JMEDGENET-2013-101753

21 January 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24031089%20AND%20SRC:MED&resulttype=core&format=json

13 June 2020

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