Article

SLC35A2 loss of function variants affect glycomic signatures, neuronal fate, and network dynamics

2024-12-27

Abstract excerpt

SLC35A2 encodes a UDP-galactose transporter essential for glycosylation of proteins and galactosylation of lipids and glycosaminoglycans. Germline genetic SLC35A2 variants have been identified in congenital disorders of glycosylation and somatic SLC35A2 variants have been linked to intractable epilepsy associated with malformations of cortical development. However, the functional consequences of these pathogenic...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 922616a6-6463-5368-a4cb-b4094618b7f6
DOI: 10.1101/2024.12.27.630524

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

SLC35A2 loss of function variants affect glycomic signatures, neuronal fate, and network dynamicsDOI 10.1101/2024.12.27.630524Read

SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamicsSemantic proximity Read

ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDGSemantic proximity Read

Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firingSemantic proximity Read

Slc35a2 mosaic knockout impacts cortical development, dendritic arborisation, and neuronal firing in the developing brainSemantic proximity Read

Disrupted O-GalNAc glycosylation as a mechanism and biomarker of <i>SLC35A2</i> -associated epilepsySemantic proximity Read

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathy.Semantic proximity Read

<i>DLG2</i> knockout reveals neurogenic transcriptional programs underlying neuropsychiatric disorders and cognitionSemantic proximity Read

Neuronal loss of <i>Galnt2</i> Impairs O-glycosylation and Leads to Neurobehavioral Deficits Mimicking GALNT2-CDGSemantic proximity Read

<i>ST3GAL3</i> loss-of-function disrupts synaptic integrity and excitatory/inhibitory cortical dynamicsSemantic proximity Read

Sialylated Gangliosides are Required for Plasma Membrane Organization and Neuronal FunctionSemantic proximity Read

<i>MDGA2</i> homozygous loss-of-function variants cause developmental and epileptic encephalopathySemantic proximity Read

Epilepsy-Associated SCN2A-L1342P Mutation Drives Network Hyperexcitability and Widespread Transcriptomic Changes in Human Cortical OrganoidsSemantic proximity Read