Article

Adapting the endoplasmic reticulum proteostasis rescues epilepsy-associated NMDA receptor variants

2023-04-02

Abstract excerpt

The GRIN genes encoding N-methyl-D-aspartate receptor (NMDAR) subunits are remarkably intolerant to variation. Many pathogenic NMDAR variants result in their protein misfolding, inefficient assembly, reduced surface expression, and impaired functionality at the plasma membrane, causing neurological disorders including epilepsy and intellectual disability. Here, we concentrate on the proteostasis maintenance of NM...

Topics

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

Identifiers and source

Literature Corpus work: 0304317f-88a7-5260-bbad-d1bb3d7f47b0
DOI: 10.1101/2023.04.01.535233

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Adapting the endoplasmic reticulum proteostasis rescues epilepsy-associated NMDA receptor variantsDOI 10.1101/2023.04.01.535233Read

Quantitative interactome proteomics identifies proteostasis network for GABA <sub>A</sub> receptorsSemantic proximity Read

A GluN2B disease-associated variant promotes degradation of NMDA receptors via autophagySemantic proximity Read

Hsp47 Promotes Biogenesis of Multi-subunit Neuroreceptors in the Endoplasmic ReticulumSemantic proximity Read

Missense variants in GABA <sub>A</sub> receptor beta2 subunit disrupt receptor biogenesis and cause loss of functionSemantic proximity Read

Pharmacological chaperones restore proteostasis of epilepsy-associated GABA <sub>A</sub> receptor variantsSemantic proximity Read

Ca2+ homeostasis modulation enhances the amenability of L444P glucosylcerebrosidase to proteostasis regulation in patient-derived fibroblasts.Semantic proximity Read

The Endoplasmic Reticulum Membrane Complex Promotes Proteostasis of GABA <sub>A</sub> ReceptorsSemantic proximity Read

The human epilepsy mutation GABRG2(Q390X) causes chronic subunit accumulation and neurodegeneration.Semantic proximity Read

Fine‐tuning PERK signaling for neuroprotectionSemantic proximity Read

The proteostasis interactomes of trafficking-deficient variants of the voltage-gated potassium channel KV11.1 associated with long QT syndromeSemantic proximity Read

Independent regulation of early trafficking of NMDA receptors by ligand-binding domains of the GluN1 and GluN2A subunitsSemantic proximity Read

<i>GABRA1</i> frameshift variants impair GABA <sub>A</sub> receptor proteostasisSemantic proximity Read