Article

Natural <i>SEL1L</i> variants modify ERAD, proteasome function, and survival in a <i>Drosophila</i> model of NGLY1 deficiency

2025-03-11

Abstract excerpt

<h4>ABSTRACT</h4> N-glycanase 1 (NGLY1) deficiency is an ultra-rare disease caused by autosomal recessive loss-of-function mutations in the NGLY1 gene. NGLY1 removes N-linked glycans from glycoproteins in the cytoplasm and is thought to help clear misfolded proteins from the endoplasmic reticulum (ER) through the ER associated degradation (ERAD) pathway. Despite this, the physiological significance of NGLY1 in E...

Topics

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

Identifiers and source

Literature Corpus work: d313bf2d-e573-5bc0-8c2e-8fc60296e79f
DOI: 10.1101/2025.03.06.641902

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Natural <i>SEL1L</i> variants modify ERAD, proteasome function, and survival in a <i>Drosophila</i> model of NGLY1 deficiencyDOI 10.1101/2025.03.06.641902Read

Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approachesSemantic proximity Read

Defects in the neuroendocrine axis cause global development delay in a <i>Drosophila</i> model of NGLY1 DeficiencySemantic proximity Read

A <i>Drosophila</i> natural variation screen identifies NKCC1 as a substrate of NGLY1 deglycosylation and a modifier of NGLY1 deficiencySemantic proximity Read

Cytosolic Peptide: N-Glycanase (NGLY1)-from Basic Biology to Genetic Disorder, NGLY1 Deficiency.Semantic proximity Read

Patient-derived gene and protein expression signatures of NGLY1 deficiencySemantic proximity Read

A Drosophila screen identifies NKCC1 as a modifier of NGLY1 deficiency.Semantic proximity Read

Transcriptomic analysis of SEL1L and HRD1 knockout cell lines reveals multifaceted roles of SEL1L beyond the ER quality controlSemantic proximity Read

SEL1L-HRD1 interaction is prerequisite for the formation of a functional HRD1 ERAD complexSemantic proximity Read

An <i>in vivo</i> drug repurposing screen and transcriptional analyses reveals the serotonin pathway and GSK3 as major therapeutic targets for NGLY1 deficiencySemantic proximity Read

Defects in the Neuroendocrine Axis Contribute to Global Development Delay in a Drosophila Model of NGLY1 Deficiency.Semantic proximity Read

NGLY1 Deficiency, a Congenital Disorder of Deglycosylation: From Disease Gene Function to Pathophysiology.Semantic proximity Read

The <i>Drosophila</i> metallopeptidase <i>superdeath</i> decouples apoptosis from the activation of the ER stress responseSemantic proximity Read