Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Functional rescue of a disease-linked ERAD pathway mutation via alternative splicing.

The EMBO journal - 1 May 2026

Wang Huilun Helen, Wang Zhihong, Lin Liangguang Leo, Verma Sunil K, Gniadzik Weronika, Wang Hui, Li Zexin Jason, Whitestone Emily, Jiang Lulu, Kuyumcu-Martinez Muge N, Sun Shengyi, Qi Ling

Abstract excerpt

ER-associated degradation (ERAD) targets misfolded proteins in the endoplasmic reticulum (ER) for proteasomal degradation. Mutations in its most conserved branch involving the SEL1L-HRD1 complex cause ERAD-associated neurodevelopmental disorders with onset in infancy (ENDI), characterized by developmental delay, microcephaly, and locomotor dysfunction. Its most severe form, ENDI with agammaglobulinemia (ENDI-A),...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Alternative Splicing
Share to Endoplasmic Reticulum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum-Associated Degradation

Share to Fibroblasts

Share to Gene Knock-In Techniques

Share to Intracellular Signaling Peptides and Proteins

Share to Lectins

Share to Oligonucleotides, Antisense

Source

Open in PubMed Open full text

Identifiers

PMID: 41862645
DOI: 10.1038/s44318-026-00757-5
PMCID: PMC13144729

Genes

SEL1L

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional rescue of a disease-linked ERAD pathway mutation via alternative splicing.PMID 41862645Read ↗

Functional rescue of a fatal ERAD mutation via alternative splicingSemantic proximity Read ↗

Functional integrity of the SEL1L-HRD1 complex is critical for endoplasmic reticulum-associated degradation and organismal viability.Semantic proximity Read ↗

Therapeutic Prospects of Exon Skipping for Epidermolysis Bullosa.Semantic proximity Read ↗

Overview on applications of antisense-mediated exon skipping.Semantic proximity Read ↗

Functional integrity of the SEL1L-HRD1 complex is critical for ERAD and organismal viabilitySemantic proximity Read ↗

Splice modulation strategy applied to deep intronic variants in COL7A1 causing recessive dystrophic epidermolysis bullosaSemantic proximity Read ↗

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

Antisense-mediated exon skipping to reframe transcripts.Semantic proximity Read ↗

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

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

Allele-specific antisense oligonucleotide treatment rescues <i>atad3-</i> associated phenotype in zebrafishSemantic proximity Read ↗

Deficiency of Suppressor Enhancer Lin12 1 Like (SEL1L) in Mice Leads to Systemic Endoplasmic Reticulum Stress and Embryonic LethalitySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.