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

A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.

Annals of clinical and translational neurology - 1 Nov 2023

Wang Juan, Zhao Rongjuan, Cao Hanshuai, Yin Zhaoxu, Ma Jing, Xing Yingming, Zhang Wei, Chang Xueli, Guo Junhong

Abstract excerpt

OBJECTIVE: Hereditary spastic paraplegia (HSP) has been reported rarely because of a monoallelic variant in ERLIN2. The present study aimed at describing a novel autosomal dominant ERLIN2 pedigree in a Chinese family and exploring the possible mechanism of HSP caused by ERLIN2 variants. METHODS: The proband and his family underwent a comprehensive medical history inquiry and neurological examinations. Whole-exome...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to East Asian People

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Endoplasmic Reticulum Stress

Share to HeLa Cells

Share to Membrane Proteins

Share to Mutation

Share to Spastic Paraplegia, Hereditary

Source

Open in PubMed Open full text

Identifiers

PMID: 37752894
DOI: 10.1002/acn3.51902
PMCID: PMC10646992

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel autosomal dominant ERLIN2 variant activates endoplasmic reticulum stress in a Chinese HSP family.PMID 37752894Read ↗

An autosomal dominant ERLIN2 mutation leads to a pure HSP phenotype distinct from the autosomal recessive ERLIN2 mutations (SPG18).Semantic proximity Read ↗

A novel heterozygous variant in ERLIN2 causes autosomal dominant pure hereditary spastic paraplegia.Semantic proximity Read ↗

More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.Semantic proximity Read ↗

A novel homozygous mutation in ERLIN1 gene causing spastic paraplegia 62 and literature review.Semantic proximity Read ↗

A novel splice site mutation in ERLIN2 causes hereditary spastic paraplegia in a Saudi family.Semantic proximity Read ↗

Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.Semantic proximity Read ↗

Hereditary spastic paraparesis type 18 (SPG18): new ERLIN2 variants in a series of Italian patients, shedding light upon genetic and phenotypic variability.Semantic proximity Read ↗

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18).Semantic proximity Read ↗

The emerging genetic diversity of hereditary spastic paraplegia in Korean patients.Semantic proximity Read ↗

New phenotype of RTN2-related spectrum: Complicated form of spastic paraplegia-12.Semantic proximity Read ↗

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12.Semantic proximity Read ↗

Novel monoallelic variant in ERLIN2 causes spastic paraplegia converted to amyotrophic lateral sclerosis.Semantic proximity Read ↗

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