Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.

doi:10.1016/j.gim.2024.101174

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

Community

Back to search

Article

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2024

Moulton Matthew J, Atala Kristhen, Zheng Yiming, Dutta Debdeep, Grange Dorothy K, Lin Wen-Wen, Wegner Daniel J, Wambach Jennifer A, Duker Angela L, Bober Michael B, Kratz Lisa, Wise Carol A, Oxendine Ila, Khanshour Anas, Wangler Michael F, Yamamoto Shinya, Cole F Sessions, Rios Jonathan, Bellen Hugo J

Abstract excerpt

PURPOSE: We identified 2 individuals with de novo variants in SREBF2 that disrupt a conserved site 1 protease (S1P) cleavage motif required for processing SREBP2 into its mature transcription factor. These individuals exhibit complex phenotypic manifestations that partially overlap with sterol regulatory element binding proteins (SREBP) pathway-related disease phenotypes, but SREBF2-related disease has not been...

Read the complete abstract on PubMed

Topics

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

Share to Endoplasmic Reticulum

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Lipid Droplets

Share to Mutation, Missense

Share to Phenotype

Share to Proprotein Convertases

Share to Serine Endopeptidases

Share to Sterol Regulatory Element Binding Protein 2

Source

Open in PubMed Open full text

Identifiers

PMID: 38847193
DOI: 10.1016/j.gim.2024.101174
PMCID: PMC12358889

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

Dominant missense variants in SREBF2 are associated with complex dermatological, neurological, and skeletal abnormalities.PMID 38847193Read ↗

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome.Semantic proximity Read ↗

LMNA p.R482W mutation related to FPLD2 alters SREBP1-A type lamin interactions in human fibroblasts and adipose stem cellsSemantic proximity Read ↗

SREBP-2-deficient and hypomorphic mice reveal roles for SREBP-2 in embryonic development and SREBP-1c expression.Semantic proximity Read ↗

Biallelic variants in SREBF2 cause autosomal recessive spastic paraplegia.Semantic proximity Read ↗

The Human Lipodystrophy Gene BSCL2/Seipin May Be Essential for Normal Adipocyte DifferentiationSemantic proximity Read ↗

The lipodystrophy protein seipin is found at endoplasmic reticulum lipid droplet junctions and is important for droplet morphology.Semantic proximity Read ↗

Early B-cell transcription factor-2 defect as a novel cause of lipodystrophy: disruption of the adipose tissue character and integritySemantic proximity Read ↗

Identification of Genetic Suppressors for a Berardinelli-Seip Congenital Generalized Lipodystrophy Type 2 (BSCL2) Pathogenic Variant in <i>C. elegans</i>Semantic proximity Read ↗

The site-2 protease.Semantic proximity Read ↗

Abnormal Meibum Is Associated With <i>SREBF1</i> Mutation And IFAP Syndrome-2Semantic proximity Read ↗

Exome sequencing identifies a SREBF1 recurrent ARG557CYS mutation as the cause of hereditary mucoepithelial dysplasia in a family with high clinical variability.Semantic proximity Read ↗

Structural requirements for sterol regulatory element-binding protein (SREBP) cleavage in fission yeast.Semantic proximity Read ↗

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