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

Biallelic variants in SREBF2 cause autosomal recessive spastic paraplegia.

Journal of genetics and genomics = Yi chuan xue bao - 1 Aug 2025

Wei Qiao, Fan Wenlu, Li Hong-Fu, Wang Pei-Shan, Xu Man, Dong Hai-Lin, Yu Hao, Lyu Jialan, Luo Wen-Jiao, Chen Dian-Fu, Ge Wanzhong, Wu Zhi-Ying

Abstract excerpt

Hereditary spastic paraplegias (HSPs) refer to a genetically and clinically heterogeneous group of neurodegenerative disorders characterized by the degeneration of motor neurons. To date, a significant number of patients still have not received a definite genetic diagnosis. Therefore, identifying unreported causative genes continues to be of great importance. Here, we perform whole-exome sequencing in a cohort of...

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to Cholesterol

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genes, Recessive

Share to Mutation

Share to Pedigree

Share to Spastic Paraplegia, Hereditary

Share to Sterol Regulatory Element Binding Protein 2

Source

Identifiers

PMID: 39814172
DOI: 10.1016/j.jgg.2025.01.004

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

Biallelic variants in SREBF2 cause autosomal recessive spastic paraplegia.PMID 39814172Read ↗

Mutation in TECPR2 reveals a role for autophagy in hereditary spastic paraparesis.Semantic proximity Read ↗

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

AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.Semantic proximity Read ↗

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

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

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

A novel frameshift mutation of DDHD1 in a Japanese patient with autosomal recessive spastic paraplegia.Semantic proximity Read ↗

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

Loss of association of REEP2 with membranes leads to hereditary spastic paraplegia.Semantic proximity Read ↗

Analyzing Gene Expression Profiles from Ataxia and Spasticity Phenotypes to Reveal Spastic Ataxia Related Pathways.Semantic proximity Read ↗

Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.Semantic proximity Read ↗

TECPR2: a new autophagy link for neurodegeneration.Semantic proximity Read ↗

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