ArticleEuropean journal of human genetics : EJHG2018
ERLIN1 mutations cause teenage-onset slowly progressive ALS in a large Turkish pedigree.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 38 citations in OpenAlex.
- Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment.Journal of human genetics · 2018Trial
- Expanding the genetic and clinical landscapes of hereditary spastic paraplegia (HSP): a cohort study of 103 families.Orphanet journal of rare diseases · 2026Article
- Structures of human organellar SPFH protein complexes.Nature communications · 2025Article
- Entering the era of precision medicine to treat amyotrophic lateral sclerosis.Molecular neurodegeneration · 2025Review
- Biallelic variants in ERLIN1: a series of 13 individuals with spastic paraparesis.Human genetics · 2024Article
- ERLIN1/2 scaffolds bridge TMUB1 and RNF170 and restrict cholesterol esterification to regulate the secretory pathway.Life science alliance · 2024Article
- Clinical and Genetic Aspects of Juvenile Amyotrophic Lateral Sclerosis: A Promising Era Emerges.Genes · 2024Review
- Multi-Omics Analysis Reveals the Pathogenesis of Growth-Disordered Raccoon Dog.International journal of molecular sciences · 2023Article
- Amyotrophic lateral sclerosis: translating genetic discoveries into therapies.Nature reviews. Genetics · 2023Review
- Crosstalk Between miRNA and Protein Expression Profiles in Nitrate-Exposed Brain Cells.Molecular neurobiology · 2023Article
- Matrine impedes colorectal cancer proliferation and migration by downregulating endoplasmic reticulum lipid raft associated protein 1 expression.Bioengineered · 2022Article
- The Emerging Role of Central and Peripheral Immune Systems in Neurodegenerative Diseases.Frontiers in aging neuroscience · 2022Review
- More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.Brain and behavior · 2021Review
- Review
- Review
- Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.Current neurology and neuroscience reports · 2021Review
- Article
- Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia.Nature communications · 2019Article
- The erlin2 T65I mutation inhibits erlin1/2 complex-mediated inositol 1,4,5-trisphosphate receptor ubiquitination and phosphatidylinositol 3-phosphate binding.The Journal of biological chemistry · 2018Article
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Amyotrophic lateral sclerosis (ALS) is a late-onset motor neuron disease with mostly dominant inheritance and a life expectancy of 2-5 years; however, a quite common occurrence of atypical forms of the disease, due to recessive inheritance, has become evident with the use of NGS technologies. In this paper, we describe a family with close consanguinity for at least four generations, suffering from a slowly progressive form of ALS. Spastic walking is observed since teenage years, while bulbar symptoms start much later, at the fifth or sixth decade of life. Patients usually die because of respiratory failure. Using whole-exome sequencing, we identified a novel homozygous p.(Val94Ala) (c.281T>C) (NG_052910.1) (NM_006459) variation in the endoplasmic reticulum lipid raft associated protein 1 (ERLIN1) gene, which segregates with the disease in the family. Here we suggest that ERLIN1 variants, previously shown in juvenile hereditary spastic paraplegia cases, may also be the cause of a slowly progressive early-onset ALS, starting with upper motor neuron features and developing into classical ALS with the addition of lower motor neuron dysfunction. We also demonstrate that ATP-binding cassette subfamily C member 2 (ABCC2) gene, responsible for hyperbilirubinemia, is linked to ERLIN1.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.