ArticleHuman genetics2021
Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.
Article in Human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 16 papers.
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Who cites it
16 citing papers in PubMed, 29 citations in OpenAlex.
- NEMF inhibits the proliferation and migration of ovarian cancer cells by blocking the PI3K/mTOR pathway.Discover oncology · 2026Article
- Quality control and signaling pathways at stalled ribosomes.Experimental & molecular medicine · 2026Review
- Dysregulated neuronal mRNA transport and translation in FTD/ALS.NPJ dementia · 2026Review
- Mechanism of nascent chain removal by the ribosome-associated quality control complex.Nature communications · 2025Article
- UFMylation orchestrates spatiotemporal coordination of RQC at the ER.Science advances · 2025Article
- Dysregulated ribosome quality control in human diseases.The FEBS journal · 2025Review
- NEMF mutations in mice illustrate how Importin-β specific nuclear transport defects recapitulate neurodegenerative disease hallmarks.PLoS genetics · 2024Article
- Poly-alanine-tailing is a modifier of neurodegeneration caused by Listerin mutation.bioRxiv : the preprint server for biology · 2024Article
- Ribosomal quality control factors inhibit repeat-associated non-AUG translation from GC-rich repeats.Nucleic acids research · 2024Article
- Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy (IDDSAPN): A Mixed Phenotype.Annals of Indian Academy of Neurology · 2024Article
- Translation dysregulation in neurodegenerative diseases: a focus on ALS.Molecular neurodegeneration · 2023Review
- Impaired ribosome-associated quality control of C9orf72 arginine-rich dipeptide-repeat proteins.Brain : a journal of neurology · 2023Article
- Ribosome-associated quality-control mechanisms from bacteria to humans.Molecular cell · 2022Review
- LISTERIN E3 Ubiquitin Ligase and Ribosome-Associated Quality Control (RQC) Mechanism.Molecular neurobiology · 2021Review
- The trinity of ribosome-associated quality control and stress signaling for proteostasis and neuronal physiology.BMB reports · 2021Review
- A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred.BMC medical genomics · 2021Article
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Authors and funding
33 authors at 8 institutions in 7 countries.
Funding
Abstract
We aimed to detect the causative gene in five unrelated families with recessive inheritance pattern neurological disorders involving the central nervous system, and the potential function of the NEMF gene in the central nervous system. Exome sequencing (ES) was applied to all families and linkage analysis was performed on family 1. A minigene assay was used to validate the splicing effect of the relevant discovered variants. Immunofluorescence (IF) experiment was performed to investigate the role of the causative gene in neuron development. The large consanguineous family confirms the phenotype-causative relationship with homozygous frameshift variant (NM_004713.6:c.2618del) as revealed by ES. Linkage analysis of the family showed a significant single-point LOD of 4.5 locus. Through collaboration in GeneMatcher, four additional unrelated families' likely pathogenic NEMF variants for a spectrum of central neurological disorders, two homozygous splice-site variants (NM_004713.6:c.574+1G>T and NM_004713.6:c.807-2A>C) and a homozygous frameshift variant (NM_004713.6: c.1234_1235insC) were subsequently identified and segregated with all affected individuals. We further revealed that knockdown (KD) of Nemf leads to impairment of axonal outgrowth and synapse development in cultured mouse primary cortical neurons. Our study demonstrates that disease-causing biallelic NEMF variants result in central nervous system impairment and other variable features. NEMF is an important player in mammalian neuron development.
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