ArticleNeurology2014
Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis.
Article in Neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 61 citations in OpenAlex.
- Outcomes of bone marrow mononuclear cell transplantation combined with interventional education for autism spectrum disorder.Stem cells translational medicine · 2021Trial
- Structural insights into RNA phosphorylation by the RNase PNK module of the human rixosome complex.Nucleic acids research · 2026Article
- A NovelGenes · 2026Review
- Modeling of Charcot-Marie-Tooth disease in zebrafish.Frontiers in molecular neuroscience · 2025Review
- Review
- Clinical and Genetic Profiles of 5q- and Non-5q-Spinal Muscular Atrophy Diseases in Pediatric Patients.Genes · 2024Review
- Early onset hereditary neuronopathies: an update on non-5q motor neuron diseases.Brain : a journal of neurology · 2023Review
- Novel gene-intergenic fusion involving ubiquitin E3 ligase UBE3C causes distal hereditary motor neuropathy.Brain : a journal of neurology · 2023Article
- ABT1 modifies SMARD1 pathology via interactions with IGHMBP2 and stimulation of ATPase and helicase activity.JCI insight · 2023Article
- Severe Infantile Axonal Neuropathy with Respiratory Failure Caused by Novel Mutation in X-LinkedGenes · 2022Article
- A worldwide map of swine short tandem repeats and their associations with evolutionary and environmental adaptations.Genetics, selection, evolution : GSE · 2021Article
- HEPN RNases - an emerging class of functionally distinct RNA processing and degradation enzymes.Critical reviews in biochemistry and molecular biology · 2021Review
- Biallelic loss of function variants in SYT2 cause a treatable congenital onset presynaptic myasthenic syndrome.American journal of medical genetics. Part A · 2020Article
- Ribosomopathies: New Therapeutic Perspectives.Cells · 2020Review
- It takes two (Las1 HEPN endoribonuclease domains) to cut RNA correctly.The Journal of biological chemistry · 2020Article
- Genetic landscape of autism spectrum disorder in Vietnamese children.Scientific reports · 2020Article
- Nol9 Is a Spatial Regulator for the Human ITS2 Pre-rRNA Endonuclease-Kinase Complex.Journal of molecular biology · 2019Article
- IT'S 2 for the price of 1: Multifaceted ITS2 processing machines in RNA and DNA maintenance.DNA repair · 2019Review
- Cryo-EM reveals active site coordination within a multienzyme pre-rRNA processing complex.Nature structural & molecular biology · 2019Article
- Ribosomal biogenesis as an emerging target of neurodevelopmental pathologies.Journal of neurochemistry · 2019Review
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Authors and funding
16 authors at 2 institutions in 1 country.
Funding
Abstract
objectiveWe describe a novel congenital motor neuron disease with early demise due to respiratory insufficiency with clinical overlap with spinal muscular atrophy with respiratory distress (SMARD) type 1 but lacking a mutation in the IGHMBP2 gene.
methodsExome sequencing was used to identify a de novo mutation in the LAS1L gene in the proband. Pathogenicity of the mutation was validated using a zebrafish model by morpholino-mediated knockdown of las1l.
resultsWe identified a de novo mutation in the X-linked LAS1L gene in the proband (p.S477N). The mutation is in a highly conserved region of the LAS1L gene predicted to be deleterious by bioinformatic analysis. Morpholino-based knockdown of las1l, the orthologous gene in zebrafish, results in early lethality and disruption of muscle and peripheral nerve architecture. Coinjection of wild-type but not mutant human RNA results in partial rescue of the phenotype.
conclusionWe report a patient with a SMARD phenotype due to a mutation in LAS1L, a gene important in coordinating processing of the 45S pre-rRNA and maturation of the large 60S ribosomal subunit. Similarly, the IGHMB2 gene associated with SMARD type 1 has been suggested to have an important role in ribosomal biogenesis from its role in processing the 45S pre-rRNA. We propose that disruption of ribosomal maturation may be a common pathogenic mechanism linking SMARD phenotypes caused by both IGHMBP2 and LAS1L.
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Registered trials
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.