ArticleEMBO molecular medicine2014
SIL1, a causative cochaperone gene of Marinesco-Söjgren syndrome, plays an essential role in establishing the architecture of the developing cerebral cortex.
Article in EMBO molecular medicine, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 37 citations in OpenAlex.
- Assessing the prognostic value of SIL1 in pan-cancer cohorts and its practical application as a biomarker in glioma practice.BMC cancer · 2026Article
- Novel compound heterozygous SIL1 variants associated with Marinesco-Sjögren syndrome in a Chinese family.Frontiers in genetics · 2026Article
- Marinesco-Sjögren Syndrome: A NovelLife (Basel, Switzerland) · 2025Article
- A NovelInternational journal of molecular sciences · 2025Article
- Loss of SIL1 Affects Actin Dynamics and Leads to Abnormal Neural Migration.Molecular neurobiology · 2025Article
- IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport.Cellular and molecular life sciences : CMLS · 2024Article
- Exome sequencing revealed variants in SGCA and SIL1 genes underlying limb girdle muscular dystrophy and Marinesco-Sjögren syndrome patients.Molecular biology reports · 2024Article
- SIL1 improves cognitive impairment in APP23/PS45 mice by regulating amyloid precursor protein processing and Aβ generation.Zoological research · 2024Article
- Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.Cerebellum (London, England) · 2024Review
- The regulatory role of endoplasmic reticulum chaperone proteins in neurodevelopment.Frontiers in neuroscience · 2022Review
- Role of the HSP70 Co-Chaperone SIL1 in Health and Disease.International journal of molecular sciences · 2021Review
- Role of Per3, a circadian clock gene, in embryonic development of mouse cerebral cortex.Scientific reports · 2019Article
- Functional Role of SIL1 in Neurodevelopment and Learning.Neural plasticity · 2019Article
- SIL1 functions as an oncogene in glioma by AKT/mTOR signaling pathway.OncoTargets and therapy · 2018Article
- MUNC18-1 gene abnormalities are involved in neurodevelopmental disorders through defective cortical architecture during brain development.Acta neuropathologica communications · 2017Article
- Role of a circadian-relevant gene NR1D1 in brain development: possible involvement in the pathophysiology of autism spectrum disorders.Scientific reports · 2017Article
- Metazoan evolution of the armadillo repeat superfamily.Cellular and molecular life sciences : CMLS · 2017Article
- Cellular Signature of SIL1 Depletion: Disease Pathogenesis due to Alterations in Protein Composition Beyond the ER Machinery.Molecular neurobiology · 2016Article
- Essential role of the nuclear isoform of RBFOX1, a candidate gene for autism spectrum disorders, in the brain development.Scientific reports · 2016Article
- Decoding the molecular mechanisms of neuronal migration using in utero electroporation.Medical molecular morphology · 2016Review
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessively inherited disorder with mental retardation (MR). Recently, mutations in the SIL1 gene, encoding a co-chaperone which regulates the chaperone HSPA5, were identified as a major cause of MSS. We here examined the pathophysiological significance of SIL1 mutations in abnormal corticogenesis of MSS. SIL1-silencing caused neuronal migration delay during corticogenesis ex vivo. While RNAi-resistant SIL1 rescued the defects, three MSS-causing SIL1 mutants tested did not. These mutants had lower affinities to HSPA5 in vitro, and SIL1-HSPA5 interaction as well as HSPA5 function was found to be crucial for neuronal migration ex vivo. Furthermore time-lapse imaging revealed morphological disorganization associated with abnormal migration of SIL1-deficient neurons. These results suggest that the mutations prevent SIL1 from interacting with and regulating HSPA5, leading to abnormal neuronal morphology and migration. Consistent with this, when SIL1 was silenced in cortical neurons in one hemisphere, axonal growth in the contralateral hemisphere was delayed. Taken together, abnormal neuronal migration and interhemispheric axon development may contribute to MR in MSS.
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