ArticleHuman molecular genetics2017
Silencing of the Drosophila ortholog of SOX5 leads to abnormal neuronal development and behavioral impairment.
Article in Human molecular genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 1 of them a synthesis that pooled it.
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Who cites it
25 citing papers in PubMed, 1 synthesis or guideline pooled it, 40 citations in OpenAlex.
- Integrative GWAS identifies novel loci and genetic links between psychiatric and metabolic factors in anorexia nervosa.Molecular psychiatry · 2026Pooled it
- Circular RNA expression in ALS is progressively deregulated and tissue-dependent.BMC genomics · 2025Article
- Analysis of molecular and cellular bases of honey bee mushroom body development.Scientific reports · 2025Article
- A missense variant in the SOX5 gene (c.221C > T) is associated with intellectual disability.Orphanet journal of rare diseases · 2025Article
- Drosophila kikkawai - Sox102F.microPublication biology · 2024Article
- Genome-Wide Identification, Evolutionary and Mutational Analysis of the Buffalo Sox Gene Family.Animals : an open access journal from MDPI · 2023Article
- Article
- Contraction of axonal and dendritic fields inFrontiers in neuroanatomy · 2022Article
- Network Effects of the 15q13.3 Microdeletion on the Transcriptome and Epigenome in Human-Induced Neurons.Biological psychiatry · 2021Article
- Capturing the transcription factor interactome in response to sub-lethal insecticide exposure.Current research in insect science · 2021Article
- Locus-specific analysis of Transposable Elements during the progression of ALS in the SOD1G93A mouse model.PloS one · 2021Article
- High expression levels and localization of Sox5 in dilated cardiomyopathy.Molecular medicine reports · 2020Article
- Non-invasive red-light optogenetic control of Drosophila cardiac function.Communications biology · 2020Article
- Genetic and genomic studies of pathogenic EXOSC2 mutations in the newly described disease SHRF implicate the autophagy pathway in disease pathogenesis.Human molecular genetics · 2020Article
- CircRNA CDR1as knockdown inhibits progression of non-small-cell lung cancer by regulating miR-219a-5p/SOX5 axis.Thoracic cancer · 2020Article
- Lithium alters expression of RNAs in a type-specific manner in differentiated human neuroblastoma neuronal cultures, including specific genes involved in Alzheimer's disease.Scientific reports · 2019Article
- SOXopathies: Growing Family of Developmental Disorders Due to SOX Mutations.Trends in genetics : TIG · 2019Review
- Transcriptional control of morphological properties of direction-selective T4/T5 neurons inDevelopment (Cambridge, England) · 2019Article
- Duplication and expression of Sox genes in spiders.BMC evolutionary biology · 2018Article
- The transcription factor SoxD controls neuronal guidance in the Drosophila visual system.Scientific reports · 2018Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 3 countries.
Funding
Abstract
SOX5 encodes a transcription factor that is expressed in multiple tissues including heart, lung and brain. Mutations in SOX5 have been previously found in patients with amyotrophic lateral sclerosis (ALS) and developmental delay, intellectual disability and dysmorphic features. To characterize the neuronal role of SOX5, we silenced the Drosophila ortholog of SOX5, Sox102F, by RNAi in various neuronal subtypes in Drosophila. Silencing of Sox102F led to misorientated and disorganized michrochaetes, neurons with shorter dendritic arborization (DA) and reduced complexity, diminished larval peristaltic contractions, loss of neuromuscular junction bouton structures, impaired olfactory perception, and severe neurodegeneration in brain. Silencing of SOX5 in human SH-SY5Y neuroblastoma cells resulted in a significant repression of WNT signaling activity and altered expression of WNT-related genes. Genetic association and meta-analyses of the results in several large family-based and case-control late-onset familial Alzheimer's disease (LOAD) samples of SOX5 variants revealed several variants that show significant association with AD disease status. In addition, analysis for rare and highly penetrate functional variants revealed four novel variants/mutations in SOX5, which taken together with functional prediction analysis, suggests a strong role of SOX5 causing AD in the carrier families. Collectively, these findings indicate that SOX5 is a novel candidate gene for LOAD with an important role in neuronal function. The genetic findings warrant further studies to identify and characterize SOX5 variants that confer risk for AD, ALS and intellectual disability.
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