ArticleMolecular and cellular biology2005
The SR protein SC35 is responsible for aberrant splicing of the E1alpha pyruvate dehydrogenase mRNA in a case of mental retardation with lactic acidosis.
Article in Molecular and cellular biology, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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26 citing papers in PubMed, 62 citations in OpenAlex.
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- Multimodal mechanisms of pathogenic variants in the signal peptide of FIX leading to hemophilia B.Blood advances · 2024Article
- Molecular basis of inherited protein C deficiency results from genetic variations in the signal peptide and propeptide regions.Journal of thrombosis and haemostasis : JTH · 2023Article
- Hypoxia-induced alternative splicing: the 11th Hallmark of Cancer.Journal of experimental & clinical cancer research : CR · 2020Review
- Modeling RNA-Binding Protein Specificity In Vivo by Precisely Registering Protein-RNA Crosslink Sites.Molecular cell · 2019Article
- Succession of splicing regulatory elements determines cryptic 5΄ss functionality.Nucleic acids research · 2017Article
- Human Papillomavirus 16 Oncoprotein Expression Is Controlled by the Cellular Splicing Factor SRSF2 (SC35).Journal of virology · 2015Article
- A SNP in intron 8 of CD46 causes a novel transcript associated with mastitis in Holsteins.BMC genomics · 2014Article
- Common variants in genes of the postsynaptic FMRP signalling pathway are risk factors for autism spectrum disorders.Human genetics · 2014Article
- Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.F1000Research · 2014Review
- Pick one, but be quick: 5' splice sites and the problems of too many choices.Genes & development · 2013Review
- The exon 29 c.3535A>T in the alpha-2-macroglobulin gene causing aberrant splice variants is associated with mastitis in dairy cattle.Immunogenetics · 2012Article
- A syn-anti conformational difference allows SRSF2 to recognize guanines and cytosines equally well.The EMBO journal · 2012Article
- Alternative Splicing of a Novel Inducible Exon Diversifies the CASK Guanylate Kinase Domain.Journal of nucleic acids · 2012Article
- Article
- PIN1 gene variants in Alzheimer's disease.BMC medical genetics · 2009Article
- An unusual genetic variant in the MOCS1 gene leads to complete missplicing of an alternatively spliced exon in a patient with molybdenum cofactor deficiency.Journal of inherited metabolic disease · 2009Article
- Multifactorial interplay controls the splicing profile of Alu-derived exons.Molecular and cellular biology · 2008Article
- A role for SC35 and hnRNPA1 in the determination of amyloid precursor protein isoforms.Molecular psychiatry · 2007Article
- Splicing analysis disclosed a determinant single nucleotide for exon skipping caused by a novel intraexonic four-nucleotide deletion in the dystrophin gene.Journal of medical genetics · 2006Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pyruvate dehydrogenase (PDH) complex deficiency is a major cause of lactic acidosis and Leigh's encephalomyelopathies in infancy and childhood, resulting in early death in the majority of patients. Most of the molecular defects have been localized in the coding regions of the E1alpha PDH gene. Recently, we identified a novel mutation of the E1alpha PDH gene in a patient with an encephalopathy and lactic acidosis. This mutation, located downstream of exon 7, activates a cryptic splice donor and leads to the retention of intronic sequences. Here, we demonstrate that the mutation results in an increased binding of the SR protein SC35. Consistently, ectopic overexpression of this splicing factor enhanced the use of the cryptic splice site, whereas small interfering RNA-mediated reduction of the SC35 protein levels in primary fibroblasts from the patient resulted in the almost complete disappearance of the aberrantly spliced E1alpha PDH mRNA. Our findings open the exciting prospect for a novel therapy of an inherited disease by altering the level of a specific splicing factor.
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