A5074640790- RNA Research and Splicing
- RNA modifications and cancer
- Muscle Physiology and Disorders
- RNA and protein synthesis mechanisms
- Ubiquitin and proteasome pathways
- Cystic Fibrosis Research Advances
- Cancer, Hypoxia, and Metabolism
- Neurogenetic and Muscular Disorders Research
- Mitochondrial Function and Pathology
- Chromosomal and Genetic Variations
- Genomics and Rare Diseases
- Cancer-related Molecular Pathways
- Respiratory viral infections research
- ATP Synthase and ATPases Research
- Genomics and Chromatin Dynamics
- Cancer Research and Treatments
- Metabolism and Genetic Disorders
- Neonatal Respiratory Health Research
Inserm
2011-2024
Centre Hospitalier Universitaire de Montpellier
2024
Physiologie et Médecine Expérimentale du Coeur et des Muscles
2024
Université de Montpellier
2010-2020
Centre National de la Recherche Scientifique
2007
Polyglutamylation is a post-translational modification that generates lateral acidic side chains on proteins by sequential addition of glutamate amino acids. This was first discovered tubulins, and it important for several microtubule functions. Besides only the nucleosome assembly NAP1 NAP2 have been shown to be polyglutamylated. Here, using proteomic approach, we identify large number putative substrates polyglutamylation in HeLa cells. By analyzing selection these substrates, show them...
<h3>Background</h3> Succinate-CoA ligase deficiency is responsible for encephalomyopathy with mitochondrial DNA depletion and mild methylmalonic aciduria. Mutations in <i>SUCLA2</i>, the gene encoding a β subunit of succinate-CoA ligase, have been reported 17 patients until now. <i>SUCLG1</i>, α enzyme, described two pedigrees only. <h3>Methods findings</h3> In this study, unrelated harbouring three novel pathogenic mutations <i>SUCLG1</i> were reported. The first patient had severe disease...
We investigated the molecular mechanisms for in-frame skipping of DMD exon 39 caused by nonsense c.5480T>A mutation in a patient with Becker muscular dystrophy. RNase-assisted pull down assay coupled mass spectrometry revealed that mutant RNA probe specifically recruits hnRNPA1, hnRNPA2/B1 and DAZAP1. Functional studies human myoblast cell line transfected minigenes confirmed splicing inhibitory activity hnRNPA1 hnRNPA2/B1, showed DAZAP1, also known to activate splicing, acts negatively...
Abstract We have analysed the splicing pattern of human Duchenne Muscular Dystrophy ( DMD ) transcript in normal skeletal muscle. To achieve depth coverage required for analysis this lowly expressed gene muscle, we designed a targeted RNA-Seq procedure that combines amplification full-length 11.3 kb cDNA sequence and 454 sequencing technology. A high uniform was obtained allowed to draw up reliable inventory physiological alternative events muscular transcript. In contrast previous...
Abstract Background Despite its critical role for mammalian gene regulation, the basic structural landscape of chromatin in living cells remains largely unknown within chromosomal territories below megabase scale. Results Here, using 3C-qPCR method, we investigate contact frequencies at high resolution interphase several mouse loci. We find that, gene-rich loci, undergo a periodical modulation (every 90 to 100 kb) that affects dynamics over large genomic distances (a few hundred kilobases)....
Abstract Deposition of the exon junction complex (EJC) upstream exon-exon junctions helps maintain transcriptome integrity by preventing spurious re-splicing events in already spliced mRNAs. Here we investigate importance EJC for correct splicing 2.2-megabase-long human DMD pre-mRNA, which encodes dystrophin, an essential protein involved cytoskeletal organization and cell signaling. Using targeted RNA-seq, show that knock-down eIF4A3 Y14 core components a muscle line causes accumulation...
The Duchenne muscular dystrophy (DMD) gene has a complex expression pattern regulated by multiple tissue-specific promoters and alternative splicing (AS) of the resulting transcripts. Here, we used an RNAi-based approach coupled with DMD-targeted RNA-seq to identify RNA-binding proteins (RBPs) that regulate its skeletal muscle isoform (Dp427m) in human cell line. A total 16 RBPs comprising major regulators muscle-specific events were tested. We show distinct combinations maintain correct...