A5075127103- Connective tissue disorders research
- RNA Research and Splicing
- Nuclear Structure and Function
- Aortic aneurysm repair treatments
- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Muscle Physiology and Disorders
- Aortic Disease and Treatment Approaches
- Genomics and Rare Diseases
- Protease and Inhibitor Mechanisms
- CRISPR and Genetic Engineering
- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- Cardiac Valve Diseases and Treatments
- RNA regulation and disease
- Diet and metabolism studies
- ATP Synthase and ATPases Research
- Metabolism and Genetic Disorders
- Regulation of Appetite and Obesity
- MicroRNA in disease regulation
- RNA and protein synthesis mechanisms
- Genetics and Neurodevelopmental Disorders
- Genetics, Aging, and Longevity in Model Organisms
- RNA Interference and Gene Delivery
- Peptidase Inhibition and Analysis
Centre de Recherche en Myologie
2019-2024
Sorbonne Université
2019-2024
Institut de Myologie
2020-2024
Inserm
2016-2024
Pitié-Salpêtrière Hospital
2024
Laboratoire de Recherche Vasculaire Translationnelle
2017-2020
Université Paris Cité
2020
Assistance Publique – Hôpitaux de Paris
2018-2020
Hôpital Bichat-Claude-Bernard
2018
Centre for Addiction and Mental Health
2016-2018
LMNA encodes for Lamin A/C, type V intermediate filaments that polymerize under the inner nuclear membrane to form lamina. A small fraction of less polymerized, is also found in nucleoplasm. A/C functions include roles resistance mechanical stress and gene regulation. mutations are responsible a wide variety pathologies, including Emery–Dreifuss (EDMD) LMNA-related congenital muscular dystrophies (L-CMD) without clear genotype–phenotype correlations. Both diseases presented with striated...
Heart failure occurs in over 30% of the worldwide population and most commonly originates from cardiovascular diseases such as myocardial infarction. microRNAs (miRNAs) target silence specific mRNAs, thereby regulating gene expression. Because endogenous miR-155-5p has been ascribed to vasculoprotection, loading it onto positively charged, core-shell poly(isobutylcyanoacrylate) (PIBCA)-polysaccharide nanoparticles (NPs) was attempted. NPs showed a decrease (p < 0.0001) surface electrical...
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder with considerable inter- and intra-familial clinical variability. The contribution of inherited modifiers to variability has not been quantified. We analyzed the distribution 23 features in 1306 well-phenotyped MFS patients carrying FBN1 mutations. found strong correlations between within same system (i.e., ophthalmology vs. skeletal cardiovascular) suggesting common underlying determinants, while belonging different...
The ability to recapitulate muscle differentiation in vitro enables the exploration of mechanisms underlying myogenesis and diseases. However, obtaining myoblasts from patients with neuromuscular diseases or healthy subjects poses ethical procedural challenges that limit such investigations. An alternative consists converting skin fibroblasts into myogenic cells by forcing expression regulator MYOD. Here, we directly compared cellular phenotype, transcriptome, nuclear lamina-associated...
Marfan syndrome (MFS) is a rare connective tissue disorder mainly due to mutations in the FBN1 gene. Great phenotypic variability notable for age of onset, presence and absence, number severity symptoms. Our team showed that gene expression level was good surrogate endpoint some MFS clinical features. Eight alternative transcripts are referenced We hypothesized could be related specific isoforms. Isoform profiles were investigated skin adventitial fibroblasts from controls patients. The...
Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that displays a great clinical variability. Previous work in our laboratory showed fibrillin-1 (FBN1) messenger RNA (mRNA) expression surrogate endpoint for MFS severity. Therefore, quantitative trait loci (eQTL) analysis was performed to identify trans-acting regulators of FBN1 expression, and significant signal reached genome-wide threshold on chromosome 11. This delineated region comprising one expressed gene, SLN...
Abstract We describe a mutation in LMOD1 , which predisposes individuals to thoracic aortic aneurysms and dissections large multi-generation British family. Exome variant profiles for the proband two distantly related affected relatives were generated rare protein-altering, heterozygous was identified, present all exome-sequenced individuals. The allele c.1784T>C, p.(V595A) is located known actin-binding WH2 domain carried by living further assessed consecutive series of 98 UK TAAD...
ABSTRACT More than 50 repeat expansion disorders have been identified, with long-read sequencing marking a new milestone in the diagnosis of these disorders. Despite major achievements, comprehensive characterization short tandem repeats pathological context remains challenging, primarily due to their inherent characteristics such as motif complexity, high GC content, and variable length. In this study, our aim was thoroughly characterize expansions two neuromuscular diseases: myotonic...
Familial partial lipodystrophy type 2 is an autosomal dominant disorder generally due to heterozygous missense variants in the LMNA gene.In women, phenotype begins manifest before puberty, while men onset later.It striking that most of cases reported literature are women.Specifically, our cohort only 27% these patients were men.Considering pattern inheritance disease where a similar ratio between males and females would be expected, it obvious majority with this do not they diagnosed.The...