Delphine Simon

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Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is characterized by degeneration of the large sensory neurons and spinocerebellar tracts, cardiomyopathy and increased incidence in diabetes. FRDA is caused by severely reduced levels of frataxin, a mitochondrial protein of unknown function. Yeast knockout models as well as histological(More)
Friedreich ataxia (FRDA), the most common recessive ataxia, is characterized by degeneration of the large sensory neurons of the spinal cord and cardiomyopathy. It is caused by severely reduced levels of frataxin, a mitochondrial protein involved in iron-sulfur cluster (ISC) biosynthesis. Through a spatiotemporally controlled conditional gene-targeting(More)
Friedreich ataxia (FRDA), a progressive neurodegenerative disorder associated with cardiomyopathy, is caused by severely reduced frataxin, a mitochondrial protein involved in Fe-S cluster assembly. We have recently generated mouse models that reproduce important progressive pathological and biochemical features of the human disease. Our frataxin-deficient(More)
Transposable elements are presents in all known genomes so far, and have the faculty of changing their genomic location and/or number of copies within the genome. They are mobile endogenous genetic elements, with a large variety of structure and transposition mechanism. In crops, they compose the major part of the nucleic DNA, up to 80% in some cereals like(More)
A family with dominant X-linked chondrodysplasia was previously described. The disease locus was ascribed to a 24 Mb interval in Xp11.3-q13.1. We have identified a variant (c.*281A>T) in the 3' untranslated region (UTR) of the HDAC6 gene that totally segregates with the disease. The variant is located in the seed sequence of hsa-miR-433. Our data showed(More)
We describe a patient presenting with developmental delay, patent foramen ovale, moderate short QT interval, and facial dysmorphism including left microtia, preauricular tag and pit, wide left corner of the mouth, and left hemifacial microsomia, fitting with the oculoauriculovertebral spectrum. We identified a de novo 2.3 Mb deletion in the 12p13.33 region(More)
The Rubinstein–Taybi syndrome (RTS) is a rare autosomal-dominant disease associated with 10–15% of cases with 16p13.3 microdeletions involving the CREB-binding protein gene (CREBBP). We used array-comparative genomic hybridization and Quantitative multiplex fluorescent-PCR (QMF-PCR) to search for dosage anomalies in the 16p13.3 region and the CREBBP gene.(More)
The objective of this research is to evaluate the feasibility and locations of using cellulosic biomass both from crop residues and from dedicated energy crops to supply 200-million-liter-biodiesel plants in France. The estimation of the potential amount of agricultural residue available in 2015 in each region of France is calculated. The residues(More)
Oculocutaneous albinism (OCA) is caused by mutations in six different genes, and their molecular diagnosis encompasses the search for point mutations and intragenic rearrangements. Here, we used high-resolution array-comparative genome hybridization (CGH) to search for rearrangements across exons, introns and regulatory sequences of four OCA genes: TYR,(More)
Cite this article as: Fanny Morice-Picard, Eulalie Lasseaux, Stéphane François, Delphine Simon, Caroline Rooryck, Eric Bieth, Estelle Colin, Dominique Bonneau, Hubert Journel, Sophie Walraedt, Bart P Leroy, Francoise Meire, Didier Lacombe, Benoit Arveiler, SLC24A5 Mutations are Associated with NonSyndromic Oculocutaneous Albinism, Journal of Investigative(More)