Zobrazeno 1 - 10
of 73
pro vyhledávání: '"Frédéric, Favreau"'
Autor:
Camille Loret, Amandine Pauset, Pierre-Antoine Faye, Valérie Prouzet-Mauleon, Ioanna Pyromali, Angélique Nizou, Federica Miressi, Franck Sturtz, Frédéric Favreau, Béatrice Turcq, Anne-Sophie Lia
Publikováno v:
Biomedicines, Vol 12, Iss 7, p 1550 (2024)
Human induced pluripotent stem cells (hiPSCs) represent a powerful tool to investigate neuropathological disorders in which the cells of interest are inaccessible, such as in the Charcot–Marie–Tooth disease (CMT), the most common inherited periph
Externí odkaz:
https://doaj.org/article/9f8357a02465470db1feada18e9ab430
Autor:
Nesrine Benslimane, Camille Loret, Pauline Chazelas, Frédéric Favreau, Pierre-Antoine Faye, Fabrice Lejeune, Anne-Sophie Lia
Publikováno v:
Pharmaceuticals, Vol 17, Iss 3, p 314 (2024)
Nonsense mutations that generate a premature termination codon (PTC) can induce both the accelerated degradation of mutated mRNA compared with the wild type version of the mRNA or the production of a truncated protein. One of the considered therapeut
Externí odkaz:
https://doaj.org/article/c9bb724cfe6e47b08f7976b929da6962
Autor:
Nesrine Benslimane, Federica Miressi, Camille Loret, Laurence Richard, Angélique Nizou, Ioanna Pyromali, Pierre-Antoine Faye, Frédéric Favreau, Fabrice Lejeune, Anne-Sophie Lia
Publikováno v:
Pharmaceuticals, Vol 16, Iss 7, p 1034 (2023)
Nonsense mutations are involved in multiple peripheral neuropathies. These mutations induce the presence of a premature termination codon (PTC) at the mRNA level. As a result, a dysfunctional or truncated protein is synthesized, or even absent linked
Externí odkaz:
https://doaj.org/article/4fcd4e5b984e4e5596c80ec1ced643e1
Autor:
Ioanna Pyromali, Laurence Richard, Paco Derouault, Jean-Michel Vallat, Karima Ghorab, Corinne Magdelaine, Franck Sturtz, Frédéric Favreau, Anne-Sophie Lia
Publikováno v:
Biomedicines, Vol 11, Iss 6, p 1565 (2023)
Hereditary sensory neuropathies (HSN) are a heterogenous group of sensory neuropathies. Mutations in ATL3 have been described in patients presenting with hereditary sensory neuropathy IF (HSN1F), a subtype of HSN. Herein, by analyzing targeted-NGS da
Externí odkaz:
https://doaj.org/article/38396eaa0d3e49e9a51bb45d20ac9caa
Autor:
Ioanna Pyromali, Alexandre Perani, Angélique Nizou, Nesrine Benslimane, Paco Derouault, Sylvie Bourthoumieu, Mélanie Fradin, Guilhem Sole, Fanny Duval, Constantin Gomes, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 19, Iss , Pp 4265-4272 (2021)
Next-generation sequencing (NGS) allows the detection of mutations in inherited genetic diseases, like the Charcot-Marie-Tooth disease (CMT) which is the most common hereditary peripheral neuropathy. The majority of mutations detected by NGS are sing
Externí odkaz:
https://doaj.org/article/7e358b27452f44e59045c62065768904
Autor:
Federica Miressi, Pierre-Antoine Faye, Ioanna Pyromali, Sylvie Bourthoumieux, Paco Derouault, Marie Husson, Frédéric Favreau, Franck Sturtz, Corinne Magdelaine, Anne-Sophie Lia
Publikováno v:
Computational and Structural Biotechnology Journal, Vol 18, Iss , Pp 2095-2099 (2020)
Next Generation Sequencing (NGS) using capture or amplicons strategies allows the detection of a large number of mutations increasing the rate of positive diagnosis for the patients. However, most of the detected mutations are Single Nucleotide Varia
Externí odkaz:
https://doaj.org/article/3df217712c8f4bfbb077490f2f9795bf
Autor:
Robin Chautard, Cécile Laroche-Raynaud, Anne-Sophie Lia, Pauline Chazelas, Paco Derouault, Franck Sturtz, Yasser Baaj, Alice Veauville-Merllié, Cécile Acquaviva, Frédéric Favreau, Pierre-Antoine Faye
Publikováno v:
BMC Medical Genomics, Vol 13, Iss 1, Pp 1-6 (2020)
Abstract Background Multiple acyl-CoA dehydrogenase deficiency (MADD), previously called glutaric aciduria type II, is a rare congenital metabolic disorder of fatty acids and amino acids oxidation, with recessive autosomal transmission. The prevalenc
Externí odkaz:
https://doaj.org/article/f82f78f6f14a4d479ed7ed90ec0b8056
Autor:
Laurent Magy, Pauline Chazelas, Laurence Richard, Nathalie Deschamps, Simon Frachet, Jean-Michel Vallat, Corinne Magdelaine, Frédéric Favreau, Flavien Bessaguet, Anne-Sophie Lia, Mathilde Duchesne
Publikováno v:
Biomedicines, Vol 10, Iss 8, p 2046 (2022)
CANVAS, a rare disorder responsible for late-onset ataxia of autosomal recessive inheritance, can be misdiagnosed. We investigated a series of eight patients with sensory neuropathy and/or an unexplained cough, who appeared to suffer from CANVAS, and
Externí odkaz:
https://doaj.org/article/7adb671fc7c64d91b1ecd08b8d3eec2e
Autor:
Thomas Kerforne, Frédéric Favreau, Tackwa Khalifeh, Souleymane Maiga, Geraldine Allain, Antoine Thierry, Manuel Dierick, Edouard Baulier, Clara Steichen, Thierry Hauet
Publikováno v:
Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-14 (2019)
Abstract Background Renal transplantation is increasingly associated with the presence of comorbidity factors such as dyslipidemia which could influence the graft outcome. We hypothesized that hypercholesterolemia could affect vascular repair process
Externí odkaz:
https://doaj.org/article/729bef12b52a4f9db37e5bad83d48b47
Autor:
Federica Miressi, Nesrine Benslimane, Frédéric Favreau, Marion Rassat, Laurence Richard, Sylvie Bourthoumieu, Cécile Laroche, Laurent Magy, Corinne Magdelaine, Franck Sturtz, Anne-Sophie Lia, Pierre-Antoine Faye
Publikováno v:
Biomedicines, Vol 9, Iss 8, p 945 (2021)
Mutations in the ganglioside-induced differentiation associated protein 1 (GDAP1) gene have been associated with demyelinating and axonal forms of Charcot-Marie-Tooth (CMT) disease, the most frequent hereditary peripheral neuropathy in humans. Previo
Externí odkaz:
https://doaj.org/article/25bc4625e4974443b2ae63e5200e85dc