Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Pierre-Antoine Faye"'
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:
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
Publikováno v:
Neurobiology of Stress, Vol 14, Iss , Pp 100305- (2021)
The relationships between psychological stress and cognitive functions are still to be defined despite some recent progress. Clinically, we noticed that patients with Down syndrome (DS) may develop rapid neurocognitive decline and Alzheimer's disease
Externí odkaz:
https://doaj.org/article/d1ac89a836514d3483b55b3d381f6064
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
Autor:
Federica Miressi, Corinne Magdelaine, Pascal Cintas, Sylvie Bourthoumieux, Angélique Nizou, Paco Derouault, Frédéric Favreau, Franck Sturtz, Pierre-Antoine Faye, Anne-Sophie Lia
Publikováno v:
Brain Sciences, Vol 10, Iss 12, p 986 (2020)
Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited disorders affecting the peripheral nervous system, with a prevalence of 1/2500. So far, mutations in more than 80 genes have been identified causing either demyelinating form
Externí odkaz:
https://doaj.org/article/a06c58a4f4064c2fb0bc6a575e38454e
Autor:
Sarah Mafi, Cécile Laroche-Raynaud, Pauline Chazelas, Anne-Sophie Lia, Paco Derouault, Franck Sturtz, Yasser Baaj, Rachel Froget, Marlène Rio, Jean-François Benoist, François Poumeaud, Frédéric Favreau, Pierre-Antoine Faye
Publikováno v:
Brain Sciences, Vol 10, Iss 11, p 762 (2020)
Cerebral folate deficiency (CFD) is a neurological disorder characterized by low levels of 5-methyltetrahydrofolate (5-MTHF) in the cerebrospinal fluid (CSF). The prevalence of this autosomal recessive disorder is estimated to be FOLR1) encoding the
Externí odkaz:
https://doaj.org/article/2fe1ad4b6fc94ff9900d767627665a25
Autor:
Pierre-Antoine Faye, Nicolas Vedrenne, Federica Miressi, Marion Rassat, Sergii Romanenko, Laurence Richard, Sylvie Bourthoumieu, Benoît Funalot, Franck Sturtz, Frederic Favreau, Anne-Sophie Lia
Publikováno v:
Brain Sciences, Vol 10, Iss 7, p 407 (2020)
Modelling rare neurogenetic diseases to develop new therapeutic strategies is highly challenging. The use of human-induced pluripotent stem cells (hiPSCs) is a powerful approach to obtain specialized cells from patients. For hereditary peripheral neu
Externí odkaz:
https://doaj.org/article/0493c22d9abb49f1be20e23aec3ee3c7