Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Suzie Lefebvre"'
Autor:
Badih Salman, Emeline Bon, Perrine Delers, Steve Cottin, Elena Pasho, Sorana Ciura, Delphine Sapaly, Suzie Lefebvre
Publikováno v:
International Journal of Molecular Sciences, Vol 25, Iss 18, p 10039 (2024)
Dysregulated RNA metabolism caused by SMN deficiency leads to motor neuron disease spinal muscular atrophy (SMA). Current therapies improve patient outcomes but achieve no definite cure, prompting renewed efforts to better understand disease mechanis
Externí odkaz:
https://doaj.org/article/76667a9dec574c4f8c6d478057aaa998
Autor:
Perrine Delers, Delphine Sapaly, Badih Salman, Stephan De Waard, Michel De Waard, Suzie Lefebvre
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-18 (2022)
Abstract SMN protein deficiency causes motoneuron disease spinal muscular atrophy (SMA). SMN-based therapies improve patient motor symptoms to variable degrees. An early hallmark of SMA is the perturbation of the neuromuscular junction (NMJ), a synap
Externí odkaz:
https://doaj.org/article/c2b81653e55542179ee659fef4c36a91
Autor:
Delphine Sapaly, Perrine Delers, Jennifer Coridon, Badih Salman, Franck Letourneur, Florent Dumont, Suzie Lefebvre
Publikováno v:
Frontiers in Molecular Biosciences, Vol 7 (2020)
The motor neurodegenerative disease spinal muscular atrophy (SMA) is caused by alterations of the survival motor neuron 1 (SMN1) gene involved in RNA metabolism. Although the disease mechanisms are not completely elucidated, SMN protein deficiency le
Externí odkaz:
https://doaj.org/article/c4043ead41ba4398881b30204cdd5002
Autor:
Tomoko Wakabayashi, Takeshi Iwatsubo, Vincent Goffin, Anne-Sophie Armand, Tristan J. M. Gonçalves, Suzie Lefebvre, Franck Oury, Florence Boutillon
Publikováno v:
Scientific Reports
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Scientific Reports, Vol 9, Iss 1, Pp 1-12 (2019)
Fusion of myoblasts into multinucleated myofibers is crucial for skeletal muscle development and regeneration. However, the mechanisms controlling this process remain to be determined. Here we identified the involvement of a new extracellular matrix
Autor:
François Girardet, Léo Houdebine, Jean-François Bureau, Gwendoline Quérol, Olivier Biondi, Suzie Lefebvre, Kevinee Khoobarry, Delphine Sapaly, Anne-Sophie Armand, Christophe Chanoine, Frédéric Charbonnier, Philippe Burlet, Matthieu Dos Santos, Perrine Delers
Publikováno v:
Scientific Reports
Scientific Reports, Nature Publishing Group, 2018, 8 (1), pp.2075. ⟨10.1038/s41598-018-20219-1⟩
Scientific Reports, Vol 8, Iss 1, Pp 1-17 (2018)
Scientific Reports, 2018, 8 (1), pp.2075. ⟨10.1038/s41598-018-20219-1⟩
Scientific Reports, Nature Publishing Group, 2018, 8 (1), pp.2075. ⟨10.1038/s41598-018-20219-1⟩
Scientific Reports, Vol 8, Iss 1, Pp 1-17 (2018)
Scientific Reports, 2018, 8 (1), pp.2075. ⟨10.1038/s41598-018-20219-1⟩
International audience; The hereditary neurodegenerative disorder spinal muscular atrophy (SMA) is characterized by the loss of spinal cord motor neurons and skeletal muscle atrophy. SMA is caused by mutations of the survival motor neuron (SMN) gene
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2edbe65306c86fca81ae82b1e5743a3d
https://hal-pasteur.archives-ouvertes.fr/pasteur-02090360/file/s41598-018-20219-1.pdf
https://hal-pasteur.archives-ouvertes.fr/pasteur-02090360/file/s41598-018-20219-1.pdf
Autor:
Anne-Sophie Armand, Florence Boutillon, Vincent Goffin, Tomoko Wakabayashi, Suzie Lefebvre, Tristan J. M. Gonçalves, Franck Oury, Takeshi Iwatsubo
Publikováno v:
Scientific Reports, Vol 9, Iss 1, Pp 1-1 (2019)
Scientific Reports
Scientific Reports
Fusion of myoblasts into multinucleated myofibers is crucial for skeletal muscle development and regeneration. However, the mechanisms controlling this process remain to be determined. Here we identified the involvement of a new extracellular matrix
Publikováno v:
Journal of Neurochemistry. 47:477-483
Exhaustive in vitro dephosphorylation of porcine neurofilaments (NFs) by alkaline or acid phospha-tase did not cause a dissociation of the 210–kD (NF-H), 160–kD (NF-M), or 70–kD (NF-L) subunits and had no effect on the reassembly of NFs from ur
Autor:
Ziad Rifai, Didier Cros, Jon Andoni Urtizberea, Michel Dessainte, Mohammed Zarhrate, Jean G. Rebeiz, A. Barois, Brigitte Estournet, Suzie Lefebvre, Kate Bushby, John Pearn, Raymond D. Adams, Louis Viollet, Elodie Vial, Bernard Kleinknecht, Philippe Burlet, Arnold Munnich
Publikováno v:
Annals of Neurology. 51:585-592
Distal spinal muscular atrophy is a heterogeneous group of neuromuscular disorders caused by progressive anterior horn cell degeneration and characterized by progressive motor weakness and muscular atrophy, predominantly in the distal parts of the li
Autor:
Nathalie Drouot, Suzie Lefebvre, Thierry Frebourg, Arnold Munnich, Elodie Vial, Françoise Charbonnier, Pascale Saugier-Veber
Publikováno v:
Journal of Medical Genetics. 38:240-243
Editor—With a prevalence of 1/6000 live births, spinal muscular atrophy (SMA) represents the second most common fatal autosomal recessive disorder after cystic fibrosis.1 2 SMA is characterised by the degeneration of anterior horn cells of the spin
Autor:
Suzie Lefebvre, Frédéric Charbonnier, Nissrine Daou, Christophe Chanoine, Sylvie Lécolle, Anne-Sophie Armand, Bruno Della Gaspera
Publikováno v:
Development (Cambridge, England). 140(24)
The calcineurin/NFAT (nuclear factor of activated T-cells) signaling pathway is involved in the modulation of the adult muscle fiber type, but its role in the establishment of the muscle phenotype remains elusive. Here, we show that the NFAT member N