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of 3
pro vyhledávání: '"Badih Salman"'
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