Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Stephanie, Baulac"'
Autor:
James Okoh, Jacqunae Mays, Alexandre Bacq, Juan A. Oses-Prieto, Stefka Tyanova, Chien-Ju Chen, Khalel Imanbeyev, Marion Doladilhe, Hongyi Zhou, Paymaan Jafar-Nejad, Alma Burlingame, Jeffrey Noebels, Stephanie Baulac, Mauro Costa-Mattioli
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-13 (2023)
Abstract Epilepsy is a neurological disorder that poses a major threat to public health. Hyperactivation of mTOR complex 1 (mTORC1) is believed to lead to abnormal network rhythmicity associated with epilepsy, and its inhibition is proposed to provid
Externí odkaz:
https://doaj.org/article/090b16c003544d13bd1df6abfc9cb943
Autor:
Antonio De Fusco, Maria Sabina Cerullo, Antonella Marte, Caterina Michetti, Alessandra Romei, Enrico Castroflorio, Stephanie Baulac, Fabio Benfenati
Publikováno v:
Neurobiology of Disease, Vol 139, Iss , Pp 104822- (2020)
DEP-domain containing 5 (DEPDC5) is part of the GATOR1 complex that functions as key inhibitor of the mechanistic target of rapamycin complex 1 (mTORC1). Loss-of-function mutations in DEPDC5 leading to mTOR hyperactivation have been identified as the
Externí odkaz:
https://doaj.org/article/5e49a26eb9364abf91820e753eb77667
Autor:
Athina, Ververi, Sara, Zagaglia, Lara, Menzies, Julia, Baptista, Richard, Caswell, Stephanie, Baulac, Sian, Ellard, Sally, Lynch, Genomics England Research, Consortium, Thomas S, Jacques, Maninder Singh, Chawla, Martin, Heier, Mari Ann, Kulseth, Inger-Lise, Mero, Anne Katrine, Våtevik, Ichraf, Kraoua, Hanene Ben, Rhouma, Thouraya Ben, Younes, Zouhour, Miladi, Ilhem Ben Youssef, Turki, Wendy D, Jones, Emma, Clement, Christin, Eltze, Kshitij, Mankad, Ashirwad, Merve, Jennifer, Parker, Bethan, Hoskins, Ronit, Pressler, Sniya, Sudhakar, Catherine, DeVile, Tessa, Homfray, Marios, Kaliakatsos, Prab Prabhakar, Ponnudas, Robert, Robinson, Sara Margrete Bøen, Keim, Imen, Habibi, Alexandre, Reymond, Sanjay M, Sisodiya, Jane A, Hurst
Publikováno v:
Human molecular genetics.
DEPDC5 (DEP Domain-Containing Protein 5) encodes an inhibitory component of the mammalian target of rapamycin (mTOR) pathway and is commonly implicated in sporadic and familial focal epilepsies, both non-lesional and in association with focal cortica
Autor:
Stephanie Baulac, Matthew J LaVoie, W.Taylor Kimberly, Jennifer Strahle, Michael S Wolfe, Dennis J Selkoe, Weiming Xia
Publikováno v:
Neurobiology of Disease, Vol 14, Iss 2, Pp 194-204 (2003)
γ-Secretase is a proteolytic complex whose substrates include Notch, β-amyloid precursor protein (APP), and several other type I transmembrane proteins. Presenilin (PS) and nicastrin are known components of this high-molecular-weight complex, and r
Externí odkaz:
https://doaj.org/article/785261d72ba441759d186202e3adcd89
Publikováno v:
Advances in neurology. 95