Výsledky vyhledávání - "Stephanie, Baulac"

Akademický článek

Targeted suppression of mTORC2 reduces seizures across models of epilepsy

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

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Akademický článek

Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis

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

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Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08d4781974a4cf55dfee7810558b2219
https://pubmed.ncbi.nlm.nih.gov/36067010

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Akademický článek

Functional γ-secretase complex assembly in Golgi/trans-Golgi network: interactions among presenilin, nicastrin, Aph1, Pen-2, and γ-secretase substrates

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

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