Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Raphaëlle Riché"'
Autor:
Eric Samarut, Domitille Chalopin, Raphaëlle Riché, Marc Allard, Meijiang Liao, Pierre Drapeau
Publikováno v:
PLoS ONE, Vol 14, Iss 5, p e0216159 (2019)
Glycine receptors (GlyRs) are ligand-gated chloride channels mediating inhibitory neurotransmission in the brain stem and spinal cord. They function as pentamers composed of alpha and beta subunits for which 5 genes have been identified in human (GLR
Externí odkaz:
https://doaj.org/article/be41e4118bb241c0b194043186ed7fa0
Autor:
Nathalie Lepage, Izabella A. Pena, Eric Samarut, Kit-Yi Leung, Pierre Drapeau, Kyriakie Sarafoglou, Nicolas D.E. Greene, Raphaëlle Riché, Meijiang Liao, Lisa A. Schimmenti
Publikováno v:
JCI Insight. 3
Glycine encephalopathy (GE), or nonketotic hyperglycinemia (NKH), is a rare recessive genetic disease caused by defective glycine cleavage and characterized by increased accumulation of glycine in all tissues. Here, based on new case reports of GLDC
Autor:
Eric Samarut, Patrick Cossette, Liselotte Dufour, Marc Allard, Nadia Soussi-Yanicostas, Solène Renault, Rahma Hassan-Abdi, Pierre Drapeau, Amrutha Swaminathan, Meijiang Liao, Raphaëlle Riché
Publikováno v:
Epilepsia
Epilepsia, Wiley, 2018, 59 (11), pp.2061-2074. ⟨10.1111/epi.14576⟩
Epilepsia, Wiley, 2018, 59 (11), pp.2061-2074. ⟨10.1111/epi.14576⟩
International audience; Objective: In humans, mutations of the γ-aminobutyric acid receptor subunit 1 (GABRA1) cause either mild or severe generalized epilepsy. Although these epilepsy causing mutations have been shown to disrupt the receptor activi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8522e01c9dd97d255bad4168a716f30
https://hal.archives-ouvertes.fr/hal-02357189/file/Samarut_et_al-2018-Epilepsia.pdf
https://hal.archives-ouvertes.fr/hal-02357189/file/Samarut_et_al-2018-Epilepsia.pdf