Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Camille Rabesahala de Meritens"'
Autor:
Yadan Zhang, Camille Rabesahala de Meritens, Astrid Beckmann, F. Anthony Lai, Spyros Zissimopoulos
Publikováno v:
Frontiers in Physiology, Vol 13 (2022)
The ryanodine receptor (RyR) is a homotetrameric channel mediating sarcoplasmic reticulum Ca2+ release required for skeletal and cardiac muscle contraction. Mutations in RyR1 and RyR2 lead to life-threatening malignant hyperthermia episodes and ventr
Externí odkaz:
https://doaj.org/article/97f97b1a7d2f4f96b46f90287f72e19c
Publikováno v:
Molecular Brain, Vol 13, Iss 1, Pp 1-4 (2020)
Abstract Mutations in the FUS gene cause a subset of ALS cases (ALS-FUS). The majority of FUS mutations are missense mutations affecting the nuclear localisation signal (NLS) of FUS. In addition, a number of frameshift mutations which result in compl
Externí odkaz:
https://doaj.org/article/63fa847acb0744858ed38a40f978c4a8
Autor:
Louisa Johnson, Camille Rabesahala de Meritens, Dimitris Parthimos, Mark L. Bannister, NL Thomas, Spyros Zissimopoulos, Francis Anthony Lai, Esizaze Ozekhome-Mike, Monika Seidel
Publikováno v:
Cardiovascular Research
Aims The cardiac ryanodine receptor (RyR2), which mediates intracellular Ca2+ release to trigger cardiomyocyte contraction, participates in development of acquired and inherited arrhythmogenic cardiac disease. This study was undertaken to characteriz
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79022850bc12b7ed3ea3308ac327fc22
https://doi.org/10.1093/cvr/cvaa043
https://doi.org/10.1093/cvr/cvaa043
Autor:
Yuriana Aguilar-Sanchez, Olivier Villejoubert, Feliciano Protasi, Liheng Yin, Camille Rabesahala de Meritens, Julio L. Álvarez, Pascale Gerbaud, Ernst Niggli, Romain Perrier, Pierre Joanne, Héctor H. Valdivia, F. Anthony Lai, Spyros Zissimopoulos, Riccardo Rizzetto, Esther Zorio, Elena Marques-Sule, Linwei Li, Yue Yi Wang, Yadan Zhang, Alexandra Zahradnikova Jr, Carmen R. Valdivia, Simona Boncompagni, Jean-Pierre Benitah, Valérie Nicolas, Ana Maria Gomez, Josefina Ramos-Franco, Philippe Mateo, Miguel Fernandez-Tenorio
Publikováno v:
CIRCULATION RESEARCH
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Circulation Research
Circulation Research, American Heart Association, 2021, 129 (3), pp.e35-e52. ⟨10.1161/CIRCRESAHA.121.319094⟩
Circ Res
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Circulation Research
Circulation Research, American Heart Association, 2021, 129 (3), pp.e35-e52. ⟨10.1161/CIRCRESAHA.121.319094⟩
Circ Res
Rationale: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare disease, manifested by syncope or sudden death in children or young adults under stress conditions. Mutations in the Ca 2+ release channel/RyR2 (type 2 ryanodine recept
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::65e2200fcbc412196d1bcdf3e2b9efab
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=14580
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=14580
Autor:
Tatyana A. Shelkovnikova, Wenbin Wei, Tetsuro Hirose, Camille Rabesahala de Meritens, Vsevolod Telezhkin, Johnathan Cooper-Knock, Natalia Ninkina, Vladimir L. Buchman, Shinichi Nakagawa, Michail S. Kukharsky, Haiyan An
Publikováno v:
Translational Psychiatry
Translational Psychiatry, Vol 10, Iss 1, Pp 1-19 (2020)
Translational psychiatry, 2020, Vol.10(1), pp.171 [Peer Reviewed Journal]
Translational Psychiatry, Vol 10, Iss 1, Pp 1-19 (2020)
Translational psychiatry, 2020, Vol.10(1), pp.171 [Peer Reviewed Journal]
NEAT1 is a highly and ubiquitously expressed long non-coding RNA (lncRNA) which serves as an important regulator of cellular stress response. However, the physiological role of NEAT1 in the central nervous system (CNS) is still poorly understood. In
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60f80c863b3ad5e60388ddd3b2ac7c48
https://doi.org/10.1038/s41398-020-0854-2
https://doi.org/10.1038/s41398-020-0854-2
Publikováno v:
Molecular Brain
Molecular Brain, Vol 13, Iss 1, Pp 1-4 (2020)
Molecular Brain, Vol 13, Iss 1, Pp 1-4 (2020)
Mutations in the FUS gene cause a subset of ALS cases (ALS-FUS). The majority of FUS mutations are missense mutations affecting the nuclear localisation signal (NLS) of FUS. In addition, a number of frameshift mutations which result in complete NLS d
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ff2542fc5a1c36eaea0e533e61dd8f2f
http://europepmc.org/articles/PMC7222445
http://europepmc.org/articles/PMC7222445
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1868:119058
All cells contain ribonucleoprotein (RNP) granules – large membraneless structures composed of RNA and proteins. Recent breakthroughs in RNP granule research have brought a new appreciation of their crucial role in organising virtually all cellular
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8698523f35aa4c793bb1fcc289776f7e
https://doi.org/10.1016/j.bbamcr.2021.119058
https://doi.org/10.1016/j.bbamcr.2021.119058