TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa

Autor: Béatrice Bocquet, Caroline Borday, Nejla Erkilic, Daria Mamaeva, Alicia Donval, Christel Masson, Karine Parain, Karolina Kaminska, Mathieu Quinodoz, Irene Perea-Romero, Gema Garcia-Garcia, Carla Jimenez-Medina, Hassan Boukhaddaoui, Arthur Coget, Nicolas Leboucq, Giacomo Calzetti, Stefano Gandolfi, Antonio Percesepe, Valeria Barili, Vera Uliana, Marco Delsante, Francesca Bozzetti, Hendrik P.N. Scholl, Marta Corton, Carmen Ayuso, Jose M. Millan, Carlo Rivolta, Isabelle Meunier, Muriel Perron, Vasiliki Kalatzis

Publikováno v: JCI Insight, Vol 8, Iss 21 (2023)

Retinitis pigmentosa (RP) is the most common inherited retinal disease (IRD) and is characterized by photoreceptor degeneration and progressive vision loss. We report 4 patients presenting with RP from 3 unrelated families with variants in TBC1D32, w

Externí odkaz: https://doaj.org/article/95febfe0764a45129e5a016236db8fd5

Yap haploinsufficiency leads to Müller cell dysfunction and late-onset cone dystrophy

Autor: Juliette Bitard, Diana García-García, Jerome E. Roger, Christel Masson, Elodie-Kim Grellier, Muriel Perron

Publikováno v: Cell Death and Disease, Vol 11, Iss 8, Pp 1-15 (2020)
Cell Death and Disease
Cell Death and Disease, Nature Publishing Group, 2020, 11 (8), pp.631. ⟨10.1038/s41419-020-02860-9⟩
Cell Death & Disease

Hippo signalling regulates eye growth during embryogenesis through its effectors YAP and TAZ. Taking advantage of a Yap heterozygous mouse line, we here sought to examine its function in adult neural retina, where YAP expression is restricted to Mül

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9b087037dfea3bb76b2a7343f240bedc
http://link.springer.com/article/10.1038/s41419-020-02860-9

Alterations in the balance of tubulin glycylation and glutamylation in photoreceptors leads to retinal degeneration

Autor: Patricia Sousa, Ivan Bièche, Cecilia Rocha, Christel Masson, Olivia Tort, Montserrat Bosch Grau, Sudarshan Gadadhar, Carsten Janke, Sophie Vacher

Publikováno v: Journal of Cell Science
Journal of Cell Science, Company of Biologists, 2017, ⟨10.1242/jcs.199091⟩

Tubulin is subject to a wide variety of posttranslational modifications, which, as part of the tubulin code, are involved in the regulation of microtubule functions. Glycylation has so far predominantly been found in motile cilia and flagella, and ab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba736b5e7b4ce521a91bea5b8ea16c59
https://hal.archives-ouvertes.fr/hal-02376288/document

Author response: YAP controls retinal stem cell DNA replication timing and genomic stability

Autor: Kristine A. Henningfeld, Juliette Bitard, Marie Hedderich, Odile Bronchain, Romain Chemouny, Karine Parain, Caroline Borday, Muriel Perron, Morgane Locker, Pauline Cabochette, Guillermo A. Vega-Lopez, Christel Masson

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::84c54d1cae7c3674a61642cfdc07761d
https://doi.org/10.7554/elife.08488.023

Impact of DNA ligase IV on the fidelity of end joining in human cells

Autor: Boris Kysela, Céline Baldeyron, Penny A. Jeggo, Kostas G. Manolis, Michael R. Lieber, Julianne Smith, Dora Papadopoulo, Enriqueta Riballo, Christel Masson

Publikováno v: Nucleic Acids Research. 31:2157-2167

A DNA ligase IV (LIG4)‐null human pre‐B cell line and human cell lines with hypomorphic mutations in LIG4 are significantly impaired in the frequency and fidelity of end joining using an in vivo plasmid assay. Analysis of the null line demonstrat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5243fa51816b0472aeeb98b64fab6eae
https://doi.org/10.1093/nar/gkg317