Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Elodie M. Richard"'
Autor:
Elodie M. Richard, Emilie Brun, Julia Korchagina, Lucie Crouzier, Corentin Affortit, Stacy Alves, Chantal Cazevieille, Anne-Laure Mausset-Bonnefont, Marc Lenoir, Jean-Luc Puel, Tangui Maurice, Marc Thiry, Jing Wang, Benjamin Delprat
Publikováno v:
Cell Death and Disease, Vol 14, Iss 6, Pp 1-15 (2023)
Abstract Wolfram syndrome (WS) is a rare neurodegenerative disorder encompassing diabetes mellitus, diabetes insipidus, optic atrophy, hearing loss (HL) as well as neurological disorders. None of the animal models of the pathology are presenting with
Externí odkaz:
https://doaj.org/article/8d88bae857534b24b8b855292e231ccc
Autor:
Lucie Crouzier, Elodie M. Richard, Camille Diez, Morgane Denus, Amandine Peyrel, Hala Alzaeem, Nicolas Cubedo, Thomas Delaunay, Tangui Maurice, Benjamin Delprat
Publikováno v:
Molecular Therapy: Methods & Clinical Development, Vol 27, Iss , Pp 295-308 (2022)
Wolfram syndrome (WS) is a rare neurodegenerative disease resulting in deafness, optic atrophy, diabetes, and neurological disorders. Currently, no treatment is available for patients. The mutated gene, WFS1, encodes an endoplasmic reticulum (ER) pro
Externí odkaz:
https://doaj.org/article/8a0f00345eee450bbc8aff2f87918237
Autor:
Lucie Crouzier, Camille Diez, Elodie M. Richard, Nicolas Cubedo, Clément Barbereau, Mireille Rossel, Thomas Delaunay, Tangui Maurice, Benjamin Delprat
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Retinitis pigmentosa (RP) is one of the most common forms of inherited retinal degeneration with 1/4,000 people being affected. The vision alteration primarily begins with rod photoreceptor degeneration, then the degenerative process continues with c
Externí odkaz:
https://doaj.org/article/0a863bc44c4545b5addacfae15ecf40d
Autor:
Lucie Crouzier, Elodie M Richard, Camille Diez, Hala Alzaeem, Morgane Denus, Nicolas Cubedo, Thomas Delaunay, Emily Glendenning, Sarah Baxendale, Jean-Charles Liévens, Tanya T Whitfield, Tangui Maurice, Benjamin Delprat
Publikováno v:
Human Molecular Genetics
Human Molecular Genetics, 2022, 31 (16), pp.2711-2727. ⟨10.1093/hmg/ddac065⟩
Human Molecular Genetics, 2022, 31 (16), pp.2711-2727. ⟨10.1093/hmg/ddac065⟩
Wolfram syndrome (WS) is a rare genetic disease characterized by diabetes, optic atrophy and deafness. Patients die at 35 years of age, mainly from respiratory failure or dysphagia. Unfortunately, there is no treatment to block the progression of sym
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::264676d4c05fd25524ac45972707366f
https://hal.umontpellier.fr/hal-03757700
https://hal.umontpellier.fr/hal-03757700
Autor:
Lucie Crouzier, Alberto Danese, Yuko Yasui, Elodie M. Richard, Jean-Charles Liévens, Simone Patergnani, Simon Couly, Camille Diez, Morgane Denus, Nicolas Cubedo, Mireille Rossel, Marc Thiry, Tsung-Ping Su, Paolo Pinton, Tangui Maurice, Benjamin Delprat
Publikováno v:
Sci Transl Med
Science Translational Medicine
Science Translational Medicine, 2022, 14 (631), pp.eabh3763. ⟨10.1126/scitranslmed.abh3763⟩
Science Translational Medicine
Science Translational Medicine, 2022, 14 (631), pp.eabh3763. ⟨10.1126/scitranslmed.abh3763⟩
The Wolfram syndrome is a rare autosomal recessive disease affecting many organs with life-threatening consequences; currently, no treatment is available. The disease is caused by mutations in the WSF1 gene, coding for the protein wolframin, an endop
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8ef7b1079cbfb0413a4eca69cc7bdf0
https://europepmc.org/articles/PMC9516885/
https://europepmc.org/articles/PMC9516885/
Autor:
Mariella Simon, Elodie M Richard, Xinjian Wang, Mohsin Shahzad, Vincent H Huang, Tanveer A Qaiser, Prasanth Potluri, Sarah E Mahl, Antonio Davila, Sabiha Nazli, Saege Hancock, Margret Yu, Jay Gargus, Richard Chang, Nada Al-Sheqaih, William G Newman, Jose Abdenur, Arnold Starr, Rashmi Hegde, Thomas Dorn, Anke Busch, Eddie Park, Jie Wu, Hagen Schwenzer, Adrian Flierl, Catherine Florentz, Marie Sissler, Shaheen N Khan, Ronghua Li, Min-Xin Guan, Thomas B Friedman, Doris K Wu, Vincent Procaccio, Sheikh Riazuddin, Douglas C Wallace, Zubair M Ahmed, Taosheng Huang, Saima Riazuddin
Publikováno v:
PLoS Genetics, Vol 11, Iss 3, p e1005097 (2015)
Here we demonstrate association of variants in the mitochondrial asparaginyl-tRNA synthetase NARS2 with human hearing loss and Leigh syndrome. A homozygous missense mutation ([c.637G>T; p.Val213Phe]) is the underlying cause of nonsyndromic hearing lo
Externí odkaz:
https://doaj.org/article/85a622f2d8104bbe96b80ab1bc1bbc10
Autor:
Thomas J Jaworek, Elodie M Richard, Anna A Ivanova, Arnaud P J Giese, Daniel I Choo, Shaheen N Khan, Sheikh Riazuddin, Richard A Kahn, Saima Riazuddin
Publikováno v:
PLoS Genetics, Vol 9, Iss 9, p e1003774 (2013)
Exome sequencing coupled with homozygosity mapping was used to identify a transition mutation (c.794T>C; p.Leu265Ser) in ELMOD3 at the DFNB88 locus that is associated with nonsyndromic deafness in a large Pakistani family, PKDF468. The affected indiv
Externí odkaz:
https://doaj.org/article/a5d1d4f6ff8649c0a7c30c08573932df