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Deposit type : Notice

Successful Gene Therapy in the RPGRIP1-deficient Dog: a Large Model of Cone-Rod Dystrophy.

Elsa Lhériteau , Lolita Petit , Michel Weber , Guylène Le Meur , Jack-Yves Deschamps , et al.
Molecular Therapy, 2014, 22 (2), pp.265-77. ⟨10.1038/mt.2013.232⟩
Journal articles hal-00957330v1

The giant spectrin βV couples the molecular motors to phototransduction and Usher syndrome type I proteins along their trafficking route

Samantha Papal , Matteo Cortese , Kirian Legendre , Nasrin Sorusch , Joseph Dragavon , et al.
Human Molecular Genetics, 2013, 22 (18), pp.3773 - 3788. ⟨10.1093/hmg/ddt228⟩
Journal articles pasteur-03922387v1

Biased signaling through G-protein-coupled PROKR2 receptors harboring missense mutations

Oualid Sbai , Carine Monnier , Catherine Dode , Jean-Philippe Pin , Jean-Pierre Hardelin , et al.
FASEB Journal, 2014, 28 (8), pp.3734--44. ⟨10.1096/fj.13-243402⟩
Journal articles hal-01942940v1

Exocytotic Machineries of Vestibular Type I and Cochlear Ribbon Synapses Display Similar Intrinsic Otoferlin-Dependent Ca2+ Sensitivity But a Different Coupling to Ca2+ Channels

P. Vincent , Y. Bouleau , S. Safieddine , C. Petit , D. Dulon
Journal of Neuroscience, 2014, 34 (33), pp.10853-10869. ⟨10.1523/JNEUROSCI.0947-14.2014⟩
Journal articles hal-04178496v1

The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients

Séverine Marcos , Julie Sarfati , Chrystel Leroy , Corinne Fouveaut , Philippe Parent , et al.
The Journal of clinical endocrinology and metabolism, 2014, 99 (10), pp.E2138 - 43. ⟨10.1210/jc.2014-2110⟩
Journal articles hal-03404122v1

The retinal phenotype of Usher syndrome: Pathophysiological insights from animal models

Aziz El-Amraoui , Christine Petit
Comptes Rendus. Biologies, 2014, 337 (3), pp.167 - 177. ⟨10.1016/j.crvi.2013.12.004⟩
Journal articles pasteur-03922364v1