The paralysé (par) mouse neurological mutation maps to a 9 Mbp (4 cM) interval of mouse chromosome 18

Autor: Lino Silva Neto, Asadollah Aghaie, Jean-Louis Guénet, Ana Lúcia Brunialti Godard

Publikováno v: Genetics and Molecular Biology, Vol 28, Iss 2, Pp 201-204 (2005)

The Paralysé mutation is a spontaneous neuromuscular mutation, first observed in 1980 at the Pasteur Institute, which is transmitted by the autosomal recessive par allele. Affected homozygote par/par mice rarely survive beyond 16 days of age and at

Externí odkaz: https://doaj.org/article/243bd168fda94ca2971b8f3d90fbd45f

Mutations in CDC14A , Encoding a Protein Phosphatase Involved in Hair Cell Ciliogenesis, Cause Autosomal-Recessive Severe to Profound Deafness

Autor: Zied Riahi, Christine Petit, Sébastien Chardenoux, Hala El Hachmi, Crystel Bonnet, Sedigheh Delmaghani, Philippe Herbomel, Isabelle Perfettini, Yosra Bouyacoub, Ahmed Houmeida, Jean-Pierre Hardelin, Asadollah Aghaie

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 2016, 98 (6), pp.1266-1270. ⟨10.1016/j.ajhg.2016.04.015⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2016, 98 (6), pp.1266-1270. ⟨10.1016/j.ajhg.2016.04.015⟩

International audience; By genetic linkage analysis in a large consanguineous Iranian family with eleven individuals affected by severe to profound congenital deafness, we were able to define a 2.8 Mb critical interval (at chromosome 1p21.2-1p21.1) f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43ac7997fff065ea9b2915b82ce4555e
https://doi.org/10.1016/j.ajhg.2016.04.015

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice

Autor: Cataldo Schietroma, Iman Sahly, Diane Carette, Andrea Lelli, Elise Pepermans, Christine Petit, José-Alain Sahel, Vincent Michel, Jean-Pierre Hardelin, Aziz El-Amraoui, Amrit Estivalet, Amel Bahloul, Asadollah Aghaie, Inga Ebermann, Eric Dufour, Dominique Weil, Isabelle Perfettini, Maria Iribarne

Publikováno v: The journal of cell biology
The Journal of Cell Biology
The Journal of Cell Biology; Vol 199

Mice are a poor model for retinal defects caused by type I Usher syndrome (USH1) because their photoreceptors have almost no calyceal processes, the structures in which all USH1 proteins are detected in other vertebrates.
The mechanisms underlyi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::110304185e2e0022d6fbb15a3b14a0bf
https://doi.org/10.1083/jcb.201202012

Mutations in the gene encoding pejvakin, a newly identified protein of the afferent auditory pathway, cause DFNB59 auditory neuropathy

Autor: Guy Van Camp, Francisco J. del Castillo, Lut Van Laer, Nir Ben-Tal, Paul Avan, Uri Ron, Christine Petit, Michel Leibovici, Vincent Michel, Asadollah Aghaie, Sedigheh Delmaghani, Dominique Weil, Francina Langa, G. Mark Lathrop

Publikováno v: Nature genetics

Auditory neuropathy is a particular type of hearing impairment in which neural transmission of the auditory signal is impaired, while cochlear outer hair cells remain functional. Here we report on DFNB59, a newly identified gene on chromosome 2q31.1-

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b639d5edc6a332082859288cf119a8c4
https://doi.org/10.1038/ng1829

New Insights into the Alternative d-Glucarate Degradation Pathway

Autor: Marielle Besnard-Gonnet, Véronique de Berardinis, Annett Kreimeyer, Peggy Sirven, Gabor Gyapay, Delphine Muselet, Marcel Salanoubat, Asadollah Aghaie, Alain Perret, Sabine Tricot, Christophe Lechaplais

Publikováno v: Journal of Biological Chemistry
Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2008, 283 (23), pp.15638-15646. ⟨10.1074/jbc.M800487200⟩
Journal of Biological Chemistry, 2008, 283 (23), pp.15638-15646. ⟨10.1074/jbc.M800487200⟩

Although the d-glucarate degradation pathway is well characterized in Escherichia coli, genetic and biochemical information concerning the alternative pathway proposed in Pseudomonas species and Bacillus subtilis remains incomplete. Acinetobacter bay

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5bcbb636f50c141dfbaf3d8d3ea34fe
https://hal.archives-ouvertes.fr/hal-02503047