Vestibular Deficits in Deafness: Clinical Presentation, Animal Modeling, and Treatment Solutions

Autor: Audrey Maudoux, Sandrine Vitry, Aziz El-Amraoui

Publikováno v: Frontiers in Neurology, Vol 13 (2022)

The inner ear is responsible for both hearing and balance. These functions are dependent on the correct functioning of mechanosensitive hair cells, which convert sound- and motion-induced stimuli into electrical signals conveyed to the brain. During

Externí odkaz: https://doaj.org/article/54c3caf06d0f40498f767cffc00940e8

Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice.

Autor: Jérôme Ausseil, Nathalie Desmaris, Stéphanie Bigou, Ruben Attali, Sébastien Corbineau, Sandrine Vitry, Mathieu Parent, David Cheillan, Maria Fuller, Irène Maire, Marie-Thérèse Vanier, Jean-Michel Heard

Publikováno v: PLoS ONE, Vol 3, Iss 5, p e2296 (2008)

BackgroundIn mucopolysaccharidosis type IIIB, a lysosomal storage disease causing early onset mental retardation in children, the production of abnormal oligosaccharidic fragments of heparan sulfate is associated with severe neuropathology and chroni

Externí odkaz: https://doaj.org/article/d00cced0622248f8a8442294492409c5

A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans

Autor: Henry Houlden, Thomas Haaf, Pratishtha Varshney, Christian Beetz, Hamid Galehdari, Lucy A Dunbar, Alireza Sedaghat, Richard J.H. Smith, Michael R. Bowl, Aziz El-Amraoui, Kevin T. Booth, David Murphy, Neda Mazaheri, Sandrine Vitry, Kumar N. Alagramam, Ben Fowler, Shruthi VijayKumar, Aboulfazl Rad, Hela Azaiez, Cassidy Petree, Barbara Vona, Sheng-Jia Lin, Gholamreza Shariati, Reza Maroofian, Franz Rüschendorf, Gaurav K. Varshney

Publikováno v: Human Genetics
Human Genetics, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩
Human Genetics, Springer Verlag, 2021, 140 (6), pp.915-931. ⟨10.1007/s00439-020-02254-z⟩

Deafness, the most frequent sensory deficit in humans, is extremely heterogeneous with hundreds of genes involved. Clinical and genetic analyses of an extended consanguineous family with pre-lingual, moderate-to-profound autosomal recessive sensorine

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4ec2c6de213429b2f5213b9170fe9c29
https://doi.org/10.1007/s00439-020-02254-z

Structure-based optimization of a PDZ binding motif within a viral peptide stimulates neurite outgrowth

Autor: Cynthia Lefebvre-Omar, Alain Chaffotte, Florent Delhommel, Christophe Prehaud, Elouan Terrien, Sandrine Vitry, Renaud Vincentelli, Clara Bernard, Zakir Khan, Kevin Ricquier, Delphine Bohl, Monique Lafon, Nicolas Wolff, Henri Buc, Juan Ramirez

Publikováno v: Journal of Biological Chemistry
Journal of Biological Chemistry, 2019, 294 (37), pp.137555-13768. ⟨10.1074/jbc.RA119.008238⟩
Journal of Biological Chemistry, American Society for Biochemistry and Molecular Biology, 2019, 294 (37), pp.137555-13768. ⟨10.1074/jbc.RA119.008238⟩
J Biol Chem

International audience; Protection of neuronal homeostasis is a major goal in the management of neurodegenerative diseases. Microtubule-associated Ser/Thre kinase 2 (MAST2), inhibits neurite outgrowth, and its inhibition therefore represents a potent

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0c108421b3322208c51d55c58fe9124
https://hal-pasteur.archives-ouvertes.fr/pasteur-02271324

Botulinum Neurotoxin Type B Uses a Distinct Entry Pathway Mediated By Cdc42 Into Intestinal Cells Versus Neuronal Cells

Autor: Marie Voillequin, Michel R. Popoff, Christelle Mazuet, Sandrine Vitry, Alain Vandewalle, Christian Lévêque, Carolina Varela Chavez, Chloé Connan

Publikováno v: Cellular Microbiology
Cellular Microbiology, Wiley, 2017, ⟨10.1111/cmi.12738⟩
Cellular Microbiology, 2017, ⟨10.1111/cmi.12738⟩

Botulinum neurotoxins (BoNTs) are responsible for severe flaccid paralysis by inhibiting the release of acetylcholine at the neuromuscular junctions. BoNT type B (BoNT/B) most often induces mild forms of botulism with predominant dysautonomic symptom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::632b34acf4b9a1427908bfce32c44535
https://hal-pasteur.archives-ouvertes.fr/pasteur-01493360