Institut Pasteur

Other

Centre National De La Recherche Scientifique

Sorbonne Université

Université Clermont Auvergne

The United States of America as Represented by the Department of Health

Centre Nationale De La Recherche Scientifique

National Institute of Health and Medical Research

Christine Petit

Jean-Luc Guesdon

Dominique Weil

Sandrine Marlin-Duvernois

Renaud Legouis

Jean-Pierre Hardelin

Jean-Claude Mazie

Genevieve Rougon

Nadia Soussi-Yanticostas

Catherine Sarailh

Olivier Ardouin

Françoise Denoyelle-Gryson

Francoise Denoyelle-Gryson

Asadollah Aghaie

Sandrine Marlin

Paul Avan

Sedigheh Delmaghani

Saaid Safieddine

Jean Defourny

Alice Emptoz

Georges Lutfalla

Fran&ccedil;oise Denoyelle-Gryson

Jacuqeline Levilliers

Jean-Michel Claverie

The present invention relates to the use of gasdermin, in particular of gasdermin A, gasdermin B, gasdermin C, gasdermin D, DFNA5 or DFNB59 (or pejvakin), and more particularly pejvakin for modulating cellular redox homeostasis. A particularly preferred use of gasdermin, in particular of gasdermin A, gasdermin B, gasdermin C, gasdermin D, DFNA5 or DFNB59 (or pejvakin), and more particularly pejvakin in the context of the present invention is as an antioxidant. The present invention also concerns a virally-mediated gene therapy for restoring genetically-impaired auditory and vestibular functions in subjects suffering from an Usher syndrome. More precisely, this gene therapy takes advantage of an AAV2/8 vector expressing at least one USH1 gene product, preferably SANS.

Prevention and/or treatment of hearing loss or impairment

A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in a wild form encodes a polypeptide implicated in hereditary sensory defect wherein said mutated purified polynucleotide presents a mutation responsible for prelingual non-syndromic deafness selected from the group consisting of a specific deletion of at least one nucleotide.

Mutation within the connexin 26 gene responsible for prelingual non-syndromic deafness and method of detection

A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in a wild form encodes a polypeptide implicated in hereditary sensory defect, wherein said mutated purified polynucleotide presents a mutation responsible for prelingual non-syndromic deafness selected from the group consisting of a specific deletion of at least one nucleotide.

A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in wildtype form encodes a polypeptide implicated in hereditary sensory defect, wherein said mutated purified polynucleotide presents a mutation responsible for prelingual non-syndromic deafness selected from the group consisting of a specific deletion of at least one nucleotide.

KAL protein is identified the active agent in a therapeutic composition for treatment of injury to nerve tissue, including spinal cord tissue, as well as support of treatment for renal grafts. Additionally, therapeutic treatment of renal injury, and kidney transplantation and renal surgery, is effected by administration of KAL protein. The therapeutic agent may be administered locally, or intravenously. Retinal disorders may be similarly treated.

Use of the KAL protein and treatment with the KAL protein in treatment of retinal, renal, neuronal and neural injury

KAL protein is identified as the active agent in a therapeutic composition for treatment of injury to nerve tissue, including spinal cord tissue, as well as support of treatment for renal grafts. Additionally, therapeutic treatment of renal injury, and kidney transplantation and renal surgery, is effected by administration of KAL protein. The therapeutic agent may be administered locally, or intravenously. Retinal disorders may be similarly treated.

A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in wild-type form encodes a polypeptide implicated in hereditary sensory defect, wherein the mutated purified polynucleotide presents a mutation responsible for prelingual non-syndromic deafness selected from the group consisting of a specific deletion of at least one nucleotide.

Use of the KAL protein and treatment with the KAL protein in treatment

A purified polynucleotide having a chain of nucleotides corresponding to a mutated sequence, which in a wild type form encodes a polypeptide implicated in hereditary sensory defect, wherein said mutated purified polynucleotide presents a mutation responsible for prelingual non-syndromic deafness selected from the group consisting of a specific deletion of at least one nucleotide.

Mutated polynucleotide corresponding to a mutation responsible for

Gene associated with X linked Kallmann syndrome and diagnostic

Growing community of inventors

Le Plessis-Robinson, France

Christine Petit