Abstract: The present invention provides compositions and methods for treating a myopathy. In certain embodiments, the invention provides compositions and methods for treating, improving muscle function, and prolonging survival in a subject with X-linked myotubular myopathy (XLMTM). The present invention provides a method comprising systemic administration of a composition that induces the increased expression of myotubularin in the muscle of a subject. The invention provides sustained regional and global increases in muscle function.

Abstract: The present invention relates to a method for treating a Leber congenital amaurosis in a patient harbouring the mutation c.2991+1655 A>G in the CEP290 gene, comprising the step of administering to said patient at least one antisense oligonucleotide complementary to nucleic acid sequence that is necessary for preventing splicing of the cryptic exon inserted into the mutant c.

Abstract: Inhibitors of the endoplasmic reticulum associated degradation (ERAD) pathway, particularly inhibitors of mannosidase I, are used for the preparation of a medicinal product intended to treat sarcoglycanopathies.

Abstract: Methods for increasing the efficiency of target tissue penetration of an adeno-associated virus (AAV) vector in a patient are provided. In some aspects, the methods involve inhibiting the interaction of the serum protein galectin 3 binding protein (G3BP) with AAV vector. Further provided are methods for reducing tissue distribution of a virus or for neutralizing a virus harbored by an organ destined for transplant, or newly transplanted, by administering a composition comprising G3BP.

Abstract: A composition comprising a calpain-3 inhibitor for treating muscular dystrophies and cardiomyopathies, in particular tibial muscular dystrophy (TMD).

Abstract: The invention concerns an adeno-associated viral vector comprising: a U7 type modified snRNA sequence; the native U7 promoter; at least one antisense sequence directed against at least one splice site of at least one exon, the said exon encoding a dispensable domain of dystrophin.

Abstract: Inhibitors of the endoplasmic reticulum associated degradation (ERAD) pathway, particularly inhibitors of mannosidase I, are used for the preparation of a medicinal product intended to treat sarcoglycanopathies.

Abstract: Inhibitors of the endoplasmic reticulum associated degradation (ERAD) pathway, particularly inhibitors of mannosidase I, are used to treat sarcoglycanopathies.

Abstract: The present invention relates to methods for the production of biopharmaceuticals implementing a baculovirus-based system. These methods advantageously allow the production of biopharmaceuticals with reduced or no contaminating baculoviral virions.

Abstract: The present invention relates to compositions and methods, in particular to methods based on systemic administration of scAAV, for delivering genes to cells of the retina of mammals, and in particular to photoreceptor cells, ganglion cells, glial cells, inner nuclear layer cells or cells of the retinal pigmented epithelium.

Abstract: The invention concerns an adeno-associated viral vector comprising: a U7 type modified snRNA sequence; the native U7 promoter; at least one antisense sequence directed against at least one splice site of at least one exon, the said exon encoding a dispensable domain of dystrophin.

Abstract: The present invention relates to a composition comprising: a first adeno-associated viral (AAV) vector comprising: i) a 5?ITR (Inverted Terminal Repeat) sequence of AAV; ii) a portion of gene placed under the control of a promoter; iii) a sequence comprising a splice donor site; iv) a 3?ITR sequence of AAV; and/or a second adeno-associated viral (AAV) vector comprising; v) a 5?ITR (Inverted Terminal Repeat) sequence of AAV; vi) a sequence comprising a splice acceptor site; vii) a portion of gene; viii) a 3?ITR sequence of AAV. The combination of the portions of gene carried by the first and second AAV vectors comprises an open reading frame which encodes a functional dysferlin. In addition, the combination of the sequence comprising the splice donor site and the sequence comprising the splice acceptor site contains all the elements necessary for the splicing, advantageously derived from a natural intron of the dysferlin gene.

Abstract: Inhibitors of the endoplasmic reticulum associated degradation (ERAD) pathway, particularly inhibitors of mannosidase I, are used for the preparation of a medicinal product intended to treat sarcoglycanopathies.

Abstract: A pharmaceutical composition comprising CD4+ CD25+ regulatory T cells specific for at least one minor histocompatibility antigen, and stem cells, advantageously haematopoietic, carrying at least the antigen can be used as a medicament for increasing the immune tolerance of a histocompatible host.

Abstract: The present invention relates to the use of small interfering RNAs (siRNAs) for silencing gene expression in antigen-presenting cells such as dendritic cells, in particular for immunomodulatory purposes.

Abstract: Disclosed is a plasmid comprising a replicative retroviral genome, characterized in that it contains a psi (&psgr;) sequence, gag and pol sequences originated from the genome of an MLV virus, and a chimeric env sequence. The chimeric env sequence comprises a region corresponding to part of the envelope originating from the genome of an MLV virus and a region corresponding to part of the envelope originating from the genome of a GaLV virus.

Abstract: The invention is derived from the identification of mutations in the GJB6 gene, responsible for Clouston's syndrome. The symptomatology of said syndrome suggests that the GJB6 coding for connexin 30 (Cx-30), is most probably involved also in other types of alopecia with genetic susceptibility, in particular non-pathological. Therefore, the invention concerns the GJB6 gene sequence bearing at least one of the mutations 31 (G>A) and 263 (C>T), responsible for Clouston's syndrome, and the use of constructs comprising the GJB6 gene, both for preparing pharmaceutical compositions for treating Clouston's syndrome and/or certain disorders of the body hair system, and for screening molecules likely to have a beneficial effect in the treatment of alopecia. The invention also concerns methods for diagnosing Clouston's syndrome.