摘要:
The present invention relates to methods for restoring the function of a mutated dysferlin comprising the step of preventing splicing of one or more exons which encode amino acid sequences that cause said dysferlin dysfunction. Particularly, the splicing of exon 32 is prevented. The present invention also relates to a method for treating a dysferlinopathy in a patient in need thereof, comprising the step of administering to said patient antisense oligonucleotides complementary to nucleic acid sequences that are necessary for correct splicing of one or more exons which encode amino acid sequences that cause said dysfunction. Particularly, the splicing of exon 32 is prevented.
摘要:
The present invention relates to methods for restoring the function of a mutated dysferlin comprising the step of preventing splicing of one or more exons which encode amino acid sequences that cause said dysferlin dysfunction. Particularly, the splicing of exon 32 is prevented. The present invention also relates to a method for treating a dysferlinopathy in a patient in need thereof, comprising the step of administering to said patient antisense oligonucleotides complementary to nucleic acid sequences that are necessary for correct splicing of one or more exons which encode amino acid sequences that cause said dysfunction. Particularly, the splicing of exon 32 is prevented.
摘要:
The invention relates to the use of a hydroxymethylglutaryl-coenzyme A (HMG-CoA) reductase inhibitor and of a farnesyl-pyrophosphate synthase inhibitor, or of one of their associated physiologically acceptable salts, in the preparation of a composition, particularly a pharmaceutical composition, for use in the treatment of human or animal, pathological or nonpathological situations related to the accumulation and/or the persistence of prenylated proteins in cells, such as during progeria (Hutchinson-Gilford syndrome), restrictive dermopathy or physiological aging.
摘要:
The present invention relates to a method for analyzing in vitro D4Z4 tandem repeat arrays of nucleic acid contained on nucleic acid representative of chromosomes, in particular on nucleic acid representative of Human chromosomes 4 and 10, and to a kit therefore. Said method is in particular suitable for determining the number of D4Z4 repeat units in said D4Z4 repeat arrays. Said method is based on stretching of nucleic acid and in particular on Molecular Combing and relies on the use of probes, especially nucleic acid probes, with a particular design. The invention also relates to a method for providing tools for the diagnosis of facioscapulohumeral muscular dystrophy (FSHD) and to a diagnostic kit therefore. The invention further relates to a method for identifying biochemical events and/or genetic in regions containing such tandem repeat arrays.
摘要:
Road-going assembly consisting of a vehicle comprising a front axle and a rear axle, and of a set of tires which are mounted on their mounting rim in order to be fitted to the front axle and the rear axle of this vehicle, the tires of the rear axle having grooves the mean depths of which are at least equal to 3 mm and at most equal to 5 mm, the tires of the front axle having grooves the mean depths of which are greater than 5 mm, this road-going assembly having, at least in the case of the rear axle, static setups (camber, toe-in) of close to zero, that is to say a camber of each wheel-tire assembly on the said axle of between −0.8 degrees and +0.8 degrees and a toe-in at each wheel of between −0.15 degrees and +0.15 degrees, the static setups of the tires of one and the same axle being equal in terms of absolute value and symmetric with respect to a plane perpendicular to the road surface.
摘要:
The subject matter of the invention is a cosmetic and/or dermatological composition for use in the treatment of skin and/or hair disorders. More particularly, the invention relates to a cosmetic and/or dermatological composition comprising an inhibitor of hydroxymethylglutaryl-coenzyme A (HMG-CoA) reductase, an inhibitor of farnesyl pyrophosphate synthase, or an inhibitor of one of the physiologically acceptable salts thereof and a cosmetic and/or dermatological product. The present invention finds, for example, a very advantageous use in the treatment of the effects of early ageing, in particular in terms of the skin and the hair system.
摘要:
Road-going assembly consisting of a vehicle comprising a front axle and a rear axle, and of a set of tires which are mounted on their mounting rim in order to be fitted to the front axle and the rear axle of this vehicle, the tires of the rear axle having grooves the mean depths of which are at least equal to 3 mm and at most equal to 5 mm, the tires of the front axle having grooves the mean depths of which are greater than 5 mm, this road-going assembly having, at least in the case of the rear axle, static setups (camber, toe-in) of close to zero, that is to say a camber of each wheel-tire assembly on the said axle of between −0.8 degrees and +0.8 degrees and a toe-in at each wheel of between −0.15 degrees and +0.15 degrees, the static setups of the tires of one and the same axle being equal in terms of absolute value and symmetric with respect to a plane perpendicular to the road surface.
摘要:
This invention relates to a composition comprising an anti-HIV treatment and a treatment for side effects of said anti-HIV treatment in an HIV-infected patient. This invention is, for example, very useful in the treatment of side effects caused by certain anti-HIV treatments, for example premature aging and lipodystrophy, which can be caused by protease inhibitors or reverse transcriptase inhibitors. The composition of this invention includes at least one hydroxymethylglutaryl-coenzyme A (HMG-CoA) reductase inhibitor, at least one farnesyl-pyrophosphate synthase inhibitor, and at least one anti-HIV agent. One of the processes for treating an HIV-infected patient includes, in any order, the following steps: (i) administration of a mixture including at least one hydroxymethylglutaryl-coenzyme A (HMG-CoA) reductase inhibitor and at least one farnesyl-pyrophosphate synthase inhibitor and (ii) administration of an anti-HIV agent, in which the administrations are concomitant, successive or alternative.
摘要:
The invention relates to the use of a hydroxymethylglutaryl-coenzyme A (HMG-CoA) reductase inhibitor and of a farnesyl-pyrophosphate synthase inhibitor, or of one of their associated physiologically acceptable salts, in the preparation of a composition, particularly a pharmaceutical composition, for use in the treatment of human or animal, pathological or nonpathological situations related to the accumulation and/or the persistence of prenylated proteins in cells, such as during progeria (Hutchinson-Gilford syndrome), restrictive dermopathy or physiological aging.