35 results about "Cerebellar ataxia" patented technology

Provided is a method for constructing an ataxia animal model, which comprises knocking out a target sequence on a genome of the cerebellar Purkinje cells of a target animal; the target sequence is the Tmem30a gene. Also provided are an animal model of the cerebellar ataxia constructed by the described method and a method for screening a medicament used for preventing or treating an ataxia disease using the animal model.

The invention discloses a Caspase-3 inhibitor, namely a dihydropyrrolones derivative, with a molecular structural formula (1), and pharmaceutically acceptable salts thereof. In the molecular structural formula, R1 represents alkyl, aryl or heterocyclic radical; R2 represents hydrogen, alkyl, aryl or heterocyclic radical; R3 represents alkoxyl, aryloxy, primary amino radical or secondary amino radical; and R4 represents primary amino radical, secondary amino radical, alkoxyl, aryloxy, alkylthio radical, arylthio radical or N-containing heterocyclic radical. The dihydropyrrolones derivative or the pharmaceutically acceptable salts thereof, as a Caspase-3 inhibitor, can be applied to treating diseases caused by excessive apoptosis of cells, such as acquired immunity deficiency syndrome, serious hepatitis, osteoarthritis, senile dementia, Parkinson's disease, amyotrophic lateral sclerosis, Huntingdon's chorea, spinal and cerebellar ataxia, muscular dystrophy, cerebral ischemia, cerebral injury and the like, singly or by combining with other medicines.

The invention relates to the fields of biomedicine and chemistry, and provides butylphthalide derivatives and their application in the preparation of drugs for protecting nerve cells. More specifically, the invention provides butylphthalide derivatives or a drug combination composed of them The purposes of the drug in the preparation of drugs for the prevention and / or treatment of cell damage-related diseases and neurodegenerative diseases; the nerve cell damage diseases include but not limited to stroke, spinal cord injury and nervous system with blood-brain barrier damage disease; the neurodegenerative disease includes, but is not limited to, Parkinson's disease, Alzheimer's disease, Huntington's disease, amyotrophic lateral sclerosis, spinal muscular atrophy, primary lateral sclerosis, or spinal cord Cerebellar ataxia.

The current invention relates to gene therapy approaches for the treatment of SCA3, in particular RNAi based gene therapy approaches utilizing a total knockdown approach. The inventors provide for selected target regions and / or target sequences for which highly efficient knockdown of the ATXN3 gene expression can be advantegeously obtained in human neuronal cells and in mouse models relevant for SCA3.

The invention relates to an improved primer for detecting the dynamic mutation of a CAG repetitive sequence of a spinocerebellar ataxia ATXN3 gene and a method thereof, characterized in that a specially designed specific primer is adopted to amplify the amount of a DNA fragment containing the CAG repetitive sequence in the ATXN3 gene to the observable degree through a special PCR procedure, and gel electrophoresis is utilized to observe the size of a PCR amplification product fragment and estimate the number of replication of the CAG dynamic mutation in the ATXN3 gene. The invention has the advantages that: 1. simplicity and economy, and no sequence detection, i.e. the method can be operated in common molecular biology laboratories or control laboratories, thereby establishing a simple detection method of the amplification CAG repetitive sequence; 2. high sensitivity and reliability: 25ng genome DNA is enough to detect the number of replication of the CAG dynamic mutation in the ATXN3gene, thereby a reliable basis is provided for clinically diagnosing spinocerebellar ataxia.