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filingDate 2020-01-28-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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publicationDate 2020-08-06-04:00^^<http://www.w3.org/2001/XMLSchema#date>
publicationNumber WO-2020159965-A1
titleOfInvention Method for detection and analysis of cerebrospinal fluid associated ube3a
abstract A method and kit for diagnosing Angelman Syndrome by detecting and analyzing ubiquitination of the UBE3A protein in cerebrospinal fluid is presented. CSF is collected from a patient and incubated with a substrate, such as S5a, and ubiquitin. Ubiquitination of the substrate by UBE3A is measured and compared to a control sample for biochemical diagnosis of Angelman Syndrome. A method of determining the efficacy of a treatment is also presented in which CSF is collected from the patient both prior to and after treatment and incubated with a substrate and ubiquitin. Ubiquitination of the substrate by UBE3A is measured and an increase in ubiquitination in the sample obtained after treatment as compared to the reference sample collected prior to treatment indicates efficacy of the treatment.
priorityDate 2019-01-30-04:00^^<http://www.w3.org/2001/XMLSchema#date>
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