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Patent
A novel gene in neurodegenerative disease
The present application relates to the field of neurodegenerative diseases, particularly Parkinson's disease (PD), most particularly early-onset PD. Using whole genome sequencing in familial early-onset PD,a novel recessive gene could be identified: ATP10Bencoding a lysosomal phosphatidylcholine (PC) lipid flippase. Determining expression of this gene, or the presence of mutations in this gene, may be used in diagnosis of neurodegenerative disease. Furthermore, restoring or increasing expression levels or function of ATP10B is envisaged as therapy.
Patent Publication Number: WO2016166373
Year filing: 2016
Year approval: 2017
Year publication: 2016
Status: Requested
URI: link to Espacenet
Technology domains: Analysis of biological materials, Biotechnology
Validated for IOF-key: Yes
Attributed to: Associatie KULeuven, Associatie Universiteit & Hogescholen Antwerpen