{"schema_version":"1.0","canonical_url":"https://patentable.app/patents/US-9597324","patent":{"patent_number":"US-9597324","title":"Treatment of CNS disorders associated with mutations in genes encoding lysosomal enzymes","assignee":null,"inventors":[],"filing_date":"2014-10-03T00:00:00.000Z","publication_date":"2017-03-21T00:00:00.000Z","cpc_codes":["C12Q","C12Q","G01N","C12Q","G01N"],"num_claims":10,"abstract":"Described is a method for treating an individual having a neurological disorder with an associated mutation or mutations in a gene encoding a lysosomal enzyme. Specifically, the individual is administered a specific pharmacological chaperone for the lysosomal enzyme which increases trafficking of the protein from the ER to the lysosome in neural cells, with or without concomitantly increasing enzyme activity in neural cells. Restoration of trafficking relieves cell stress and other toxicities associated with accumulation of mutant proteins. Restoration of enzyme activity relieves substrate accumulation and pathologies associated with lipid accumulation. In a specific embodiment, the neurological disorder is Parkinson's disease or parkinsonism which is associated with mutations in glucocerebrosidase."},"analysis":{"summary":null,"layman_explanation":null,"technical_analysis":null,"business_analysis":null,"faqs":null,"topics":[],"tech_cluster":null},"seo":{"title":"Treatment of CNS disorders associated with mutations in genes encoding lysosomal enzymes","description":"Described is a method for treating an individual having a neurological disorder with an associated mutation or mutations in a gene encoding a lysosomal enzyme. Specifically, the individual is administ","keywords":[]},"attribution":{"source":"Patentable","source_url":"https://patentable.app","canonical_url":"https://patentable.app/patents/US-9597324","license":"CC-BY-4.0-like","license_terms":"AI-generated analysis on this page (summary, layman_explanation, technical_analysis, business_analysis, faqs) may be reused with attribution and a visible link back to the canonical URL above. Patent abstracts, claims, and bibliographic data are USPTO public domain.","required_link":"https://patentable.app/patents/US-9597324","citation_suggestion":"Patentable. \"Treatment of CNS disorders associated with mutations in genes encoding lysosomal enzymes\" (US-9597324). https://patentable.app/patents/US-9597324","copyright_holder":"Nomic Interactive Technology LLC"},"links":{"html":"https://patentable.app/patents/US-9597324","json":"https://patentable.app/api/llm-context/US-9597324","site":"https://patentable.app","llms_txt":"https://patentable.app/llms.txt"},"generated_at":"2026-06-06T12:48:09.511Z"}