{"schema_version":"1.0","canonical_url":"https://patentable.app/patents/US-8535884","patent":{"patent_number":"US-8535884","title":"LMNA gene and its involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and arteriosclerosis","assignee":null,"inventors":[],"filing_date":"2011-09-09T00:00:00.000Z","publication_date":"2013-09-17T00:00:00.000Z","cpc_codes":["C12Q","C12Q","C12Q","C12Q","G01N"],"num_claims":4,"abstract":"Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of a mutant Lamin A protein product that is 50 amino acids shorter than the normal protein. In addition to the novel Lamin A variant protein and nucleic acids encoding this variant, methods of using these molecules in detecting biological conditions associated with a LMNA mutation in a subject (e.g., HGPS, arteriosclerosis, and other age-related diseases), are also described. Oligonucleotides and other compounds for use in examples of the described methods are also provided, as are protein-specific binding agents, such as antibodies, that bind specifically to at least one epitope of a Lamin A variant protein preferentially compared to wildtype Lamin A, and methods of using such antibodies in diagnosis, treatment, and screening."},"analysis":{"summary":null,"layman_explanation":null,"technical_analysis":null,"business_analysis":null,"faqs":null,"topics":[],"tech_cluster":null},"seo":{"title":"LMNA gene and its involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and arteriosclerosis","description":"Disclosed herein are point mutations in the LMNA gene that cause HGPS. These mutations activate a cryptic splice site within the LMNA gene, which leads to deletion of part of exon 11 and generation of","keywords":[]},"attribution":{"source":"Patentable","source_url":"https://patentable.app","canonical_url":"https://patentable.app/patents/US-8535884","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-8535884","citation_suggestion":"Patentable. \"LMNA gene and its involvement in Hutchinson-Gilford Progeria Syndrome (HGPS) and arteriosclerosis\" (US-8535884). https://patentable.app/patents/US-8535884","copyright_holder":"Nomic Interactive Technology LLC"},"links":{"html":"https://patentable.app/patents/US-8535884","json":"https://patentable.app/api/llm-context/US-8535884","site":"https://patentable.app","llms_txt":"https://patentable.app/llms.txt"},"generated_at":"2026-05-30T17:14:57.873Z"}