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First published June 25, 2026 Application Aachen patent A – Human necessities

PABPN1 ISOFORMS FOR USE IN THERAPY

Espacenet Family 94768394

Abstract

Short expansion mutations in PABPN1 cause adult-onset, autosomal dominant oculopharyngeal muscular dystrophy (OPMD). The molecular hallmark of OPMD is the presence of insoluble nuclear aggregates of the expanded (exp)PABPN1. The aggregation of PABPN1 results in reduced levels of functional PABPN1. In OPMD, PABPN1 levels are under a critical threshold which leads to muscle weakness. Interestingly, reduced levels of PABPN1 are also found in ageing muscles, where these reduced levels lead to muscle atrophy and has also been found to be associated with other adult-onset pathologies affecting tissues other than skeletal muscles, such as cancers, including bladder cancer, and heart diseases.

Inventors 2

  1. Vered Raz Aachen author as filed: Raz, Vered
  2. Silvère M. van der Maarel Aachen author as filed: van der Maarel, Silvère Maria

Inventors are linked to an Aachen author when surname and first name match exactly one author.

Applicants

  • ACADEMISCH ZIEKENHUIS LEIDEN (H.O.D.N. LUMC) GBS Leiden

Cited papers 4 in the database

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Cited patents 33

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