Ontology highlight
ABSTRACT:
SUBMITTER: Panagiotopoulos AL
PROVIDER: S-EPMC7452116 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Panagiotopoulos Anna-Lena AL Karguth Nina N Pavlou Marina M Böhm Sybille S Gasparoni Gilles G Walter Jörn J Graf Alexander A Blum Helmut H Biel Martin M Riedmayr Lisa Maria LM Becirovic Elvir E
Molecular therapy. Nucleic acids 20200731
Mutations in CLRN1 cause Usher syndrome (USH) type III (USH3A), a disease characterized by progressive hearing impairment, retinitis pigmentosa, and vestibular dysfunction. Due to the lack of appropriate disease models, no efficient therapy for retinitis pigmentosa in USH patients exists so far. In addition, given the yet undefined functional role and expression of the different CLRN1 splice isoforms in the retina, non-causative therapies such as gene supplementation are unsuitable at this stage ...[more]