Ontology highlight
ABSTRACT:
SUBMITTER: Boffa I
PROVIDER: S-EPMC10086579 | biostudies-literature | 2023 Apr
REPOSITORIES: biostudies-literature
Boffa Iolanda I Polishchuk Elena E De Stefano Lucia L Dell'Aquila Fabio F Nusco Edoardo E Marrocco Elena E Audano Matteo M Pedretti Silvia S Caterino Marianna M Bellezza Ilaria I Ruoppolo Margherita M Mitro Nico N Cellini Barbara B Auricchio Alberto A Brunetti-Pierri Nicola N
EMBO molecular medicine 20230117 4
Gyrate atrophy of choroid and retina (GACR) is a chorioretinal degeneration caused by pathogenic variants in the gene encoding ornithine aminotransferase (OAT), an enzyme mainly expressed in liver. Affected patients have increased ornithine concentrations in blood and other body fluids and develop progressive constriction of vision fields leading to blindness. Current therapies are unsatisfactory and better treatments are highly needed. In two mouse models of OAT deficiency that recapitulates bi ...[more]