Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of <i>CHM</i> Gene Transcription

Molecular Characterization of Choroideremia-Associated Deletions Reveals an Unexpected Regulation of <i>CHM</i> Gene Transcription

Choroideremia (CHM) is a X-linked recessive chorioretinal dystrophy due to deficiency of the <i>CHM</i> gene product, i.e., Rab escort protein isoform 1 (REP1). To date, gene therapy for CHM has shown variable effectiveness, likely because the underlying pathogenic mechanisms as well as...

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Bibliographic Details
Main Authors: Tiziana Fioretti, Valentina Di Iorio, Barbara Lombardo, Francesca De Falco, Armando Cevenini, Fabio Cattaneo, Francesco Testa, Lucio Pastore, Francesca Simonelli, Gabriella Esposito
Format: Article
Language:English
Published: MDPI AG 2021-07-01
Series:Genes
Subjects:
<i>CHM</i>
choroideremia
deletion breakpoint
inherited retinal degeneration
REP1
REP2
Online Access:https://www.mdpi.com/2073-4425/12/8/1111

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