Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy and renal abnormalities. Together with Alström...

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Bibliographic Details
Main Authors: Jonathan Eintracht, Elizabeth Forsythe, Helen May-Simera, Mariya Moosajee
Format: Article
Language:English
Published: Elsevier 2021-08-01
Series:EBioMedicine
Subjects:
Nonsense suppression
Ciliopathies
Ataluren
Amlexanox
BBS2
ALMS1
Online Access:http://www.sciencedirect.com/science/article/pii/S235239642100308X

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