Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment.
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ABSTRACT:
SUBMITTER: Schietroma C
PROVIDER: S-EPMC5461027 | biostudies-literature | 2017 Jun
REPOSITORIES: biostudies-literature
Publications
Usher syndrome type 1-associated cadherins shape the photoreceptor outer segment.
Schietroma Cataldo C Parain Karine K Estivalet Amrit A Aghaie Asadollah A Boutet de Monvel Jacques J Picaud Serge S Sahel José-Alain JA Perron Muriel M El-Amraoui Aziz A Petit Christine C
The Journal of cell biology 20170511 6
Usher syndrome type 1 (USH1) causes combined hearing and sight defects, but how mutations in USH1 genes lead to retinal dystrophy in patients remains elusive. The USH1 protein complex is associated with calyceal processes, which are microvilli of unknown function surrounding the base of the photoreceptor outer segment. We show that in <i>Xenopus tropicalis</i>, these processes are connected to the outer-segment membrane by links composed of protocadherin-15 (USH1F protein). Protocadherin-15 defi ...[more]
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2021-06-01 | GSE172437 | GEO