Juvenile Cataract-Associated Mutation of Solute Carrier SLC16A12 Impairs Trafficking of the Protein to the Plasma Membrane

PURPOSE. SLC16A12 encodes an orphan member of the monocarboxylate transporter family, MCT12. A nonsense mutation in SLC16A12 (c.643C>T; p.Q215X) causes juvenile cataract with a dominant inheritance pattern. In the present study, in vitro and in vivo experimental models were used to gain insight i...

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Detalhes bibliográficos
Principais autores: Castorino, John J., Gallagher-Colombo, Shannon M., Levin, Alex V., FitzGerald, Paul G., Polishook, Jessica, Kloeckener-Gruissem, Barbara, Ostertag, Eric, Philp, Nancy J.
Formato: Artigo
Idioma:Inglês
Publicado em: Association for Research in Vision and Ophthalmology, Inc. 2011
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3176021/
https://ncbi.nlm.nih.gov/pubmed/21778275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1167/iovs.10-6579
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