Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies

Best vitelliform macular dystrophy (BD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and the autosomal recessive bestrophinopathy (ARB), together known as the bestrophinopathies, are caused by mutations in the bestrophin-1 (<i>BEST1</i>) gene affecting anion transport through...

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Bibliographic Details
Main Authors: Anna-Lena Nachtigal, Andrea Milenkovic, Caroline Brandl, Heidi L. Schulz, Lisa M. J. Duerr, Gabriele E. Lang, Charlotte Reiff, Philipp Herrmann, Ulrich Kellner, Bernhard H.F. Weber
Format: Article
Language:English
Published: MDPI AG 2020-02-01
Series:International Journal of Molecular Sciences
Subjects:
bestrophin-1
best1
induced pluripotent stem cell
retinal pigment epithelium
er-associated degradation
endo-lysosomal degradation pathway
pathomechanism
best vitelliform macular dystrophy
best disease
autosomal recessive bestrophinopathy
autosomal dominant vitreoretinochoroidopathy
Online Access:https://www.mdpi.com/1422-0067/21/5/1597

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https://www.mdpi.com/1422-0067/21/5/1597

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