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Article

Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy.

Scientific reports - 14 Mar 2018

Marmorstein Alan D, Johnson Adiv A, Bachman Lori A, Andrews-Pfannkoch Cynthia, Knudsen Travis, Gilles Benjamin J, Hill Matthew, Gandhi Jarel K, Marmorstein Lihua Y, Pulido Jose S

Abstract excerpt

Autosomal recessive bestrophinopathy (ARB) is caused by mutations in the gene BEST1 which encodes bestrophin 1 (Best1), an anion channel expressed in retinal pigment epithelial (RPE) cells. It has been hypothesized that ARB represents the human null phenotype for BEST1 and that this occurs due to nonsense mediated decay (NMD). To test this hypothesis, we generated induced pluripotent stem cells (iPSCs) from a...

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Source

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Identifiers

PMID: 29540715
DOI: 10.1038/s41598-018-21651-z
PMCID: PMC5852082

Genes

RPE
BEST1
RPE65

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutant Best1 Expression and Impaired Phagocytosis in an iPSC Model of Autosomal Recessive Bestrophinopathy.PMID 29540715Read ↗

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iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degenerationSemantic proximity Read ↗

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