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[Mechanism of the unstable proteins generated by P346H-BEST1 and P233L-BEST1 mutations and their role in causing RP50 and BVMD].

Sheng li xue bao : [Acta physiologica Sinica] - 25 Apr 2026

Lu Qing-Xiang, Yang Jing-Ye, Tian Hong-Xia, Zhou Zhong-Xue, Zhou Ding-An

Abstract excerpt

BEST1 mutations are associated with a spectrum of ocular disorders collectively termed Bestrophinopathies, including autosomal dominant Best vitelliform macular dystrophy (BVMD), adult-onset vitelliform macular dystrophy (AVMD), autosomal dominant vitreoretinochoroidopathy (ADVIRC), retinitis pigmentosa type 50 (RP50), and autosomal recessive bestrophinopathy (ARB). The molecular mechanisms underlying their...

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Source

Identifiers

PMID: 42014342
DOI: 10.13294/j.aps.2026.0034

Genes

BEST1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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[Mechanism of the unstable proteins generated by P346H-BEST1 and P233L-BEST1 mutations and their role in causing RP50 and BVMD].PMID 42014342Read ↗

[Mutation-Dependent Mechanisms and Their Impact on Targeted Therapeutic Strategies with Reference to Bestrophin 1 and the Bestrophinopathies].Semantic proximity Read ↗

Bestrophinopathies: Clinical Characteristics, Natural History, and Genetic Landscape.Semantic proximity Read ↗

Bestrophin1: A Gene that Causes Many Diseases.Semantic proximity Read ↗

Mutation-Dependent Pathomechanisms Determine the Phenotype in the Bestrophinopathies.Semantic proximity Read ↗

Mutation spectrum of the bestrophin-1 gene in a large Chinese cohort with bestrophinopathySemantic proximity Read ↗

A novel compound heterozygous BEST1 gene mutation in two siblings causing autosomal recessive bestrophinopathySemantic proximity Read ↗

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene.Semantic proximity Read ↗

Detailed analysis of family with autosomal recessive bestrophinopathy associated with new BEST1 mutation.Semantic proximity Read ↗

BEST1 novel mutation causes Bestrophinopathies in six families with distinct phenotypic diversity.Semantic proximity Read ↗

Genetic and clinical features of BEST1-associated retinopathy based on 59 Chinese families and database comparisons.Semantic proximity Read ↗

Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients.Semantic proximity Read ↗

A homozygous frameshift mutation in BEST1 causes the classical form of Best disease in an autosomal recessive mode.Semantic proximity Read ↗

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