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Article

A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration

1 Jan 2000

Abstract excerpt

The disks of vertebrate photoreceptors are produced by outgrowths of the plasma membrane. Hence genes that encode retinal proteins targeted to plasma membrane protrusions represent candidates for inherited retinal degenerations. One such candidate is the gene encoding human prominin (mouse)-like 1 (PROML1, previously known as AC133 antigen) which belongs to the prominin family of 5-transmembrane domain proteins....

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PMID: 10587575
DOI: 10.1093/hmg/9.1.27

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Related research

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A frameshift mutation in prominin (mouse)-like 1 causes human retinal degenerationPMID 10587575Read ↗

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in miceSemantic proximity Read ↗

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Deletion of the transmembrane protein Prom1b in zebrafish disrupts outer-segment morphogenesis and causes photoreceptor degenerationSemantic proximity Read ↗

Loss of Prom1 impairs autophagy and promotes epithelial‐mesenchymal transition in mouse retinal pigment epithelial cellsSemantic proximity Read ↗

Cross species analysis of Prominin reveals a conserved cellular role in invertebrate and vertebrate photoreceptor cells.Semantic proximity Read ↗

Deciphering the Impact of PROM1 Alternative Splicing on Human Photoreceptor Development and MaturationSemantic proximity Read ↗

Prominin-1 Knockdown Causes RPE Degeneration in a Mouse ModelSemantic proximity Read ↗

Characterization of Prominin-2, a New Member of the Prominin Family of Pentaspan Membrane GlycoproteinsSemantic proximity Read ↗

Exogenous photoreceptor-specific N-glycosylated PROM1 rescues retinal degeneration in patient and mouse models.Semantic proximity Read ↗

Distinct roles for prominin-1 and photoreceptor cadherin in outer segment disc morphogenesis in CRISPR-altered X. laevisSemantic proximity Read ↗

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