Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium

Autor: Jingshu Liu, Forbes D C Manson, Travis Knudsen, Rachel L. Taylor, Richard A. Baines, Barbara Corneo, Graeme C.M. Black, Lisa Swanton, Sally Freeman, Alan D. Marmorstein, Achchhe Patel

Publikováno v: Liu, J, Taylor, R L, Baines, R, Swanton, E, Freeman, S, Corneo, B, Patel, A, Marmorstein, A, Knudson, T, Black, G & Manson, F 2020, ' Small Molecules Restore Bestrophin 1 Expression and Function of Both Dominant and Recessive Bestrophinopathies in Patient-Derived Retinal Pigment Epithelium. ', Investigative ophthalmology & visual science, vol. 61, no. 5, 28 . https://doi.org/10.1167/iovs.61.5.28
Investigative Ophthalmology & Visual Science

Purpose: Bestrophinopathies are a group of untreatable inherited retinal dystrophies caused by mutations in the retinal pigment epithelium (RPE) Cl− channel bestrophin 1. We tested whether sodium phenylbutyrate (4PBA) could rescue the function of m

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26b950c5aa451854fa595a51cdc09147
https://www.research.manchester.ac.uk/portal/en/publications/small-molecules-restore-bestrophin-1-expression-and-function-of-both-dominant-and-recessive-bestrophinopathies-in-patientderived-retinal-pigment-epithelium(5a73418e-ddcd-42c0-977d-aa37baa91aff).html

Surface expression and distribution of voltage-gated potassium channels in neurons (Review)

Autor: Lynn McKeown, Philip Robinson, Lisa Swanton, Owen T. Jones

Publikováno v: Molecular Membrane Biology. 25:332-343

The last decade has witnessed an exponential increase in interest in one of the great mysteries of nerve cell biology: Specifically, how do neurons know where to place the ion channels that control their excitability? Many of the most important insig

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5eaa85a06941948875e05b6486470e0
https://doi.org/10.1080/09687680801992470

An alternative pathway for membrane protein biogenesis at the endoplasmic reticulum.

Autor: O'Keefe, Sarah¹ sarah.okeefe@manchester.ac.uk, Zong, Guanghui², Duah, Kwabena B.³, Andrews, Lauren E.³, Shi, Wei Q.³, High, Stephen¹ stephen.high@manchester.ac.uk

Publikováno v: Communications Biology. 7/1/2021, Vol. 4 Issue 1, p1-15. 15p.

Kinetic characterisation of Erv1, a key component for protein import and folding in yeast mitochondria.

Autor: Tang, Xiaofan^1,2 (AUTHOR), Ang, Swee Kim¹ (AUTHOR), Ceh‐Pavia, Efrain¹ (AUTHOR), Heyes, Derren J.³ (AUTHOR), Lu, Hui¹ (AUTHOR) hui.lu@manchester.ac.uk

Publikováno v: FEBS Journal. Mar2020, Vol. 287 Issue 6, p1220-1231. 12p.

Mitochondrial antiviral-signalling protein is a client of the BAG6 protein quality control complex.

Autor: Roboti, Peristera, Lawless, Craig, High, Stephen

Publikováno v: Journal of Cell Science; May2022, Vol. 135 Issue 9, p1-15, 15p