BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes

ER stress causes widespread protein aggregation and prion formation

(2017) Norfadilah Hamdan et al.   JOURNAL OF CELL BIOLOGY

SDM: a server for predicting effects of mutations on protein stability

(2017) Arun Prasad Pandurangan et al.   NUCLEIC ACIDS RESEARCH

Restoration of mutant bestrophin-1 expression, localisation and function in a polarised epithelial cell model

(2016) Carolina Uggenti et al.   Disease Models & Mechanisms

Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells

(2015) Andrea Milenkovic et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Disease-causing mutations associated with four bestrophinopathies exhibit disparate effects on the localization, but not the oligomerization, of Bestrophin-1

(2014) Adiv A. Johnson et al.   EXPERIMENTAL EYE RESEARCH

Quality control at the plasma membrane: One mechanism does not fit all

(2014) Markus Babst   JOURNAL OF CELL BIOLOGY

Structure and insights into the function of a Ca2+-activated Cl− channel

(2014) Veronica Kane Dickson et al.   NATURE

DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach

(2014) D. E. V. Pires et al.   NUCLEIC ACIDS RESEARCH

Structure and selectivity in bestrophin ion channels

(2014) T. Yang et al.   SCIENCE

mCSM: predicting the effects of mutations in proteins using graph-based signatures

(2013) Douglas E. V. Pires et al.   BIOINFORMATICS

Disease-Causing Mutations in BEST1 Gene Are Associated with Altered Sorting of Bestrophin-1 Protein

(2013) Jordan Doumanov et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Frequency, Genotype, and Clinical Spectrum of Best Vitelliform Macular Dystrophy: Data From a National Center in Denmark

(2012) Hanna Bitner et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Cysteine cathepsins: From structure, function and regulation to new frontiers

(2011) Vito Turk et al.   BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Protein quality control at the plasma membrane

(2011) Tsukasa Okiyoneda et al.   CURRENT OPINION IN CELL BIOLOGY

Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance

(2011) Vladimir M. Milenkovic et al.   JOURNAL OF CELL SCIENCE

Evasion of Endoplasmic Reticulum Surveillance Makes Wsc1p an Obligate Substrate of Golgi Quality Control

(2010) Songyu Wang et al.   MOLECULAR BIOLOGY OF THE CELL

NOVEL AND HOMOZYGOUS BEST1 MUTATIONS IN CHINESE PATIENTS WITH BEST VITELLIFORM MACULAR DYSTROPHY

(2010) RAYMOND L. M. WONG et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Conformational Maturation and Post-ER Multisubunit Assembly of Gap Junction Proteins

(2009) Judy K. VanSlyke et al.   MOLECULAR BIOLOGY OF THE CELL

Functional roles of bestrophins in ocular epithelia

(2009) Alan D. Marmorstein et al.   PROGRESS IN RETINAL AND EYE RESEARCH

The spectrum of ocular phenotypes caused by mutations in the BEST1 gene

(2009) Camiel J.F. Boon et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Selective Processing and Metabolism of Disease-Causing Mutant Prion Proteins

(2009) Aarthi Ashok et al.   PLoS Pathogens

Biallelic Mutation of BEST1 Causes a Distinct Retinopathy in Humans

(2008) Rosemary Burgess et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Regulation of Bestrophin Cl Channels by Calcium: Role of the C Terminus

(2008) Qinghuan Xiao et al.   JOURNAL OF GENERAL PHYSIOLOGY

Molecular Physiology of Bestrophins: Multifunctional Membrane Proteins Linked to Best Disease and Other Retinopathies

(2008) H. Criss Hartzell et al.   PHYSIOLOGICAL REVIEWS