Ian D. Millar

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We describe a distinct retinal disorder, autosomal-recessive bestrophinopathy (ARB), that is consequent upon biallelic mutation in BEST1 and is associated with central visual loss, a characteristic retinopathy, an absent electro-oculogram light rise, and a reduced electroretinogram. Heterozygous mutations in BEST1 have previously been found to cause the two(More)
The epithelial cells of the choroid plexuses secrete cerebrospinal fluid (CSF), by a process which involves the transport of Na(+), Cl(-) and HCO(3)(-) from the blood to the ventricles of the brain. The unidirectional transport of ions is achieved due to the polarity of the epithelium, i.e. the ion transport proteins in the blood-facing (basolateral)(More)
Bestrophin-1 is preferentially expressed at the basolateral membrane of the retinal pigmented epithelium (RPE) of the retina. Mutations in the BEST1 gene cause the retinal dystrophies vitelliform macular dystrophy, autosomal-dominant vitreochoroidopathy, and autosomal-recessive bestrophinopathy. Here, we describe four missense mutations in bestrophin-1,(More)
Knowledge of the diversity of ion channel form and function has increased enormously over the last 25 years. The initial impetus in channel discovery came with the introduction of the patch clamp method in 1981. Functional data from patch clamp experiments have subsequently been augmented by molecular studies which have determined channel structures. Thus(More)
PURPOSE Autosomal recessive bestrophinopathy (ARB) is a retinal dystrophy affecting macular and retinal pigmented epithelium function resulting from homozygous or compound heterozygous mutations in BEST1. In this study we characterize the functional implications of missense bestrophin-1 mutations that cause ARB by investigating their effect on(More)
The transport of L-glutamate by lactating rat mammary gland has been examined using both tissue explants and a perfused mammary preparation. L-Glutamate uptake by mammary tissue explants was predominantly via a Na(+)-dependent pathway: Li+, choline+ and NMDG+ could not substitute for Na+. L-Glutamate efflux from preloaded explants was also influenced by the(More)
The transport stoichiometry of the electrogenic sodium-bicarbonate cotransporter (SLC4A5 or NBCe2) in mouse choroid plexus was examined. Whole-cell recording methods measured the currents carried by the NBCe2, using experimental solutions determined to minimise the contributions of the other ion conductances present. Increases in outward current were(More)
Amino acid movement across cell membranes is mediated by a variety of transport systems. These pathways have been extensively studied and characterized in a large array of cell types and include both Na+-dependent and Naf-independent carriers. In addition, recent work suggests that channels may also play a role in amino acid transport. The objective of the(More)
The substrate specificity of the rat mammary tissue high affinity, Na+-dependent anionic amino acid transport system has been investigated using explants and the perfused mammary gland. D-Aspartate appears to be transported via the high affinity, Na+-dependent L-glutamate carrier. Thus, D-aspartate transport by rat mammary tissue was Na+-dependent and(More)
The effect of cell-volume pertubations on mammary tissue protein synthesis has been examined. Cell-swelling, induced by a hyposmotic shock, increased the rate of incorporation of radiolabelled leucine and methionine into trichloroacetic acid precipitable material. The incorporation of radiolabel under both isosmotic and hyposmotic conditions was inhibited(More)