Mutations in retinaldehyde binding protein 1 (RLBP1), encoding the visual cycle protein cellular retinaldehyde-binding protein (CRALBP), cause an autosomal recessive form of retinal degeneration. By binding to 11-cis-retinoid, CRALBP augments the isomerase activity of retinoid isomerohydrolase RPE65 (RPE65) and facilitates 11-cis-retinol oxidation to 11-cis-retinal. CRALBP also maintains the 11-cis configuration and protects against unwanted retinaldehyde activity. Studying a sibling pair that are...
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The protein tyrosine phosphatase SHP2 is an allosteric enzyme critical for cellular events downstream of growth factor receptors.Mutations in the SHP2gene have beenlinked to many different types of human diseases, including developmental disorders, leukemia and solid tumors.Unlike most SHP2-activating mutations, the T507K substitution in SHP2 is unique in that it exhibits oncogenic Ras-like transforming activity. However, the biochemical basis of how the SHP2/T507K variant elicits transformation...
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Fatty acid transport protein 2 (FATP2) is highly expressed in the liver, small intestine, and kidney where it functions in both the transport of exogenous long-chain fatty acids and the activation of very-long-chain fatty acids. Here, using a murine model, we investigated the phenotypic impacts of deleting FATP2, followed by a transcriptomic analysis using unbiased RNA-Seq to identify concomitant changes in the liver transcriptome. Wildtype and FATP2-null (Fatp2-/-) mice (5 weeks) were maintained...
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T-type (Cav3) Ca2+ channels are important regulators of excitability and rhythmic activity of excitable cells. Among other voltage-gated Ca2+ channels, Cav3 channels are uniquely sensitive to oxidation and zinc. Using recombinant protein expression in HEK293 cells, patch-clamp electrophysiology, site-directed mutagenesis, and homology modeling, we report here that modulation of Cav3.2 by redox agents and zinc is mediated by a unique extracellular module containing i) a high-affinity metal-binding...
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Manganese (Mn) is an essential micronutrient required for the normal development of many organs including the brain. Although its roles as a cofactor in several enzymes and in maintaining optimal physiology are well known, the overall biological functions of Mn are rather poorly understood. Alterations in body Mn status are associated with altered neuronal physiology and cognition in humans, and both over-exposure or (more rarely) insufficiency can cause neurological dysfunction. The resultant balancing...
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