New PDF release: Membrane Transporter Diseases

By Stefan Bröer, Carsten A. Wagner

ISBN-10: 1441990232

ISBN-13: 9781441990235

ISBN-10: 1461347610

ISBN-13: 9781461347613

Every phone and organism faces the matter of areas, made of the 2 leaflets of the lipid producing a restricted area within which metabolic bilayer. the significance of site visitors and signaling throughout membranes is mirrored through the estimate and anabolic reactions occur and whilst permitting access and go out of metabo­ that 20% of all genes within the human genome encode membrane proteins. A failure of any of lites, ions, proteins, and signs throughout its bor­ der. Evolution has solved the matter by way of those proteins can have dramatic con se­ producing lipid membranes that comprise trans­ quences for ceH functionality. lately a lot porters, ion channels, and receptors. In eukary­ cognizance has been paid to ailments ensuing otic cells, this challenge is exacerbated by means of the from nonfunctional ion channels ("chan­ presence of a number of organelles, that are con­ nelopathies"). now not unusually, a lot of those fined areas of their personal correct. Even the lipid ailments have an effect on the excitability of cells. membrane includes particularly separate Transporter illnesses (perhaps coined "carrier vi PREFACE diseases") are extra regarding metabolic dis­ every one bankruptcy is concluded by way of a precis, and eases, Transporters are often came across on the so much chapters additionally include an summary of the start or the tip of metabolic pathways medical positive factors of a specific transporter and accordingly could have comparable results to illness. a lacking enzyme.

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Extra resources for Membrane Transporter Diseases

Example text

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1997). Band 3 Campinas: A Novel Splicing Mutation in the Band 3 Gene (AEI) Associated with Hereditary Spherocytosis, Hyperactivity of Na +fLi + Countertransport and an Abnormal Renal Bicarbonate Handling. Blood, 90, 2810-2818. , et al. (2001). Two Genes That Map to the STSL Locus Cause Sitosterolemia: Genomic Structure and Spectrum of Mutations Involving Sterolin-I and Sterolin-2, Encoded by ABCG5 and ABCG8, Respectively. Am. 1. Hum. , 69, 278-290. , and Vestweber, D. (2001). The Gene Defective in Leukocyte Adhesion Deficiency II Encodes a Putative GDP-Fucose Transporter.

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Membrane Transporter Diseases by Stefan Bröer, Carsten A. Wagner

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