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CONTENTS
Foreword
1.The Human OXPHOS System: Structure,Function and Physiology; Immo E.Scheffler.- Complexes of the Electron Transport Chain.- The ATP Synthase.- Regulation of Oxidative Phosphorylation.- Assembly of Electron Transport Complexes.- 2.Molecular Biology of the OXPHOS System; Richard C.S carpulla.- mtDNA.- Mihondrial Inheritance.- Replication,Transcription,RNA Processing.- Recombination and Repair.- Mihondrial Translation System.- Bi-Genomic Expression of the Respiratory Chain.- 3.Clinical Diagnosis of Oxidative Phosphorylation Disorders; Robert McFarland, Patrick F.Chinnery, Robert W.Taylor, Andrew M.Schaefer and Douglass M.Turnbull.- Epidemiology of Defects of Mihondrial Oxidation.- Clinical Features of Patients with Defects of Mihondrial Oxidation.- Investigation of Suspected Mihondrial Disease.- 4.Contribution of Histopathological Examination to the Diagnosis of OXPHOS Disorders; Martin Lammens and Henk ter Laak.- Muscle Biopsy Diagnosis.- Morphological Hallmarks for Diagnosis of OXPHOS Disorders.- Mihondrial Changes in Muscle Biopsies without OXPHOS Disorder.- Muscle Biopsy in OXPHOS Disorders.- Pathological Findings in Other Organs.- 5.Biochemical Diagnosis of OXPHOS Disorders; J.M.Frans Trijbels, Antoon J.M Janssen, Lambert P.van den Heuvel, Rob C.A.Sengers and Jan A.M.Smeitink.- Examination of Body Fluids.- Examination of Tissues.- Biochemical Diagnostic Investigations.- Frozen Muscle Samples.- Complex IV (Cyhrome c Oxidase).- Complex V.- Practical Guidelines for Biochemical Examinations of Muscle.- Investigation of Fibroblasts.- Residual Enzyme Activity.- 6.Mihondrial DNA and OXPHOS Disorders; Massimo Zeviani and Valerio Carelli.- General Background.- Mihondrial Genetics.- Sequence and Gene Organization of mtDNA.- Mihondrial Disorders Due to Mutations of mtDNA.- Mutations of mtDNA.- Large-Scale Rearrangements.- Point Mutations.- Heteroplasmic Point Mutations.- Other Syndromes.- Homoplasmic mtDNA Mutations.- Other Homoplasmic Mutations.- Genetic Counseling.- 7.Nuclear DNA and Oxidative Phosphorylation; Lambert P.van den Heuvel and Jan A.M.Smeitink.- Biochemistry and Molecular Biology of the OXPHOS System.- Nuclear DNA Mutations.- 8.Cell Biological Consequences of OXPHOS Disorders; Werner J.H.Koopman, Henk-Jan Visch, Sjoerd Verkaart and Peter H.G.M.Willems.- Mihondrial Function in the Living Cell.- Cellular Calcium Signalling.- Cellular Consequences of OXPHOS Deficiency.- 9.Animal Models of OXPHOS Disorders; Nicole Hance and Nils-Göran Larsson.- A Drosophila Model of Mihondrial Deafness.- Mouse Models of Nuclear DNA Mutations.- Manipulation of Mihondrial Transcription Factor A Expression in Mice.- Transmihondrial Mouse Models.- Defective Nuclear-Mihondrial DNA Interactions Resulting in Hearing Loss.- 10.Therapeutic Options in OXPHOS Disorders; Rob C.A.Sengers, J.M.Frans Trijbels, Carolien C.A.Boelen, Eva Morava and Jan A.M.Smeitink.- Therapeutic Approaches.- Practical Approaches.- Future Therapies.- Evaluation of Treatment.- 11.Prenatal Diagnostics in Oxidative Phosphorylation Disorders; Antoon J.M.Janssen, Letitia E.M.Niers, Lambert P.van den Heuvel, Jan A.M.Smeitink, Rob C.A.Sengers and J.M.Frans Trijbels.- Prerequisites for Offering Prenatal Diagnosis in OXPHOS Disorders.- Tissues to Be Used for Prenatal Diagnosis in OXPHOS Disorders.- Methods for Prenatal Diagnosis in OXPHOS Disorders.- Results of Prenatal Diagnosis for OXPHOS Disorders in Our Center.- General Considerations.- 12.Future Developments in the Laboratory Diagnosis of OXPHOS Disorders; David R.Thorburn.- In Vivo Assessment of OXPHOS Function.- Minimally Invasive Tissue Samples.- OXPHOS Function.- OXPHOS Constituents.- OXPHOS Genetics.- Prenatal Diagnosis &Prevention.-Index.
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Add Oxidative Phosphorylation in Health and Disease, Mihondrial diseases are often hard to diagnose. From the time they were first researched without animal models, patients of mihondrial diseases were of equal interest to both clinical and basic scientists. With the new research done, this book includes up, Oxidative Phosphorylation in Health and Disease to the inventory that you are selling on WonderClubX
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Add Oxidative Phosphorylation in Health and Disease, Mihondrial diseases are often hard to diagnose. From the time they were first researched without animal models, patients of mihondrial diseases were of equal interest to both clinical and basic scientists. With the new research done, this book includes up, Oxidative Phosphorylation in Health and Disease to your collection on WonderClub |