Polycystic Kidney Disease

图书简介

This volume focuses on the investigatory methods applied to autosomal dominant polycystic kidney disease (ADPKD), one of the most common human genetic diseases. ADPKD is caused by mutations in PKD1 and TRPP2, two integral membrane proteins that function as receptor/ion channels in primary cilia of tubular epithelial cells. Thus, ADPKD belongs to ciliopathies, a group of disorders caused by abnormal cilia formation or function. This proposed book will cover the state-of-the-art methods ranging from molecular biology, biochemistry, electrophysiology, to tools in model animal studies.Key FeaturesExplores the role of cilia in polycystic kidney diseaseFocuses on myriad state-of-the-art methods and techniquesReviews specific mutations integral to this autosomal genetic diseaseIncludes discussions of model systems

1. Biochemical Analysis of the Polycystin-1 Complexity Generated by Proteolytic Cleavage at the G Protein-Coupled Receptor Proteolysis Site. 2. Structural Determination of the Polycystin-2 Channel by Electron Cryo-Microscopy. 3. Recording Ion Channels in Cilia Membranes. 4. Electrophysiological Recording of a Gain-of-Function Polycystin-2 Channel with a Two-Electrode Voltage Clamp. 5. Functional Studies of PKD2 and PKD2L1 through Opening the Hydrophobic Activation Gate. 6. Analyzing the GPCR Function of Polycystin-1. 7. Methods to Study the Vasculature in ADPKD. 8. Energy Metabolism, Metabolic Sensors, and Nutritional Interventions in Polycystic Kidney Disease. 9. "Kidney in a Dish" Organoids for PKD. 10. Rodent Autosomal Dominant Polycystic Kidney Disease Models. 11. Using C. elegans as a Model in PKD. 12. Approaches to Studying Polycystic Kidney Disease in Zebrafish. 13. Investigation of DNA Methylation in Autosomal Dominant Polycystic Kidney Disease. 14. Molecular Diagnosis of Autosomal Dominant Polycystic Kidney Disease.

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Polycystic Kidney Disease 多囊肾 人体生理学

Polycystic Kidney Disease

多囊肾
人体生理学