defective membrane remodeling in neuromuscular diseases insights from animal models缺陷膜重塑神经肌肉疾病从动物模型.pdfVIP

Review Defective Membrane Remodeling in Neuromuscular Diseases: Insights from Animal Models Belinda S. Cowling1,2,3,4,5., Anne Toussaint1,2,3,4,5., Jean Muller2,3,4,5,6,7, Jocelyn Laporte1,2,3,4,5* ´ ´ ´ 1 Department of Translational Medicine and Neurogenetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire (IGBMC), Illkirch, France, 2 Inserm, U964, Illkirch, ´ ´ ´ ` France, 3 CNRS, UMR7104, Illkirch, France, 4 Universite de Strasbourg, Illkirch, France, 5 Chaire de Genetique Humaine, College de France, Illkirch, France, 6 Department of ´ ´ ´ ´ ´ Integrated Structural Biology, Institut de Genetique et de Biologie Moleculaire et Cellulaire, Illkirch, France, 7 Laboratoire de Diagnostic Genetique, CHU Strasbourg Nouvel ˆ Hopital Civil, Strasbourg, France are commonly mutated in several neuromuscular diseases affecting Abstract: Proteins involved in membrane remodeling different tissues, suggesting a common pathological pathway and play an essential role in a plethora of cell functions tissue-specific regulations. As other neuromuscular disease genes including endocytosis and intracellular transport. Defects encode for proteins implicated in membrane transport, this in several of them lead to human diseases. Myotubularins, proposed pathological pathway may link together a larger number amphiphysins, and dynamins are all proteins implicated in