title: Myotubularin phosphoinositide phosphatases: cellular functions and disease pathophysiology.
abstract: The myotubularin family of phosphoinositide phosphatases includes several members mutated in neuromuscular diseases or associated with metabolic syndrome, obesity, and cancer. Catalytically dead phosphatases regulate their active homologs by heterodimerization and potentially represent key players in the phosphatase-kinase balance. Although the enzymatic specificity for phosphoinositides indicates a role for myotubularins in endocytosis and membrane trafficking, recent findings in cellular and animal models suggest that myotubularins regulate additional processes including cell proliferation and differentiation, autophagy, cytokinesis, and cytoskeletal and cell junction dynamics. In this review, we discuss how myotubularins regulate such diverse processes, emphasizing newly identified functions in a physiological and pathological context. A better understanding of myotubularin pathophysiology will pave the way towards therapeutic strategies.
authors.affiliation: Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Illkirch, France.
authors.forename: Karim
authors.initials: K
authors.lastname: Hnia
authors.forename: Ilaria
authors.initials: I
authors.lastname: Vaccari
authors.forename: Alessandra
authors.initials: A
authors.lastname: Bolino
authors.forename: Jocelyn
authors.initials: J
authors.lastname: Laporte
mesh_terms: D000818:Animals; D001343:Autophagy / Q000502:physiology; D002462:Cell Membrane / Q000378:metabolism; D003599:Cytoskeleton / Q000378:metabolism; D004705:Endocytosis / Q000502:physiology; D006801:Humans; D007473:Ion Channels / Q000378:metabolism; D009468:Neuromuscular Diseases / Q000235:genetics / Q000378:metabolism*; D010587:Phagocytosis / Q000502:physiology; D010716:Phosphatidylinositols / Q000378:metabolism*; D055503:Protein Multimerization; D021381:Protein Transport; D054558:Protein Tyrosine Phosphatases, Non-Receptor / Q000235:genetics / Q000378:metabolism*; D015398:Signal Transduction
chemical_list: D007473:Ion Channels; D010716:Phosphatidylinositols; D054558:Protein Tyrosine Phosphatases, Non-Receptor; C099588:myotubularin