title: Phosphoinositide signaling disorders in human diseases.
abstract: Phosphoinositides (PIs) play an essential role in diverse cellular functions. Their intracellular level is strictly regulated by specific PI kinases, phosphatases and phospholipases. Recent discoveries indicate that dysfunctions in the control of their level often lead to pathologies. This review will focus on some human diseases whose etiologies involve PI-metabolizing enzymes. The role of PTEN (phosphatase and tensin homolog deleted on chromosome ten) in cancer, the impact of the Src homology 2-containing inositol-5-phosphatase phosphatases in acute myeloid leukemia or diabetes, the involvement of myotubularin family members in genetic diseases and the implication of OCRL1 in Lowe syndrome will be emphasized. We will also review how some bacterial pathogens have evolved strategies to specifically manipulate the host cell PI metabolism to efficiently infect them.
authors.affiliation: Inserm U563, Centre de Physiopathologie de Toulouse Purpan, Département d'oncogenèse et signalisation dans les cellules hématopoïétiques, Hôpital Purpan, 31059 Toulouse Cedex, France.
authors.forename: Caroline
authors.initials: C
authors.lastname: Pendaries
authors.forename: Hélène
authors.initials: H
authors.lastname: Tronchère
authors.forename: Monique
authors.initials: M
authors.lastname: Plantavid
authors.forename: Bernard
authors.initials: B
authors.lastname: Payrastre
mesh_terms: D019870:1-Phosphatidylinositol 4-Kinase / Q000378:metabolism; D000818:Animals; D001419:Bacteria / Q000378:metabolism / Q000472:pathogenicity; D003924:Diabetes Mellitus, Type 2 / Q000378:metabolism*; D030342:Genetic Diseases, Inborn / Q000378:metabolism*; D006801:Humans; D008954:Models, Biological; D009369:Neoplasms / Q000378:metabolism*; D051059:PTEN Phosphohydrolase; D019869:Phosphatidylinositol 3-Kinases / Q000378:metabolism; D010716:Phosphatidylinositols / Q000378:metabolism*; D010740:Phospholipases / Q000378:metabolism; D010744:Phosphoric Monoester Hydrolases / Q000235:genetics / Q000378:metabolism; D015398:Signal Transduction; D025521:Tumor Suppressor Proteins / Q000378:metabolism
chemical_list: D010716:Phosphatidylinositols; D025521:Tumor Suppressor Proteins; D019869:Phosphatidylinositol 3-Kinases; D019870:1-Phosphatidylinositol 4-Kinase; D010740:Phospholipases; D010744:Phosphoric Monoester Hydrolases; D051059:PTEN Phosphohydrolase; C494929:PTEN protein, human