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Phosphoinositide signaling disorders in human diseases
Authors:Pendaries Caroline  Tronchère Hélène  Plantavid Monique  Payrastre Bernard
Affiliation:Inserm U563, Centre de Physiopathologie de Toulouse Purpan, Département d'oncogenèse et signalisation dans les cellules hématopo?étiques, H?pital Purpan, 31059 Toulouse Cedex, France.
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.
Keywords:Phosphoinositides   Cancer   Myotubular myopathy   Charcot-Marie-Tooth neuropathy   Lowe syndrome   Bacterial infection
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