Myotubularin phosphoinositide phosphatases: Cellular functions and disease pathophysiology

Karim Hnia, Ilaria Vaccari, Alessandra Bolino, Jocelyn Laporte

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)317-327
Number of pages11
JournalTrends in Molecular Medicine
Volume18
Issue number6
DOIs
Publication statusPublished - Jun 2012

Keywords

  • Cytoskeleton
  • Endocytosis
  • Intermediate filament
  • Myopathy
  • Neuropathy
  • Phosphatase
  • Phosphoinositides
  • Signaling

ASJC Scopus subject areas

  • Molecular Biology
  • Molecular Medicine

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