Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2

By Berger Philipp   Berger Imre   Schaffitzel Christiane   Tersar Kristian   Volkmer Benjamin   Suter Ueli  

Human Molecular Genetics, Vol. 15, Iss. 4, 2006-02 ,pp. : 569-579

Oxford University Press

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Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot–Marie–Tooth disease type 4B1

By Berger P.  

Human Molecular Genetics, Vol. 11, Iss. 13, 2002-06 ,pp. : 1569-1579

Oxford University Press

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A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

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Human Molecular Genetics, Vol. 8, Iss. 2, 1999-02 ,pp. : 345-352

Oxford University Press

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RNA-binding protein is involved in aggregation of light neurofilament protein and is implicated in the pathogenesis of motor neuron degeneration

By Lin Hong   Zhai Jinbin   Schlaepfer William W.  

Human Molecular Genetics, Vol. 14, Iss. 23, 2005-12 ,pp. : 3643-3659

Oxford University Press

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The Nek8 protein kinase, mutated in the human cystic kidney disease nephronophthisis, is both activated and degraded during ciliogenesis

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Human Molecular Genetics, Vol. 21, Iss. 5, 2012-03 ,pp. : 1155-1171

Oxford University Press

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