Abstract：
:The level and turnover of phosphoinositides (PIs) are tightly controlled by a large set of PI-specific enzymes (PI kinases and phosphatases). Mammalian PI phosphatases are conserved through evolution and among this large family the dual-specificity phosphatase (PTP/DSP) are metal-independent enzymes displaying the amino acid signature Cys-X5-Arg-Thr/Ser (CX5RT/S) in their active site. Such catalytic site characterizes the myotubularin 3-phosphatases that dephosphorylate PtdIns3P and PtdIns(3,5)P₂ and produce PtdIns5P. Substrates of myotubularins have been implicated in endocytosis and membrane trafficking while PtdIns5P may have a role in signal transduction. As a paradox, 6 of the 14 members of the myotubularin family lack enzymatic activity and are considered as dead phosphatases. Several myotubularins have been genetically linked to human diseases: MTM1 is mutated in the congenital myopathy X-linked centronuclear or myotubular myopathy (XLCNM) and MTMR14 (JUMPY) has been linked to an autosomal form of such disease, while MTMR2 and MTMR13 are mutated in Charcot-Marie-Tooth (CMT) neuropathies. Furthermore, recent evidences from genetic association studies revealed that several other myotubularins could be associated to chronic disorders such as cancer and obesity, highlighting their importance for human health. Here, we discuss cellular and physiological roles of myotubularins and their implication in human diseases, and we present potential pathological mechanisms affecting specific tissues in myotubularin-associated diseases.
journal_name
Curr Top Microbiol Immunoljournal_title
Current topics in microbiology and immunologyauthors
Amoasii L,Hnia K,Laporte Jdoi
10.1007/978-94-007-5025-8_10subject
Has Abstractpub_date
2012-01-01 00:00:00pages
209-33eissn
0070-217Xissn
2196-9965journal_volume
362pub_type
杂志文章,评审abstract：:The low-resource environment deprives healthcare providers caring for patients with Ebola virus disease (EVD) of many of the means employed for the critically ill that are available in better resourced settings, such as advanced therapeutic interventions and abundant staff. In addition to these limitations may be adde...
journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
doi：10.1007/82_2017_18
更新日期：2017-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
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journal_title：Current topics in microbiology and immunology
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-75241-9_8
更新日期：2017-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
doi：10.1007/978-3-642-59421-2_13
更新日期：2002-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
doi：10.1007/82_2010_30
更新日期：2010-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章
doi：10.1007/82_2011_173
更新日期：2012-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
doi：10.1007/82_2009_7
更新日期：2010-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
doi：10.1007/3-540-26764-6_2
更新日期：2005-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章
doi：10.1007/978-3-642-85226-8_13
更新日期：1996-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
doi：10.1007/978-3-319-22834-1_11
更新日期：2015-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
doi：10.1007/82_2018_80
更新日期：2018-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
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更新日期：2012-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
doi：10.1007/978-3-642-56508-3_2
更新日期：2001-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
doi：10.1007/978-3-540-75418-3_2
更新日期：2008-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
doi：10.1007/978-3-540-77349-8_14
更新日期：2008-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
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更新日期：2009-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
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更新日期：2005-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
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更新日期：2005-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
doi：10.1007/978-3-540-72146-8_3
更新日期：2008-01-01 00:00:00
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journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章,评审
doi：10.1007/3-540-26363-2_5
更新日期：2005-01-01 00:00:00
abstract：:The possible role of silicone in the pathogenesis of a scleroderma-like syndrome is still unresolved. It has been proposed that silicone escaping from breast implants potentiates the progression of the disease. To clarify whether silicone enhances development of fibrotic skin lesions and autoantibodies, we tested its ...
journal_title：Current topics in microbiology and immunology
pub_type： 杂志文章
doi：10.1007/978-3-642-85226-8_31
更新日期：1996-01-01 00:00:00
