The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Myotubularins, a large disease-associated family of cooperating catalytically active and inactive phosphoinositides phosphatases
Abstract
The myotubularin family is a large eukaryotic group within the tyrosine/dual-specificity phosphatase super-family (PTP/DSP). Among the 14 human members, three are mutated in genetic diseases: myotubular myopathy and two forms of Charcot-Marie-Tooth neuropathy. We present an analysis of the myotubularin family in sequenced genomes. The myotubularin family encompasses catalytically active and inactive phosphatases, and both classes are well conserved from nematode to man. Catalytically active myotubularins dephosphorylate phosphatidylinositol 3-phosphate (PtdIns3P) and PtdIns3,5P2, leading to the production of PtdIns and PtdIns5P. This activity may be modulated by direct interaction with catalytically inactive myotubularins. These phosphoinositides are signaling molecules that are notably involved in vacuolar transport and membrane trafficking. Myotubularins are thus proposed to be implicated in these cellular mechanisms, and recent observations on myotubularins homologues in the nematode Caenorhabditis elegans indicate a role in endocytosis.
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The origin and evolution of model organisms
Hedges, S. B. (2002) · Nature Reviews Genetics · doi:10.1038/nrg929 · Cited by 806
Laporte, J., Hu, L. J., Kretz, C., Mandel, J.-L., Kioschis, P., Coy, J. F., Klauck, S. M., Poustka, A., & Dahl, N. (1996) · Nature Genetics · doi:10.1038/ng0696-175 · Cited by 639
Self-citationIsakoff, S. J., Cardozo, T., Andreev, J., Li, Z., Ferguson, K. M., Abagyan, R., Lemmon, M. A., Aronheim, A., & Skolnik, E. Y. (1998) · The EMBO Journal · doi:10.1093/emboj/17.18.5374 · Cited by 324
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Phosphoinositides: Tiny Lipids With Giant Impact on Cell Regulation
Balla, T. (2013) · Physiological Reviews · doi:10.1152/physrev.00028.2012 · Cited by 1,638
Mutations in dynamin 2 cause dominant centronuclear myopathy
Bitoun, M., Maugenre, S., Jeannet, P.-Y., Lacène, E., Ferrer, X., Laforêt, P., Martin, J.-J., Laporte, J., Lochmüller, H., Beggs, A. H., et al. (2005) · Nature Genetics · doi:10.1038/ng1657 · Cited by 481
Self-citationNicot, A.-S., Toussaint, A., Tosch, V., Kretz, C., Wallgren-Pettersson, C., Iwarsson, E., Kingston, H., Garnier, J.-M., Biancalana, V., Oldfors, A., et al. (2007) · Nature Genetics · doi:10.1038/ng2086 · Cited by 434
Self-citationPhosphatidylinositol 3-phosphates—at the interface between cell signalling and membrane traffic
Marat, A. L., & Haucke, V. (2016) · The EMBO Journal · doi:10.15252/embj.201593564 · Cited by 299
Control of autophagy initiation by phosphoinositide 3‐phosphatase jumpy
Vergne, I., Roberts, E., Elmaoued, R. A., Tosch, V., Delgado, M. A., Proikas‐Cezanne, T., Laporte, J., & Deretic, V. (2009) · The EMBO Journal · doi:10.1038/emboj.2009.159 · Cited by 270
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Metadata
- Authors
- Laporte, J., Bedez, F., Bolino, A., & Mandel, J.-L.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2003-08-12
- Volume
- 12
- Issue
- suppl 2
- Pages
- R285-R292
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2155985464
- Cited by
- 182
- References
- 3
- FWCI
- 4.18
- Type
- journal article
- Language
- en
- Open access
- closed
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