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Page 1
Endosomal phosphoinositides and human diseases.
Nicot AS, Laporte J. Nicot AS, et al. Traffic. 2008 Aug;9(8):1240-9. doi: 10.1111/j.1600-0854.2008.00754.x. Epub 2008 Apr 21. Traffic. 2008. PMID: 18429927 Free PMC article. Review.
The PtdIns3P and PtdIns(3,5)P(2) 3-phosphatase myotubularin gene is mutated in X-linked centronuclear myopathy, whereas its homologs MTMR2 and MTMR13 and the PtdIns(3,5)P(2) 5-phosphatase SAC3/FIG4 are implicated in Charcot-Marie-Tooth peripheral neuropathies. Mutations in …
The PtdIns3P and PtdIns(3,5)P(2) 3-phosphatase myotubularin gene is mutated in X-linked centronuclear myopathy, whereas its homologs MTMR2 a …
Phosphatidylinositol-3,5-bisphosphate: metabolism and physiological functions.
Takasuga S, Sasaki T. Takasuga S, et al. J Biochem. 2013 Sep;154(3):211-8. doi: 10.1093/jb/mvt064. Epub 2013 Jul 15. J Biochem. 2013. PMID: 23857703 Review.
In this article, we review the current state of knowledge of the metabolic/physiological functions of PtdIns(3,5)P2, and describe how disruption of these functions may contribute to human diseases....
In this article, we review the current state of knowledge of the metabolic/physiological functions of PtdIns(3,5)P2, and describe how disrup …
Cerebral hypomyelination associated with biallelic variants of FIG4.
Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S; Broad Center for Mendelian Genomics; White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH. Lenk GM, et al. Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28. Hum Mutat. 2019. PMID: 30740813 Free PMC article.
The lipid phosphatase gene FIG4 is responsible for Yunis-Varon syndrome and Charcot-Marie-Tooth disease Type 4J, a peripheral neuropathy. We now describe four families with FIG4 variants and prominent abnormalities of central nervous system (CNS) white matter …
The lipid phosphatase gene FIG4 is responsible for Yunis-Varon syndrome and Charcot-Marie-Tooth disease Type 4J, a peripheral neuropa …
Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.
Lenk GM, Meisler MH. Lenk GM, et al. Methods Enzymol. 2014;534:245-60. doi: 10.1016/B978-0-12-397926-1.00014-7. Methods Enzymol. 2014. PMID: 24359958 Free PMC article.
The endolysosomal system and autophagy are essential components of macromolecular turnover in eukaryotic cells. ...Analysis of mouse models with defects in PI(3,5)P2 biosynthesis has revealed the unique dependence of the mammalian nervous system on this signa …
The endolysosomal system and autophagy are essential components of macromolecular turnover in eukaryotic cells. ...Analysis of mouse …
Protective role of the lipid phosphatase Fig4 in the adult nervous system.
Mironova YA, Lin JP, Kalinski AL, Huffman LD, Lenk GM, Havton LA, Meisler MH, Giger RJ. Mironova YA, et al. Hum Mol Genet. 2018 Jul 15;27(14):2443-2453. doi: 10.1093/hmg/ddy145. Hum Mol Genet. 2018. PMID: 29688489 Free PMC article.
Cellular levels of PI(3,5)P2 are regulated by an enzyme complex comprised of the kinase PIKFYVE, the phosphatase FIG4, and the scaffold protein VAC14. Mutations of human FIG4 cause inherited disorders including Charcot-Marie-Tooth disease type 4J, polymicrogyria with epile …
Cellular levels of PI(3,5)P2 are regulated by an enzyme complex comprised of the kinase PIKFYVE, the phosphatase FIG4, and the scaffo …
Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies.
Vaccari I, Dina G, Tronchère H, Kaufman E, Chicanne G, Cerri F, Wrabetz L, Payrastre B, Quattrini A, Weisman LS, Meisler MH, Bolino A. Vaccari I, et al. PLoS Genet. 2011 Oct;7(10):e1002319. doi: 10.1371/journal.pgen.1002319. Epub 2011 Oct 20. PLoS Genet. 2011. PMID: 22028665 Free PMC article.
Mutations in FIG4 are associated with CMT4J neuropathy characterized by both axonal and myelin damage in peripheral nerve. Loss of Fig4 function in the plt (pale tremor) mouse produces spongiform degeneration of the brain and peripheral neuropathy. ...Reduction of F …
Mutations in FIG4 are associated with CMT4J neuropathy characterized by both axonal and myelin damage in peripheral nerve. Loss of Fi …
Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration.
Ferguson CJ, Lenk GM, Jones JM, Grant AE, Winters JJ, Dowling JJ, Giger RJ, Meisler MH. Ferguson CJ, et al. Hum Mol Genet. 2012 Aug 15;21(16):3525-34. doi: 10.1093/hmg/dds179. Epub 2012 May 11. Hum Mol Genet. 2012. PMID: 22581779 Free PMC article.
FIG4 is a ubiquitously expressed phosphatase that, in complex with FAB1/PIKFYVE and VAC14, regulates the biosynthesis of the signaling lipid PI(3,5)P(2). Null mutation of Fig4 in the mouse results in spongiform degeneration of brain and peripheral ganglia, defective …
FIG4 is a ubiquitously expressed phosphatase that, in complex with FAB1/PIKFYVE and VAC14, regulates the biosynthesis of the signalin …
Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.
Shisheva A, Sbrissa D, Hu B, Li J. Shisheva A, et al. Mol Neurobiol. 2019 Dec;56(12):8656-8667. doi: 10.1007/s12035-019-01693-8. Epub 2019 Jul 16. Mol Neurobiol. 2019. PMID: 31313076
Charcot-Marie-Tooth disease type-4J (CMT4J), an autosomal recessively inherited peripheral neuropathy characterized by neuronal degeneration, segmental demyelination, and limb muscle weakness, is caused by compound heterozygous mutations in the SAC3/FIG4 gene, resulting in …
Charcot-Marie-Tooth disease type-4J (CMT4J), an autosomal recessively inherited peripheral neuropathy characterized by neuronal degen …
ArPIKfyve regulates Sac3 protein abundance and turnover: disruption of the mechanism by Sac3I41T mutation causing Charcot-Marie-Tooth 4J disorder.
Ikonomov OC, Sbrissa D, Fligger J, Delvecchio K, Shisheva A. Ikonomov OC, et al. J Biol Chem. 2010 Aug 27;285(35):26760-26764. doi: 10.1074/jbc.C110.154658. Epub 2010 Jul 14. J Biol Chem. 2010. PMID: 20630877 Free PMC article.
The mammalian phosphatidylinositol (3,5)-bisphosphate (PtdIns(3,5)P(2)) phosphatase Sac3 and ArPIKfyve, the associated regulator of the PtdIns3P-5 kinase PIKfyve, form a stable binary complex that associates with PIKfyve in a ternary complex to increase PtdIns(3,5)P …
The mammalian phosphatidylinositol (3,5)-bisphosphate (PtdIns(3,5)P(2)) phosphatase Sac3 and ArPIKfyve, the associated regulator of the PtdI …