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Results: 1 to 20 of 41

Select item 236233871.

Yunis-Varón Syndrome Is Caused by Mutations in FIG4, Encoding a Phosphoinositide Phosphatase.

Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH.

Am J Hum Genet. 2013 May 2;92(5):781-91. doi: 10.1016/j.ajhg.2013.03.020. Epub 2013 Apr 25.

PMID:: 23623387; [PubMed - in process]

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Select item 234896622.

Rapidly progressive asymmetrical weakness in Charcot-Marie-Tooth disease type 4J resembles chronic inflammatory demyelinating polyneuropathy.

Cottenie E, Menezes MP, Rossor AM, Morrow JM, Yousry TA, Dick DJ, Anderson JR, Jaunmuktane Z, Brandner S, Blake JC, Houlden H, Reilly MM.

Neuromuscul Disord. 2013 May;23(5):399-403. doi: 10.1016/j.nmd.2013.01.010. Epub 2013 Mar 13.

PMID:: 23489662; [PubMed - in process]

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Select item 233890343.

Vac14 protein multimerization is a prerequisite step for Fab1 protein complex assembly and function.

Alghamdi TA, Ho CY, Mrakovic A, Taylor D, Mao D, Botelho RJ.

J Biol Chem. 2013 Mar 29;288(13):9363-72. doi: 10.1074/jbc.M113.453712. Epub 2013 Feb 6.

PMID:: 23389034; [PubMed - in process]

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Select item 233363654.

The FIG4 gene does not play a major role in causing ALS in Italian patients.

Verdiani S, Origone P, Geroldi A, Bandettini Di Poggio M, Mantero V, Bellone E, Mancardi G, Caponnetto C, Mandich P.

Amyotroph Lateral Scler Frontotemporal Degener. 2013 Apr;14(3):228-9. doi: 10.3109/21678421.2012.760605. Epub 2013 Jan 22. No abstract available.

PMID:: 23336365; [PubMed - in process]

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Select item 231652825.

Fig4 deficiency: a newly emerged lysosomal storage disorder?

Martyn C, Li J.

Prog Neurobiol. 2013 Feb-Mar;101-102:35-45. doi: 10.1016/j.pneurobio.2012.11.001. Epub 2012 Nov 16.

PMID:: 23165282; [PubMed - in process]

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Select item 230864226.

Inositol polyphosphate phosphatases in human disease.

Hakim S, Bertucci MC, Conduit SE, Vuong DL, Mitchell CA.

Curr Top Microbiol Immunol. 2012;362:247-314. doi: 10.1007/978-94-007-5025-8_12. Review.

PMID:: 23086422; [PubMed - indexed for MEDLINE]

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Select item 230476937.

In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P.

Zolov SN, Bridges D, Zhang Y, Lee WW, Riehle E, Verma R, Lenk GM, Converso-Baran K, Weide T, Albin RL, Saltiel AR, Meisler MH, Russell MW, Weisman LS.

Proc Natl Acad Sci U S A. 2012 Oct 23;109(43):17472-7. doi: 10.1073/pnas.1203106109. Epub 2012 Oct 9.

PMID:: 23047693; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 229984438.

Selectivity, cocrystal structures, and neuroprotective properties of leucettines, a family of protein kinase inhibitors derived from the marine sponge alkaloid leucettamine B.

Tahtouh T, Elkins JM, Filippakopoulos P, Soundararajan M, Burgy G, Durieu E, Cochet C, Schmid RS, Lo DC, Delhommel F, Oberholzer AE, Pearl LH, Carreaux F, Bazureau JP, Knapp S, Meijer L.

J Med Chem. 2012 Nov 8;55(21):9312-30. doi: 10.1021/jm301034u. Epub 2012 Oct 8.

PMID:: 22998443; [PubMed - indexed for MEDLINE]

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Select item 228427859.

Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)P₂ and PI(5)P.

Zhang Y, McCartney AJ, Zolov SN, Ferguson CJ, Meisler MH, Sutton MA, Weisman LS.

EMBO J. 2012 Aug 15;31(16):3442-56. doi: 10.1038/emboj.2012.200. Epub 2012 Jul 27.

PMID:: 22842785; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2258177910.

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.

Hum Mol Genet. 2012 Aug 15;21(16):3525-34. doi: 10.1093/hmg/dds179. Epub 2012 May 11.

PMID:: 22581779; [PubMed - indexed for MEDLINE]

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Select item 2240307811.

Phosphoinositide phosphatases: just as important as the kinases.

Dyson JM, Fedele CG, Davies EM, Becanovic J, Mitchell CA.

Subcell Biochem. 2012;58:215-79. doi: 10.1007/978-94-007-3012-0_7.

PMID:: 22403078; [PubMed - in process]

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Select item 2215761712.

Fig4 expression in the rodent nervous system and its potential role in preventing abnormal lysosomal accumulation.

Guo J, Ma YH, Yan Q, Wang L, Zeng YS, Wu JL, Li J.

J Neuropathol Exp Neurol. 2012 Jan;71(1):28-39. doi: 10.1097/NEN.0b013e31823deda8. Erratum in: J Neuropathol Exp Neurol. 2012 Jun;71(6):601.

PMID:: 22157617; [PubMed - indexed for MEDLINE]

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Select item 2213143413.

Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4.

Winters JJ, Ferguson CJ, Lenk GM, Giger-Mateeva VI, Shrager P, Meisler MH, Giger RJ.

J Neurosci. 2011 Nov 30;31(48):17736-51. doi: 10.1523/JNEUROSCI.1482-11.2011.

PMID:: 22131434; [PubMed - indexed for MEDLINE]

Free Article

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Select item 2202866514.

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.

PLoS Genet. 2011 Oct;7(10):e1002319. doi: 10.1371/journal.pgen.1002319. Epub 2011 Oct 20.

PMID:: 22028665; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2187227515.

Trauma does not accelerate neuronal degeneration in Fig4 insufficient mice.

Yan Q, Guo J, Zhang X, Bai Y, Wang L, Li J.

J Neurol Sci. 2012 Jan 15;312(1-2):102-7. doi: 10.1016/j.jns.2011.08.009. Epub 2011 Aug 27.

PMID:: 21872275; [PubMed - indexed for MEDLINE]

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Select item 2173668616.

Phosphatidylinositol-3,5-bisphosphate: no longer the poor PIP2.

Ho CY, Alghamdi TA, Botelho RJ.

Traffic. 2012 Jan;13(1):1-8. doi: 10.1111/j.1600-0854.2011.01246.x. Epub 2011 Jul 27. Review.

PMID:: 21736686; [PubMed - indexed for MEDLINE]

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Select item 2170542017.

Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4.

Nicholson G, Lenk GM, Reddel SW, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S, Blouin R, Brandt C, Coppola G, Biesecker LG, Batish SD, Meisler MH.

Brain. 2011 Jul;134(Pt 7):1959-71. doi: 10.1093/brain/awr148.

PMID:: 21705420; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2165508818.

Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.

Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH.

PLoS Genet. 2011 Jun;7(6):e1002104. doi: 10.1371/journal.pgen.1002104. Epub 2011 Jun 2.

PMID:: 21655088; [PubMed - indexed for MEDLINE]

Free PMC Article

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Select item 2141079419.

Distinct pathogenic processes between Fig4-deficient motor and sensory neurons.

Katona I, Zhang X, Bai Y, Shy ME, Guo J, Yan Q, Hatfield J, Kupsky WJ, Li J.

Eur J Neurosci. 2011 Apr;33(8):1401-10. doi: 10.1111/j.1460-9568.2011.07651.x. Epub 2011 Mar 17.

PMID:: 21410794; [PubMed - indexed for MEDLINE]

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Select item 2063087720.

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.

J Biol Chem. 2010 Aug 27;285(35):26760-4. doi: 10.1074/jbc.C110.154658. Epub 2010 Jul 14.

PMID:: 20630877; [PubMed - indexed for MEDLINE]

Free PMC Article

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22 free full-text articles in PubMed Central

In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P. [Proc Natl Acad Sci U S A. 2012]
In vivo, Pikfyve generates PI(3,5)P2, which serves as both a signaling lipid and the major precursor for PI5P.
Zolov SN, Bridges D, Zhang Y, Lee WW, Riehle E, Verma R, Lenk GM, Converso-Baran K, Weide T, Albin RL, et al. Proc Natl Acad Sci U S A. 2012 Oct 23; 109(43):17472-7. Epub 2012 Oct 9.
Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)P₂ and PI(5)P. [EMBO J. 2012]
Modulation of synaptic function by VAC14, a protein that regulates the phosphoinositides PI(3,5)P₂ and PI(5)P.
Zhang Y, McCartney AJ, Zolov SN, Ferguson CJ, Meisler MH, Sutton MA, Weisman LS. EMBO J. 2012 Aug 15; 31(16):3442-56. Epub 2012 Jul 27.
Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. [PLoS Genet. 2011]
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, et al. PLoS Genet. 2011 Oct; 7(10):e1002319. Epub 2011 Oct 20.

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