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Results: 1 to 20 of 110

Similar articles for PubMed (Select 17572665)

1.

Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J.

Chow CY, Zhang Y, Dowling JJ, Jin N, Adamska M, Shiga K, Szigeti K, Shy ME, Li J, Zhang X, Lupski JR, Weisman LS, Meisler MH.

Nature. 2007 Jul 5;448(7149):68-72. Epub 2007 Jun 17.

2.

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.

3.

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.

Zhang X, Chow CY, Sahenk Z, Shy ME, Meisler MH, Li J.

Brain. 2008 Aug;131(Pt 8):1990-2001. doi: 10.1093/brain/awn114. Epub 2008 Jun 12.

4.

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.

5.

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
6.

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
7.
8.

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.

9.

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.

10.

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.

11.

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.

12.

Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.

Vaccari I, Carbone A, Previtali SC, Mironova YA, Alberizzi V, Noseda R, Rivellini C, Bianchi F, Del Carro U, D'Antonio M, Lenk GM, Wrabetz L, Giger RJ, Meisler MH, Bolino A.

Hum Mol Genet. 2015 Jan 15;24(2):383-96. doi: 10.1093/hmg/ddu451. Epub 2014 Sep 3.

13.

Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.

De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.

Am J Hum Genet. 2002 Mar;70(3):726-36. Epub 2002 Jan 17. Erratum in: Am J Hum Genet 2002 Apr;70(4):1075.

14.

PtdIns(3,5)P2 is required for delivery of endocytic cargo into the multivesicular body.

Shaw JD, Hama H, Sohrabi F, DeWald DB, Wendland B.

Traffic. 2003 Jul;4(7):479-90.

PMID:
12795693
15.

An assessment of mechanisms underlying peripheral axonal degeneration caused by aminoacyl-tRNA synthetase mutations.

Stum M, McLaughlin HM, Kleinbrink EL, Miers KE, Ackerman SL, Seburn KL, Antonellis A, Burgess RW.

Mol Cell Neurosci. 2011 Feb;46(2):432-43. doi: 10.1016/j.mcn.2010.11.006. Epub 2010 Nov 27.

16.

[Molecular genetics of inherited neuropathies].

Takashima H.

Rinsho Shinkeigaku. 2006 Jan;46(1):1-18. Review. Japanese.

PMID:
16541790
17.

Regulation of Fab1 phosphatidylinositol 3-phosphate 5-kinase pathway by Vac7 protein and Fig4, a polyphosphoinositide phosphatase family member.

Gary JD, Sato TK, Stefan CJ, Bonangelino CJ, Weisman LS, Emr SD.

Mol Biol Cell. 2002 Apr;13(4):1238-51.

18.

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.

19.

Genetic epidemiology of Charcot-Marie-Tooth disease.

Braathen GJ.

Acta Neurol Scand Suppl. 2012;(193):iv-22. doi: 10.1111/ane.12013.

PMID:
23106488
20.

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. Review.

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