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Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene.

Lenk GM, Frei CM, Miller AC, Wallen RC, Mironova YA, Giger RJ, Meisler MH.

Hum Mol Genet. 2015 Nov 24. pii: ddv480. [Epub ahead of print]



Menezes MP, Waddell L, Lenk GM, Kaur S, MacArthur DG, Meisler MH, Clarke NF.

Neuromuscul Disord. 2015 Apr;25(4):360. doi: 10.1016/j.nmd.2014.12.008. Epub 2014 Dec 29. No abstract available.


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.


Whole exome sequencing identifies three recessive FIG4 mutations in an apparently dominant pedigree with Charcot-Marie-Tooth disease.

Menezes MP, Waddell L, Lenk GM, Kaur S, MacArthur DG, Meisler MH, Clarke NF.

Neuromuscul Disord. 2014 Aug;24(8):666-70. doi: 10.1016/j.nmd.2014.04.010. Epub 2014 May 4.


Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noé E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E.

Neurology. 2014 Mar 25;82(12):1068-75. doi: 10.1212/WNL.0000000000000241. Epub 2014 Mar 5.


Mouse models of PI(3,5)P2 deficiency with impaired lysosome function.

Lenk GM, Meisler MH.

Methods Enzymol. 2014;534:245-60. doi: 10.1016/B978-0-12-397926-1.00014-7.


Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome.

Auerbach DS, Jones J, Clawson BC, Offord J, Lenk GM, Ogiwara I, Yamakawa K, Meisler MH, Parent JM, Isom LL.

PLoS One. 2013 Oct 14;8(10):e77843. doi: 10.1371/journal.pone.0077843. eCollection 2013.


Murine Fig4 is dispensable for muscle development but required for muscle function.

Reifler A, Lenk GM, Li X, Groom L, Brooks SV, Wilson D, Bowerson M, Dirksen RT, Meisler MH, Dowling JJ.

Skelet Muscle. 2013 Sep 1;3(1):21. doi: 10.1186/2044-5040-3-21.


A TRP channel in the lysosome regulates large particle phagocytosis via focal exocytosis.

Samie M, Wang X, Zhang X, Goschka A, Li X, Cheng X, Gregg E, Azar M, Zhuo Y, Garrity AG, Gao Q, Slaugenhaupt S, Pickel J, Zolov SN, Weisman LS, Lenk GM, Titus S, Bryant-Genevier M, Southall N, Juan M, Ferrer M, Xu H.

Dev Cell. 2013 Sep 16;26(5):511-24. doi: 10.1016/j.devcel.2013.08.003. Epub 2013 Aug 29.


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.


C9ORF72 expansion in a family with bipolar disorder.

Meisler MH, Grant AE, Jones JM, Lenk GM, He F, Todd PK, Kamali M, Albin RL, Lieberman AP, Langenecker SA, McInnis MG.

Bipolar Disord. 2013 May;15(3):326-32. doi: 10.1111/bdi.12063. Epub 2013 Apr 1.


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.


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.


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.


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.


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.


Regional expression of HOXA4 along the aorta and its potential role in human abdominal aortic aneurysms.

Lillvis JH, Erdman R, Schworer CM, Golden A, Derr K, Gatalica Z, Cox LA, Shen J, Vander Heide RS, Lenk GM, Hlavaty L, Li L, Elmore JR, Franklin DP, Gray JL, Garvin RP, Carey DJ, Lancaster WD, Tromp G, Kuivaniemi H.

BMC Physiol. 2011 May 31;11:9. doi: 10.1186/1472-6793-11-9.


Analysis of positional candidate genes in the AAA1 susceptibility locus for abdominal aortic aneurysms on chromosome 19.

Lillvis JH, Kyo Y, Tromp G, Lenk GM, Li M, Lu Q, Igo RP Jr, Sakalihasan N, Ferrell RE, Schworer CM, Gatalica Z, Land S, Kuivaniemi H.

BMC Med Genet. 2011 Jan 19;12:14. doi: 10.1186/1471-2350-12-14.


Binding sites for ETS family of transcription factors dominate the promoter regions of differentially expressed genes in abdominal aortic aneurysms.

Nischan J, Gatalica Z, Curtis M, Lenk GM, Tromp G, Kuivaniemi H.

Circ Cardiovasc Genet. 2009 Dec;2(6):565-72. doi: 10.1161/CIRCGENETICS.108.843854. Epub 2009 Oct 19.


PtdIns(3,5)P2 and autophagy in mouse models of neurodegeneration.

Ferguson CJ, Lenk GM, Meisler MH.

Autophagy. 2010 Jan;6(1):170-1. Epub 2010 Jan 13. Review. No abstract available.

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