R01 GM24872/GM/NIGMS NIH HHS/United States[Grants and Funding] - Search Results

Year	Number of Results
1988	1
2004	1
2005	1
2007	2
2008	3
2009	1
2011	4
2012	3
2013	1
2014	3
2015	1
2019	1
2025	0

1

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.

2

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. Baulac S, et al. Neurology. 2014 Mar 25;82(12):1068-75. doi: 10.1212/WNL.0000000000000241. Epub 2014 Mar 5. Neurology. 2014. PMID: 24598713 Free PMC article.

3

Evidence for a direct role of the disease modifier SCNM1 in splicing.

Howell VM, Jones JM, Bergren SK, Li L, Billi AC, Avenarius MR, Meisler MH. Howell VM, et al. Hum Mol Genet. 2007 Oct 15;16(20):2506-16. doi: 10.1093/hmg/ddm206. Epub 2007 Jul 26. Hum Mol Genet. 2007. PMID: 17656373

4

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. Menezes MP, et al. Neuromuscul Disord. 2014 Aug;24(8):666-70. doi: 10.1016/j.nmd.2014.04.010. Epub 2014 May 4. Neuromuscul Disord. 2014. PMID: 24878229 Free PMC article.

5

A targeted deleterious allele of the splicing factor SCNM1 in the mouse.

Howell VM, de Haan G, Bergren S, Jones JM, Culiat CT, Michaud EJ, Frankel WN, Meisler MH. Howell VM, et al. Genetics. 2008 Nov;180(3):1419-27. doi: 10.1534/genetics.108.094227. Epub 2008 Sep 14. Genetics. 2008. PMID: 18791226 Free PMC article.

6

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

Zhang X, Chow CY, Sahenk Z, Shy ME, Meisler MH, Li J. Zhang X, et al. Brain. 2008 Aug;131(Pt 8):1990-2001. doi: 10.1093/brain/awn114. Epub 2008 Jun 12. Brain. 2008. PMID: 18556664 Free PMC article.

7

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. Zolov SN, et al. Proc Natl Acad Sci U S A. 2012 Oct 23;109(43):17472-7. doi: 10.1073/pnas.1203106109. Epub 2012 Oct 9. Proc Natl Acad Sci U S A. 2012. PMID: 23047693 Free PMC article.

8

Loss of Vac14, a regulator of the signaling lipid phosphatidylinositol 3,5-bisphosphate, results in neurodegeneration in mice.

Zhang Y, Zolov SN, Chow CY, Slutsky SG, Richardson SC, Piper RC, Yang B, Nau JJ, Westrick RJ, Morrison SJ, Meisler MH, Weisman LS. Zhang Y, et al. Proc Natl Acad Sci U S A. 2007 Oct 30;104(44):17518-23. doi: 10.1073/pnas.0702275104. Epub 2007 Oct 23. Proc Natl Acad Sci U S A. 2007. PMID: 17956977 Free PMC article.

9

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. Lenk GM, et al. PLoS Genet. 2011 Jun;7(6):e1002104. doi: 10.1371/journal.pgen.1002104. Epub 2011 Jun 2. PLoS Genet. 2011. PMID: 21655088 Free PMC article.

10

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2.

Ferguson CJ, Lenk GM, Meisler MH. Ferguson CJ, et al. Hum Mol Genet. 2009 Dec 15;18(24):4868-78. doi: 10.1093/hmg/ddp460. Epub 2009 Sep 29. Hum Mol Genet. 2009. PMID: 19793721 Free PMC article.

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