Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 25

1.

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.

PMID:
24878229
[PubMed - in process]
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.

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

PMID:
24598713
[PubMed - indexed for MEDLINE]
3.

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.

PMID:
24359958
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
24155976
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

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.

PMID:
24004519
[PubMed]
Free PMC Article
6.

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.

PMID:
23993788
[PubMed - indexed for MEDLINE]
7.

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 - indexed for MEDLINE]
Free PMC Article
8.

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.

PMID:
23551834
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

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
10.

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]
Free PMC Article
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.

PMID:
22131434
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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
13.

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
14.

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.

PMID:
21627813
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

PMID:
21247474
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

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.

PMID:
20031636
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

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.

PMID:
20009544
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

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

Ferguson CJ, Lenk GM, Meisler MH.

Hum Mol Genet. 2009 Dec 15;18(24):4868-78. doi: 10.1093/hmg/ddp460. Epub 2009 Sep 29.

PMID:
19793721
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS.

Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, Meisler MH.

Am J Hum Genet. 2009 Jan;84(1):85-8. doi: 10.1016/j.ajhg.2008.12.010.

PMID:
19118816
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Basic research studies to understand aneurysm disease.

Boddy AM, Lenk GM, Lillvis JH, Nischan J, Kyo Y, Kuivaniemi H.

Drug News Perspect. 2008 Apr;21(3):142-8. Review.

PMID:
18560612
[PubMed - indexed for MEDLINE]

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Write to the Help Desk