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Items: 36

1.

VAC14 Gene-Related Parkinsonism-Dystonia With Response to Deep Brain Stimulation.

de Gusmao CM, Stone S, Waugh JL, Yang E, Lenk GM, Rodan LH.

Mov Disord Clin Pract. 2019 Jun 21;6(6):494-497. doi: 10.1002/mdc3.12797. eCollection 2019 Jul. No abstract available.

PMID:
31392254
2.

CRISPR knockout screen implicates three genes in lysosome function.

Lenk GM, Park YN, Lemons R, Flynn E, Plank M, Frei CM, Davis MJ, Gregorka B, Swanson JA, Meisler MH, Kitzman JO.

Sci Rep. 2019 Jul 3;9(1):9609. doi: 10.1038/s41598-019-45939-w.

3.

Correction: The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation (doi:10.1242/jcs.229500).

Bissig C, Croisé P, Heiligenstein X, Hurbain I, Lenk GM, Kaufman E, Sannerud R, Annaert W, Meisler MH, Weisman LS, Raposo G, van Niel G.

J Cell Sci. 2019 Mar 28;132(6). pii: jcs231746. doi: 10.1242/jcs.231746. No abstract available.

4.

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.

Hum Mutat. 2019 May;40(5):619-630. doi: 10.1002/humu.23720. Epub 2019 Feb 28.

PMID:
30740813
5.

The PIKfyve complex regulates the early melanosome homeostasis required for physiological amyloid formation.

Bissig C, Croisé P, Heiligenstein X, Hurbain I, Lenk GM, Kaufman E, Sannerud R, Annaert W, Meisler MH, Weisman LS, Raposo G, van Niel G.

J Cell Sci. 2019 Feb 28;132(5). pii: jcs229500. doi: 10.1242/jcs.229500. Erratum in: J Cell Sci. 2019 Mar 28;132(6):.

6.

Protective role of the lipid phosphatase Fig4 in the adult nervous system.

Mironova YA, Lin JP, Kalinski AL, Huffman LD, Lenk GM, Havton LA, Meisler MH, Giger RJ.

Hum Mol Genet. 2018 Jul 15;27(14):2443-2453. doi: 10.1093/hmg/ddy145.

7.

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease.

Lenk GM, Szymanska K, Debska-Vielhaber G, Rydzanicz M, Walczak A, Bekiesinska-Figatowska M, Vielhaber S, Hallmann K, Stawinski P, Buehring S, Hsu DA, Kunz WS, Meisler MH, Ploski R.

Am J Hum Genet. 2016 Jul 7;99(1):188-94. doi: 10.1016/j.ajhg.2016.05.008. Epub 2016 Jun 9.

8.

PI(3,5)P2 biosynthesis regulates oligodendrocyte differentiation by intrinsic and extrinsic mechanisms.

Mironova YA, Lenk GM, Lin JP, Lee SJ, Twiss JL, Vaccari I, Bolino A, Havton LA, Min SH, Abrams CS, Shrager P, Meisler MH, Giger RJ.

Elife. 2016 Mar 23;5. pii: e13023. doi: 10.7554/eLife.13023.

9.

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. 2016 Jan 15;25(2):340-7. doi: 10.1093/hmg/ddv480. Epub 2015 Nov 24.

10.

Response.

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.

PMID:
25617004
11.

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.

12.

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.

13.

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.

14.

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.

15.

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.

16.

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.

17.

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.

18.

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.

19.

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.

20.

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.

21.

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.

22.

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.

23.

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.

24.

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.

25.

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.

26.

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.

27.

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.

28.

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.

29.

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.

30.

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.

31.

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
32.

The same sequence variant on 9p21 associates with myocardial infarction, abdominal aortic aneurysm and intracranial aneurysm.

Helgadottir A, Thorleifsson G, Magnusson KP, Grétarsdottir S, Steinthorsdottir V, Manolescu A, Jones GT, Rinkel GJ, Blankensteijn JD, Ronkainen A, Jääskeläinen JE, Kyo Y, Lenk GM, Sakalihasan N, Kostulas K, Gottsäter A, Flex A, Stefansson H, Hansen T, Andersen G, Weinsheimer S, Borch-Johnsen K, Jorgensen T, Shah SH, Quyyumi AA, Granger CB, Reilly MP, Austin H, Levey AI, Vaccarino V, Palsdottir E, Walters GB, Jonsdottir T, Snorradottir S, Magnusdottir D, Gudmundsson G, Ferrell RE, Sveinbjornsdottir S, Hernesniemi J, Niemelä M, Limet R, Andersen K, Sigurdsson G, Benediktsson R, Verhoeven EL, Teijink JA, Grobbee DE, Rader DJ, Collier DA, Pedersen O, Pola R, Hillert J, Lindblad B, Valdimarsson EM, Magnadottir HB, Wijmenga C, Tromp G, Baas AF, Ruigrok YM, van Rij AM, Kuivaniemi H, Powell JT, Matthiasson SE, Gulcher JR, Thorgeirsson G, Kong A, Thorsteinsdottir U, Stefansson K.

Nat Genet. 2008 Feb;40(2):217-24. doi: 10.1038/ng.72. Epub 2008 Jan 6.

PMID:
18176561
33.

Integration of expression profiles and genetic mapping data to identify candidate genes in intracranial aneurysm.

Weinsheimer S, Lenk GM, van der Voet M, Land S, Ronkainen A, Alafuzoff I, Kuivaniemi H, Tromp G.

Physiol Genomics. 2007 Dec 19;32(1):45-57. Epub 2007 Sep 18.

PMID:
17878320
34.

Whole genome expression profiling reveals a significant role for immune function in human abdominal aortic aneurysms.

Lenk GM, Tromp G, Weinsheimer S, Gatalica Z, Berguer R, Kuivaniemi H.

BMC Genomics. 2007 Jul 16;8:237.

35.

Global expression profiles in human normal and aneurysmal abdominal aorta based on two distinct whole genome microarray platforms.

Lenk GM, Tromp G, Skunca M, Gatalica Z, Berguer R, Kuivaniemi H.

Ann N Y Acad Sci. 2006 Nov;1085:360-2.

36.

Candidate-gene association study of mothers with pre-eclampsia, and their infants, analyzing 775 SNPs in 190 genes.

Goddard KA, Tromp G, Romero R, Olson JM, Lu Q, Xu Z, Parimi N, Nien JK, Gomez R, Behnke E, Solari M, Espinoza J, Santolaya J, Chaiworapongsa T, Lenk GM, Volkenant K, Anant MK, Salisbury BA, Carr J, Lee MS, Vovis GF, Kuivaniemi H.

Hum Hered. 2007;63(1):1-16. Epub 2006 Dec 14.

PMID:
17179726

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