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Items: 1 to 50 of 114

1.

Primary cilia defects causing mitral valve prolapse.

Toomer KA, Yu M, Fulmer D, Guo L, Moore KS, Moore R, Drayton KD, Glover J, Peterson N, Ramos-Ortiz S, Drohan A, Catching BJ, Stairley R, Wessels A, Lipschutz JH, Delling FN, Jeunemaitre X, Dina C, Collins RL, Brand H, Talkowski ME, Del Monte F, Mukherjee R, Awgulewitsch A, Body S, Hardiman G, Hazard ES, da Silveira WA, Wang B, Leyne M, Durst R, Markwald RR, Le Scouarnec S, Hagege A, Le Tourneau T, Kohl P, Rog-Zielinska EA, Ellinor PT, Levine RA, Milan DJ, Schott JJ, Bouatia-Naji N, Slaugenhaupt SA, Norris RA.

Sci Transl Med. 2019 May 22;11(493). pii: eaax0290. doi: 10.1126/scitranslmed.aax0290.

PMID:
31118289
2.

Genome-Wide Association Study-Driven Gene-Set Analyses, Genetic, and Functional Follow-Up Suggest GLIS1 as a Susceptibility Gene for Mitral Valve Prolapse.

Yu M, Georges A, Tucker NR, Kyryachenko S, Toomer K, Schott JJ, Delling FN, Fernandez-Friera L, Solis J, Ellinor PT, Levine RA, Slaugenhaupt SA, Hagège AA, Dina C, Jeunemaitre X, Milan DJ, Norris RA, Bouatia-Naji N.

Circ Genom Precis Med. 2019 May;12(5):e002497. doi: 10.1161/CIRCGEN.119.002497.

PMID:
31112420
3.

ELP1 Splicing Correction Reverses Proprioceptive Sensory Loss in Familial Dysautonomia.

Morini E, Gao D, Montgomery CM, Salani M, Mazzasette C, Krussig TA, Swain B, Dietrich P, Narasimhan J, Gabbeta V, Dakka A, Hedrick J, Zhao X, Weetall M, Naryshkin NA, Wojtkiewicz GG, Ko CP, Talkowski ME, Dragatsis I, Slaugenhaupt SA.

Am J Hum Genet. 2019 Apr 4;104(4):638-650. doi: 10.1016/j.ajhg.2019.02.009. Epub 2019 Mar 21.

PMID:
30905397
4.

Development of a Screening Platform to Identify Small Molecules That Modify ELP1 Pre-mRNA Splicing in Familial Dysautonomia.

Salani M, Urbina F, Brenner A, Morini E, Shetty R, Gallagher CS, Law EA, Sunshine S, Finneran DJ, Johnson G, Minor L, Slaugenhaupt SA.

SLAS Discov. 2019 Jan;24(1):57-67. doi: 10.1177/2472555218792264. Epub 2018 Aug 7.

PMID:
30085848
5.

Fingolimod Phosphate Inhibits Astrocyte Inflammatory Activity in Mucolipidosis IV.

Weinstock L, Furness AM, Herron S, Smith SS, Sankar S, DeRosa SG, Gao D, Mepyans ME, Scotto Rosato A, Medina DL, Vardi A, Ferreira NS, Cho SM, Futerman AH, Slaugenhaupt SA, Wood LB, Grishchuk Y.

Hum Mol Genet. 2018 May 16. doi: 10.1093/hmg/ddy182. [Epub ahead of print]

PMID:
29771310
6.

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.

Donadon I, Pinotti M, Rajkowska K, Pianigiani G, Barbon E, Morini E, Motaln H, Rogelj B, Mingozzi F, Slaugenhaupt SA, Pagani F.

Hum Mol Genet. 2018 Jul 15;27(14):2466-2476. doi: 10.1093/hmg/ddy151.

7.

Robust lysosomal calcium signaling through channel TRPML1 is impaired by lysosomal lipid accumulation.

Gómez NM, Lu W, Lim JC, Kiselyov K, Campagno KE, Grishchuk Y, Slaugenhaupt SA, Pfeffer BA, Fliesler SJ, Mitchell CH.

FASEB J. 2018 Feb;32(2):782-794. doi: 10.1096/fj.201700220RR. Epub 2018 Jan 4.

8.

New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.

Le Tourneau T, Le Scouarnec S, Cueff C, Bernstein D, Aalberts JJJ, Lecointe S, Mérot J, Bernstein JA, Oomen T, Dina C, Karakachoff M, Desal H, Al Habash O, Delling FN, Capoulade R, Suurmeijer AJH, Milan D, Norris RA, Markwald R, Aikawa E, Slaugenhaupt SA, Jeunemaitre X, Hagège A, Roussel JC, Trochu JN, Levine RA, Kyndt F, Probst V, Le Marec H, Schott JJ.

Eur Heart J. 2018 Apr 14;39(15):1269-1277. doi: 10.1093/eurheartj/ehx505.

9.

Small Molecules for Early Endosome-Specific Patch Clamping.

Chen CC, Butz ES, Chao YK, Grishchuk Y, Becker L, Heller S, Slaugenhaupt SA, Biel M, Wahl-Schott C, Grimm C.

Cell Chem Biol. 2017 Jul 20;24(7):907-916.e4. doi: 10.1016/j.chembiol.2017.05.025.

10.

Familial dysautonomia: History, genotype, phenotype and translational research.

Norcliffe-Kaufmann L, Slaugenhaupt SA, Kaufmann H.

Prog Neurobiol. 2017 May;152:131-148. doi: 10.1016/j.pneurobio.2016.06.003. Epub 2016 Jun 15. Review.

PMID:
27317387
11.

Implementation of Electronic Consent at a Biobank: An Opportunity for Precision Medicine Research.

Boutin NT, Mathieu K, Hoffnagle AG, Allen NL, Castro VM, Morash M, O'Rourke PP, Hohmann EL, Herring N, Bry L, Slaugenhaupt SA, Karlson EW, Weiss ST, Smoller JW.

J Pers Med. 2016 Jun 9;6(2). pii: E17. doi: 10.3390/jpm6020017.

12.

Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia.

Morini E, Dietrich P, Salani M, Downs HM, Wojtkiewicz GR, Alli S, Brenner A, Nilbratt M, LeClair JW, Oaklander AL, Slaugenhaupt SA, Dragatsis I.

Hum Mol Genet. 2016 Mar 15;25(6):1116-28. doi: 10.1093/hmg/ddv634. Epub 2016 Jan 13.

13.

Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV.

Grishchuk Y, Stember KG, Matsunaga A, Olivares AM, Cruz NM, King VE, Humphrey DM, Wang SL, Muzikansky A, Betensky RA, Thoreson WB, Haider N, Slaugenhaupt SA.

Am J Pathol. 2016 Jan;186(1):199-209. doi: 10.1016/j.ajpath.2015.09.017. Epub 2015 Nov 20.

14.

Mitral valve disease--morphology and mechanisms.

Levine RA, Hagége AA, Judge DP, Padala M, Dal-Bianco JP, Aikawa E, Beaudoin J, Bischoff J, Bouatia-Naji N, Bruneval P, Butcher JT, Carpentier A, Chaput M, Chester AH, Clusel C, Delling FN, Dietz HC, Dina C, Durst R, Fernandez-Friera L, Handschumacher MD, Jensen MO, Jeunemaitre XP, Le Marec H, Le Tourneau T, Markwald RR, Mérot J, Messas E, Milan DP, Neri T, Norris RA, Peal D, Perrocheau M, Probst V, Pucéat M, Rosenthal N, Solis J, Schott JJ, Schwammenthal E, Slaugenhaupt SA, Song JK, Yacoub MH; Leducq Mitral Transatlantic Network.

Nat Rev Cardiol. 2015 Dec;12(12):689-710. doi: 10.1038/nrcardio.2015.161. Epub 2015 Oct 20. Review.

15.

Response to Letter Regarding Article, "Familial Clustering of Mitral Valve Prolapse in the Community".

Delling FN, Rong J, Larson MG, Lehman B, Osypiuk E, Stantchev P, Slaugenhaupt SA, Benjamin EJ, Levine RA, Vasan RS.

Circulation. 2015 Oct 6;132(14):e187-8. doi: 10.1161/CIRCULATIONAHA.115.016788. No abstract available.

16.

Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV.

Grishchuk Y, Peña KA, Coblentz J, King VE, Humphrey DM, Wang SL, Kiselyov KI, Slaugenhaupt SA.

Dis Model Mech. 2015 Dec;8(12):1591-601. doi: 10.1242/dmm.021154. Epub 2015 Sep 17.

17.

Genetic association analyses highlight biological pathways underlying mitral valve prolapse.

Dina C, Bouatia-Naji N, Tucker N, Delling FN, Toomer K, Durst R, Perrocheau M, Fernandez-Friera L, Solis J; PROMESA investigators, Le Tourneau T, Chen MH, Probst V, Bosse Y, Pibarot P, Zelenika D, Lathrop M, Hercberg S, Roussel R, Benjamin EJ, Bonnet F, Lo SH, Dolmatova E, Simonet F, Lecointe S, Kyndt F, Redon R, Le Marec H, Froguel P, Ellinor PT, Vasan RS, Bruneval P, Markwald RR, Norris RA, Milan DJ, Slaugenhaupt SA, Levine RA, Schott JJ, Hagege AA; MVP-France, Jeunemaitre X; Leducq Transatlantic MITRAL Network.

Nat Genet. 2015 Oct;47(10):1206-11. doi: 10.1038/ng.3383. Epub 2015 Aug 24.

18.

Mutations in DCHS1 cause mitral valve prolapse.

Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA.

Nature. 2015 Sep 3;525(7567):109-13. doi: 10.1038/nature14670. Epub 2015 Aug 10.

19.

Familial clustering of mitral valve prolapse in the community.

Delling FN, Rong J, Larson MG, Lehman B, Osypiuk E, Stantchev P, Slaugenhaupt SA, Benjamin EJ, Levine RA, Vasan RS.

Circulation. 2015 Jan 20;131(3):263-8. doi: 10.1161/CIRCULATIONAHA.114.012594. Epub 2014 Oct 31.

20.

Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV.

Grishchuk Y, Sri S, Rudinskiy N, Ma W, Stember KG, Cottle MW, Sapp E, Difiglia M, Muzikansky A, Betensky RA, Wong AM, Bacskai BJ, Hyman BT, Kelleher RJ 3rd, Cooper JD, Slaugenhaupt SA.

Acta Neuropathol Commun. 2014 Sep 9;2:133. doi: 10.1186/s40478-014-0133-7.

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.

22.

Developmental basis for filamin-A-associated myxomatous mitral valve disease.

Sauls K, de Vlaming A, Harris BS, Williams K, Wessels A, Levine RA, Slaugenhaupt SA, Goodwin RL, Pavone LM, Merot J, Schott JJ, Le Tourneau T, Dix T, Jesinkey S, Feng Y, Walsh C, Zhou B, Baldwin S, Markwald RR, Norris RA.

Cardiovasc Res. 2012 Oct 1;96(1):109-19. doi: 10.1093/cvr/cvs238. Epub 2012 Jul 25.

23.

Autophagy in lysosomal storage disorders.

Lieberman AP, Puertollano R, Raben N, Slaugenhaupt S, Walkley SU, Ballabio A.

Autophagy. 2012 May 1;8(5):719-30. doi: 10.4161/auto.19469. Epub 2012 May 1. Review.

24.

Atrioventricular valve development: new perspectives on an old theme.

de Vlaming A, Sauls K, Hajdu Z, Visconti RP, Mehesz AN, Levine RA, Slaugenhaupt SA, Hagège A, Chester AH, Markwald RR, Norris RA.

Differentiation. 2012 Jul;84(1):103-16. doi: 10.1016/j.diff.2012.04.001. Epub 2012 May 11. Review.

25.

Specific correction of a splice defect in brain by nutritional supplementation.

Shetty RS, Gallagher CS, Chen YT, Hims MM, Mull J, Leyne M, Pickel J, Kwok D, Slaugenhaupt SA.

Hum Mol Genet. 2011 Nov 1;20(21):4093-101. doi: 10.1093/hmg/ddr333. Epub 2011 Aug 5.

26.

Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia.

Axelrod FB, Liebes L, Gold-Von Simson G, Mendoza S, Mull J, Leyne M, Norcliffe-Kaufmann L, Kaufmann H, Slaugenhaupt SA.

Pediatr Res. 2011 Nov;70(5):480-3. doi: 10.1203/PDR.0b013e31822e1825.

27.

The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain.

LaPlante JM, Falardeau JL, Brown EM, Slaugenhaupt SA, Vassilev PM.

Exp Cell Res. 2011 Apr 1;317(6):691-705. doi: 10.1016/j.yexcr.2011.01.008. Epub 2011 Jan 20.

28.

Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel.

Eichelsdoerfer JL, Evans JA, Slaugenhaupt SA, Cuajungco MP.

J Biol Chem. 2010 Nov 5;285(45):34304-8. doi: 10.1074/jbc.C110.165480. Epub 2010 Sep 23.

29.

Macroautophagy is defective in mucolipin-1-deficient mouse neurons.

Curcio-Morelli C, Charles FA, Micsenyi MC, Cao Y, Venugopal B, Browning MF, Dobrenis K, Cotman SL, Walkley SU, Slaugenhaupt SA.

Neurobiol Dis. 2010 Nov;40(2):370-7. doi: 10.1016/j.nbd.2010.06.010. Epub 2010 Jun 28.

30.

Expression of the familial cardiac valvular dystrophy gene, filamin-A, during heart morphogenesis.

Norris RA, Moreno-Rodriguez R, Wessels A, Merot J, Bruneval P, Chester AH, Yacoub MH, Hagège A, Slaugenhaupt SA, Aikawa E, Schott JJ, Lardeux A, Harris BS, Williams LK, Richards A, Levine RA, Markwald RR.

Dev Dyn. 2010 Jul;239(7):2118-27. doi: 10.1002/dvdy.22346.

31.

Functional multimerization of mucolipin channel proteins.

Curcio-Morelli C, Zhang P, Venugopal B, Charles FA, Browning MF, Cantiello HF, Slaugenhaupt SA.

J Cell Physiol. 2010 Feb;222(2):328-35. doi: 10.1002/jcp.21956.

PMID:
19885840
32.

The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1.

Samie MA, Grimm C, Evans JA, Curcio-Morelli C, Heller S, Slaugenhaupt SA, Cuajungco MP.

Pflugers Arch. 2009 Nov;459(1):79-91. doi: 10.1007/s00424-009-0716-5.

33.

Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV.

Micsenyi MC, Dobrenis K, Stephney G, Pickel J, Vanier MT, Slaugenhaupt SA, Walkley SU.

J Neuropathol Exp Neurol. 2009 Feb;68(2):125-35. doi: 10.1097/NEN.0b013e3181942cf0.

34.

Chaperone-mediated autophagy is defective in mucolipidosis type IV.

Venugopal B, Mesires NT, Kennedy JC, Curcio-Morelli C, Laplante JM, Dice JF, Slaugenhaupt SA.

J Cell Physiol. 2009 May;219(2):344-53. doi: 10.1002/jcp.21676.

PMID:
19117012
35.

Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing.

Gold-von Simson G, Goldberg JD, Rolnitzky LM, Mull J, Leyne M, Voustianiouk A, Slaugenhaupt SA, Axelrod FB.

Pediatr Res. 2009 Mar;65(3):341-6. doi: 10.1203/PDR.0b013e318194fd52.

PMID:
19033881
36.

Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP.

Chen YT, Hims MM, Shetty RS, Mull J, Liu L, Leyne M, Slaugenhaupt SA.

Mol Cell Biol. 2009 Feb;29(3):736-44. doi: 10.1128/MCB.01313-08. Epub 2008 Nov 17.

37.

IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia.

Gold-von Simson G, Leyne M, Mull J, Rolnitzky LM, Goldberg JD, Berlin D, Axelrod FB, Slaugenhaupt SA.

Pediatr Res. 2008 Feb;63(2):186-90.

PMID:
18091349
38.

Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV.

Venugopal B, Browning MF, Curcio-Morelli C, Varro A, Michaud N, Nanthakumar N, Walkley SU, Pickel J, Slaugenhaupt SA.

Am J Hum Genet. 2007 Nov;81(5):1070-83. Epub 2007 Oct 2.

39.

A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect.

Hims MM, Shetty RS, Pickel J, Mull J, Leyne M, Liu L, Gusella JF, Slaugenhaupt SA.

Genomics. 2007 Sep;90(3):389-96. Epub 2007 Jul 17.

40.

Molecular genetics of mitral valve prolapse.

Levine RA, Slaugenhaupt SA.

Curr Opin Cardiol. 2007 May;22(3):171-5. Review.

PMID:
17413272
41.

Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia.

Hims MM, Ibrahim EC, Leyne M, Mull J, Liu L, Lazaro C, Shetty RS, Gill S, Gusella JF, Reed R, Slaugenhaupt SA.

J Mol Med (Berl). 2007 Feb;85(2):149-61. Epub 2007 Jan 6.

PMID:
17206408
42.

Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia.

Ibrahim EC, Hims MM, Shomron N, Burge CB, Slaugenhaupt SA, Reed R.

Hum Mutat. 2007 Jan;28(1):41-53.

PMID:
16964593
43.

Lysosomal exocytosis is impaired in mucolipidosis type IV.

LaPlante JM, Sun M, Falardeau J, Dai D, Brown EM, Slaugenhaupt SA, Vassilev PM.

Mol Genet Metab. 2006 Dec;89(4):339-48. Epub 2006 Aug 17.

PMID:
16914343
44.

Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia.

Close P, Hawkes N, Cornez I, Creppe C, Lambert CA, Rogister B, Siebenlist U, Merville MP, Slaugenhaupt SA, Bours V, Svejstrup JQ, Chariot A.

Mol Cell. 2006 May 19;22(4):521-31.

45.

New locus for autosomal dominant mitral valve prolapse on chromosome 13: clinical insights from genetic studies.

Nesta F, Leyne M, Yosefy C, Simpson C, Dai D, Marshall JE, Hung J, Slaugenhaupt SA, Levine RA.

Circulation. 2005 Sep 27;112(13):2022-30. Epub 2005 Sep 19.

PMID:
16172273
46.

Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression.

Axelrod FB, Goldberg JD, Rolnitzky L, Mull J, Mann SP, Gold von Simson G, Berlin D, Slaugenhaupt SA.

Clin Auton Res. 2005 Aug;15(4):284-91.

PMID:
16032383
47.

The corticotropin-releasing hormone gene and behavioral inhibition in children at risk for panic disorder.

Smoller JW, Yamaki LH, Fagerness JA, Biederman J, Racette S, Laird NM, Kagan J, Snidman N, Faraone SV, Hirshfeld-Becker D, Tsuang MT, Slaugenhaupt SA, Rosenbaum JF, Sklar PB.

Biol Psychiatry. 2005 Jun 15;57(12):1485-92.

PMID:
15953484
48.

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3.

Zeng WQ, Al-Yamani E, Acierno JS Jr, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF.

Am J Hum Genet. 2005 Jul;77(1):16-26. Epub 2005 May 3.

49.

Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV.

LaPlante JM, Ye CP, Quinn SJ, Goldin E, Brown EM, Slaugenhaupt SA, Vassilev PM.

Biochem Biophys Res Commun. 2004 Oct 1;322(4):1384-91.

PMID:
15336987
50.

Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis.

Treusch S, Knuth S, Slaugenhaupt SA, Goldin E, Grant BD, Fares H.

Proc Natl Acad Sci U S A. 2004 Mar 30;101(13):4483-8. Epub 2004 Mar 15.

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