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Susan Ann Slaugenhaupt, PH.D.

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Research
The research activities and funding listed below are automatically derived from NIH ExPORTER and other sources, which might result in incorrect or missing items. Faculty can login to make corrections and additions.
  1. R37NS095640 (SLAUGENHAUPT, SUSAN A) Jul 1, 2016 - Mar 31, 2020
    NIH/NINDS
    mRNA Splicing Modulation in Familial Dysautonomia
    Role: Principal Investigator
  2. R01NS096755 (KISELYOV, KIRILL) Apr 1, 2016 - Mar 31, 2020
    NIH/NINDS
    From brain iron deficiency to therapeutic opportunities in mucolipidosis IV
    Role: Co-Principal Investigator
  3. R21NS095437 (SLAUGENHAUPT, SUSAN A) Sep 1, 2015 - Aug 31, 2017
    NIH/NINDS
    Unraveling the therapeutic potential of a new class of splicing modulators
    Role: Principal Investigator
  4. R01HL127692 (MILAN, DAVID J) Apr 1, 2015 - Feb 28, 2019
    NIH/NHLBI
    Genetics and Mechanisms of Mitral Valve Prolapse
    Role: Co-Principal Investigator
  5. U01NS078025 (SLAUGENHAUPT, SUSAN A) Sep 1, 2012 - Aug 31, 2017
    NIH/NINDS
    Optimization of compounds to improve mRNA splicing in familial dysautonomia
    Role: Principal Investigator

Bibliographic
Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Donadon I, Pinotti M, Rajkowska K, Pianigiani G, Barbon E, Morini E, Motaln H, Rogelj B, Mingozzi F, Slaugenhaupt SA, Pagani F. Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model. Hum Mol Genet. 2018 Jul 15; 27(14):2466-2476. PMID: 29701768.
    View in: PubMed
  2. 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. Fingolimod Phosphate Inhibits Astrocyte Inflammatory Activity in Mucolipidosis IV. Hum Mol Genet. 2018 May 16. PMID: 29771310.
    View in: PubMed
  3. 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. New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study. Eur Heart J. 2018 Apr 14; 39(15):1269-1277. PMID: 29020406.
    View in: PubMed
  4. Gómez NM, Lu W, Lim JC, Kiselyov K, Campagno KE, Grishchuk Y, Slaugenhaupt SA, Pfeffer BA, Fliesler SJ, Mitchell CH. Robust lysosomal calcium signaling through channel TRPML1 is impaired by lysosomal lipid accumulation. FASEB J. 2018 Feb; 32(2):782-794. PMID: 29030399.
    View in: PubMed
  5. Chen CC, Butz ES, Chao YK, Grishchuk Y, Becker L, Heller S, Slaugenhaupt SA, Biel M, Wahl-Schott C, Grimm C. Small Molecules for Early Endosome-Specific Patch Clamping. Cell Chem Biol. 2017 Jul 20; 24(7):907-916.e4. PMID: 28732201.
    View in: PubMed
  6. Norcliffe-Kaufmann L, Slaugenhaupt SA, Kaufmann H. Familial dysautonomia: History, genotype, phenotype and translational research. Prog Neurobiol. 2017 May; 152:131-148. PMID: 27317387.
    View in: PubMed
  7. 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. Implementation of Electronic Consent at a Biobank: An Opportunity for Precision Medicine Research. J Pers Med. 2016 Jun 09; 6(2). PMID: 27294961; PMCID: PMC4932464.
  8. Morini E, Dietrich P, Salani M, Downs HM, Wojtkiewicz GR, Alli S, Brenner A, Nilbratt M, LeClair JW, Oaklander AL, Slaugenhaupt SA, Dragatsis I. Sensory and autonomic deficits in a new humanized mouse model of familial dysautonomia. Hum Mol Genet. 2016 Mar 15; 25(6):1116-28. PMID: 26769677; PMCID: PMC4764193 [Available on 03/15/17].
  9. 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. Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV. Am J Pathol. 2016 Jan; 186(1):199-209. PMID: 26608452; PMCID: PMC4715222 [Available on 01/01/17].
  10. 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. Mitral valve disease--morphology and mechanisms. Nat Rev Cardiol. 2015 Dec; 12(12):689-710. PMID: 26483167; PMCID: PMC4804623.
  11. Delling FN, Rong J, Larson MG, Lehman B, Osypiuk E, Stantchev P, Slaugenhaupt SA, Benjamin EJ, Levine RA, Vasan RS. Response to Letter Regarding Article, "Familial Clustering of Mitral Valve Prolapse in the Community". Circulation. 2015 Oct 06; 132(14):e187-8. PMID: 26438779; PMCID: PMC4620666 [Available on 10/06/16].
  12. Grishchuk Y, Peña KA, Coblentz J, King VE, Humphrey DM, Wang SL, Kiselyov KI, Slaugenhaupt SA. Impaired myelination and reduced brain ferric iron in the mouse model of mucolipidosis IV. Dis Model Mech. 2015 Dec; 8(12):1591-601. PMID: 26398942; PMCID: PMC4728313.
  13. Dina C, Bouatia-Naji N, Tucker N, Delling FN, Toomer K, Durst R, Perrocheau M, Fernandez-Friera L, Solis J, 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, Jeunemaitre X. Genetic association analyses highlight biological pathways underlying mitral valve prolapse. Nat Genet. 2015 Oct; 47(10):1206-11. PMID: 26301497; PMCID: PMC4773907.
  14. 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. Mutations in DCHS1 cause mitral valve prolapse. Nature. 2015 Sep 03; 525(7567):109-13. PMID: 26258302; PMCID: PMC4720389.
  15. Delling FN, Rong J, Larson MG, Lehman B, Osypiuk E, Stantchev P, Slaugenhaupt SA, Benjamin EJ, Levine RA, Vasan RS. Familial clustering of mitral valve prolapse in the community. Circulation. 2015 Jan 20; 131(3):263-8. PMID: 25361552; PMCID: PMC4301989.
  16. 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, Cooper JD, Slaugenhaupt SA. Behavioral deficits, early gliosis, dysmyelination and synaptic dysfunction in a mouse model of mucolipidosis IV. Acta Neuropathol Commun. 2014 Sep 09; 2:133. PMID: 25200117.
    View in: PubMed
  17. 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. A TRP channel in the lysosome regulates large particle phagocytosis via focal exocytosis. Dev Cell. 2013 Sep 16; 26(5):511-24. PMID: 23993788.
    View in: PubMed
  18. 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. Developmental basis for filamin-A-associated myxomatous mitral valve disease. Cardiovasc Res. 2012 Oct 01; 96(1):109-19. PMID: 22843703; PMCID: PMC3444235.
  19. de Vlaming A, Sauls K, Hajdu Z, Visconti RP, Mehesz AN, Levine RA, Slaugenhaupt SA, Hagège A, Chester AH, Markwald RR, Norris RA. Atrioventricular valve development: new perspectives on an old theme. Differentiation. 2012 Jul; 84(1):103-16. PMID: 22579502; PMCID: PMC3389153.
  20. Lieberman AP, Puertollano R, Raben N, Slaugenhaupt S, Walkley SU, Ballabio A. Autophagy in lysosomal storage disorders. Autophagy. 2012 May 01; 8(5):719-30. PMID: 22647656; PMCID: PMC3378416.
  21. Axelrod FB, Liebes L, Gold-Von Simson G, Mendoza S, Mull J, Leyne M, Norcliffe-Kaufmann L, Kaufmann H, Slaugenhaupt SA. Kinetin improves IKBKAP mRNA splicing in patients with familial dysautonomia. Pediatr Res. 2011 Nov; 70(5):480-3. PMID: 21775922; PMCID: PMC3189334.
  22. Shetty RS, Gallagher CS, Chen YT, Hims MM, Mull J, Leyne M, Pickel J, Kwok D, Slaugenhaupt SA. Specific correction of a splice defect in brain by nutritional supplementation. Hum Mol Genet. 2011 Nov 01; 20(21):4093-101. PMID: 21821670; PMCID: PMC3188989.
  23. LaPlante JM, Falardeau JL, Brown EM, Slaugenhaupt SA, Vassilev PM. The cation channel mucolipin-1 is a bifunctional protein that facilitates membrane remodeling via its serine lipase domain. Exp Cell Res. 2011 Apr 01; 317(6):691-705. PMID: 21256127; PMCID: PMC3103141.
  24. Eichelsdoerfer JL, Evans JA, Slaugenhaupt SA, Cuajungco MP. Zinc dyshomeostasis is linked with the loss of mucolipidosis IV-associated TRPML1 ion channel. J Biol Chem. 2010 Nov 05; 285(45):34304-8. PMID: 20864526; PMCID: PMC2966043.
  25. 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. Expression of the familial cardiac valvular dystrophy gene, filamin-A, during heart morphogenesis. Dev Dyn. 2010 Jul; 239(7):2118-27. PMID: 20549728; PMCID: PMC2909582.
  26. Curcio-Morelli C, Charles FA, Micsenyi MC, Cao Y, Venugopal B, Browning MF, Dobrenis K, Cotman SL, Walkley SU, Slaugenhaupt SA. Macroautophagy is defective in mucolipin-1-deficient mouse neurons. Neurobiol Dis. 2010 Nov; 40(2):370-7. PMID: 20600908; PMCID: PMC4392647.
  27. Curcio-Morelli C, Zhang P, Venugopal B, Charles FA, Browning MF, Cantiello HF, Slaugenhaupt SA. Functional multimerization of mucolipin channel proteins. J Cell Physiol. 2010 Feb; 222(2):328-35. PMID: 19885840.
    View in: PubMed
  28. Samie MA, Grimm C, Evans JA, Curcio-Morelli C, Heller S, Slaugenhaupt SA, Cuajungco MP. The tissue-specific expression of TRPML2 (MCOLN-2) gene is influenced by the presence of TRPML1. Pflugers Arch. 2009 Nov; 459(1):79-91. PMID: 19763610; PMCID: PMC2913554.
  29. Venugopal B, Mesires NT, Kennedy JC, Curcio-Morelli C, Laplante JM, Dice JF, Slaugenhaupt SA. Chaperone-mediated autophagy is defective in mucolipidosis type IV. J Cell Physiol. 2009 May; 219(2):344-53. PMID: 19117012.
    View in: PubMed
  30. Gold-von Simson G, Goldberg JD, Rolnitzky LM, Mull J, Leyne M, Voustianiouk A, Slaugenhaupt SA, Axelrod FB. Kinetin in familial dysautonomia carriers: implications for a new therapeutic strategy targeting mRNA splicing. Pediatr Res. 2009 Mar; 65(3):341-6. PMID: 19033881.
    View in: PubMed
  31. Micsenyi MC, Dobrenis K, Stephney G, Pickel J, Vanier MT, Slaugenhaupt SA, Walkley SU. Neuropathology of the Mcoln1(-/-) knockout mouse model of mucolipidosis type IV. J Neuropathol Exp Neurol. 2009 Feb; 68(2):125-35. PMID: 19151629; PMCID: PMC4232971.
  32. Chen YT, Hims MM, Shetty RS, Mull J, Liu L, Leyne M, Slaugenhaupt SA. Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP. Mol Cell Biol. 2009 Feb; 29(3):736-44. PMID: 19015235; PMCID: PMC2630687.
  33. Gold-von Simson G, Leyne M, Mull J, Rolnitzky LM, Goldberg JD, Berlin D, Axelrod FB, Slaugenhaupt SA. IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia. Pediatr Res. 2008 Feb; 63(2):186-90. PMID: 18091349.
    View in: PubMed
  34. Venugopal B, Browning MF, Curcio-Morelli C, Varro A, Michaud N, Nanthakumar N, Walkley SU, Pickel J, Slaugenhaupt SA. Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV. Am J Hum Genet. 2007 Nov; 81(5):1070-83. PMID: 17924347; PMCID: PMC2265643.
  35. Hims MM, Shetty RS, Pickel J, Mull J, Leyne M, Liu L, Gusella JF, Slaugenhaupt SA. A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect. Genomics. 2007 Sep; 90(3):389-96. PMID: 17644305; PMCID: PMC1976430.
  36. Levine RA, Slaugenhaupt SA. Molecular genetics of mitral valve prolapse. Curr Opin Cardiol. 2007 May; 22(3):171-5. PMID: 17413272.
    View in: PubMed
  37. Hims MM, Ibrahim EC, Leyne M, Mull J, Liu L, Lazaro C, Shetty RS, Gill S, Gusella JF, Reed R, Slaugenhaupt SA. Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia. J Mol Med (Berl). 2007 Feb; 85(2):149-61. PMID: 17206408.
    View in: PubMed
  38. Ibrahim EC, Hims MM, Shomron N, Burge CB, Slaugenhaupt SA, Reed R. Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia. Hum Mutat. 2007 Jan; 28(1):41-53. PMID: 16964593.
    View in: PubMed
  39. LaPlante JM, Sun M, Falardeau J, Dai D, Brown EM, Slaugenhaupt SA, Vassilev PM. Lysosomal exocytosis is impaired in mucolipidosis type IV. Mol Genet Metab. 2006 Dec; 89(4):339-48. PMID: 16914343.
    View in: PubMed
  40. Close P, Hawkes N, Cornez I, Creppe C, Lambert CA, Rogister B, Siebenlist U, Merville MP, Slaugenhaupt SA, Bours V, Svejstrup JQ, Chariot A. Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia. Mol Cell. 2006 May 19; 22(4):521-31. PMID: 16713582.
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  41. Nesta F, Leyne M, Yosefy C, Simpson C, Dai D, Marshall JE, Hung J, Slaugenhaupt SA, Levine RA. New locus for autosomal dominant mitral valve prolapse on chromosome 13: clinical insights from genetic studies. Circulation. 2005 Sep 27; 112(13):2022-30. PMID: 16172273.
    View in: PubMed
  42. Axelrod FB, Goldberg JD, Rolnitzky L, Mull J, Mann SP, Gold von Simson G, Berlin D, Slaugenhaupt SA. Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression. Clin Auton Res. 2005 Aug; 15(4):284-91. PMID: 16032383.
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  43. 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. The corticotropin-releasing hormone gene and behavioral inhibition in children at risk for panic disorder. Biol Psychiatry. 2005 Jun 15; 57(12):1485-92. PMID: 15953484.
    View in: PubMed
  44. Zeng WQ, Al-Yamani E, Acierno JS, Slaugenhaupt S, Gillis T, MacDonald ME, Ozand PT, Gusella JF. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet. 2005 Jul; 77(1):16-26. PMID: 15871139; PMCID: PMC1226189.
  45. LaPlante JM, Ye CP, Quinn SJ, Goldin E, Brown EM, Slaugenhaupt SA, Vassilev PM. Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV. Biochem Biophys Res Commun. 2004 Oct 01; 322(4):1384-91. PMID: 15336987.
    View in: PubMed
  46. Treusch S, Knuth S, Slaugenhaupt SA, Goldin E, Grant BD, Fares H. Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis. Proc Natl Acad Sci U S A. 2004 Mar 30; 101(13):4483-8. PMID: 15070744; PMCID: PMC384773.
  47. Slaugenhaupt SA, Mull J, Leyne M, Cuajungco MP, Gill SP, Hims MM, Quintero F, Axelrod FB, Gusella JF. Rescue of a human mRNA splicing defect by the plant cytokinin kinetin. Hum Mol Genet. 2004 Feb 15; 13(4):429-36. PMID: 14709595.
    View in: PubMed
  48. Smoller JW, Rosenbaum JF, Biederman J, Kennedy J, Dai D, Racette SR, Laird NM, Kagan J, Snidman N, Hirshfeld-Becker D, Tsuang MT, Sklar PB, Slaugenhaupt SA. Association of a genetic marker at the corticotropin-releasing hormone locus with behavioral inhibition. Biol Psychiatry. 2003 Dec 15; 54(12):1376-81. PMID: 14675801.
    View in: PubMed
  49. Seminara SB, Messager S, Chatzidaki EE, Thresher RR, Acierno JS, Shagoury JK, Bo-Abbas Y, Kuohung W, Schwinof KM, Hendrick AG, Zahn D, Dixon J, Kaiser UB, Slaugenhaupt SA, Gusella JF, O'Rahilly S, Carlton MB, Crowley WF, Aparicio SA, Colledge WH. The GPR54 gene as a regulator of puberty. N Engl J Med. 2003 Oct 23; 349(17):1614-27. PMID: 14573733.
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  50. Mezey E, Parmalee A, Szalayova I, Gill SP, Cuajungco MP, Leyne M, Slaugenhaupt SA, Brownstein MJ. Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia? Brain Res. 2003 Sep 05; 983(1-2):209-14. PMID: 12914982.
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  51. Cuajungco MP, Ando Y, Axelrod FB, Biaggioni I, Goldstein DS, Guttmacher AE, Gwinn-Hardy K, Hahn MK, Hilz MJ, Jacob G, Jens J, Kennedy WR, Liggett SB, O'Connor DT, Peltzer SR, Robertson D, Rubin BY, Scudder Q, Smith LJ, Sonenshein GE, Svejstrup JQ, Xu Y, Slaugenhaupt SA. Hereditary dysautonomias: current knowledge and collaborations for the future. Clin Auton Res. 2003 Jun; 13(3):180-95. PMID: 12822040.
    View in: PubMed
  52. Leyne M, Mull J, Gill SP, Cuajungco MP, Oddoux C, Blumenfeld A, Maayan C, Gusella JF, Axelrod FB, Slaugenhaupt SA. Identification of the first non-Jewish mutation in familial Dysautonomia. Am J Med Genet A. 2003 May 01; 118A(4):305-8. PMID: 12687659.
    View in: PubMed
  53. Freed LA, Acierno JS, Dai D, Leyne M, Marshall JE, Nesta F, Levine RA, Slaugenhaupt SA. A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4. Am J Hum Genet. 2003 Jun; 72(6):1551-9. PMID: 12707861; PMCID: PMC1180315.
  54. Cuajungco MP, Leyne M, Mull J, Gill SP, Lu W, Zagzag D, Axelrod FB, Maayan C, Gusella JF, Slaugenhaupt SA. Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia. Am J Hum Genet. 2003 Mar; 72(3):749-58. PMID: 12577200; PMCID: PMC1180251.
  55. LaPlante JM, Falardeau J, Sun M, Kanazirska M, Brown EM, Slaugenhaupt SA, Vassilev PM. Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway. FEBS Lett. 2002 Dec 04; 532(1-2):183-7. PMID: 12459486.
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  56. Altarescu G, Sun M, Moore DF, Smith JA, Wiggs EA, Solomon BI, Patronas NJ, Frei KP, Gupta S, Kaneski CR, Quarrell OW, Slaugenhaupt SA, Goldin E, Schiffmann R. The neurogenetics of mucolipidosis type IV. Neurology. 2002 Aug 13; 59(3):306-13. PMID: 12182165.
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  57. Slaugenhaupt SA. The molecular basis of mucolipidosis type IV. Curr Mol Med. 2002 Aug; 2(5):445-50. PMID: 12125810.
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  58. Arboleda-Velasquez JF, Lopera F, Lopez E, Frosch MP, Sepulveda-Falla D, Gutierrez JE, Vargas S, Medina M, Martinez De Arrieta C, Lebo RV, Slaugenhaupt SA, Betensky RA, Villegas A, Arcos-Burgos M, Rivera D, Restrepo JC, Kosik KS. C455R notch3 mutation in a Colombian CADASIL kindred with early onset of stroke. Neurology. 2002 Jul 23; 59(2):277-9. PMID: 12136071.
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  59. Slaugenhaupt SA, Gusella JF. Familial dysautonomia. Curr Opin Genet Dev. 2002 Jun; 12(3):307-11. PMID: 12076674.
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  60. Slaugenhaupt SA. Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene. Clin Auton Res. 2002 May; 12 Suppl 1:I15-9. PMID: 12102458.
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  61. Falardeau JL, Kennedy JC, Acierno JS, Sun M, Stahl S, Goldin E, Slaugenhaupt SA. Cloning and characterization of the mouse Mcoln1 gene reveals an alternatively spliced transcript not seen in humans. BMC Genomics. 2002; 3:3. PMID: 11897010; PMCID: PMC88885.
  62. Fini ME, Slaugenhaupt SA. Enzymatic mechanisms in corneal ulceration with specific reference to familial dysautonomia: potential for genetic approaches. Adv Exp Med Biol. 2002; 506(Pt A):629-39. PMID: 12613971.
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  63. Cuajungco MP, Leyne M, Mull J, Gill SP, Gusella JF, Slaugenhaupt SA. Cloning, characterization, and genomic structure of the mouse Ikbkap gene. DNA Cell Biol. 2001 Sep; 20(9):579-86. PMID: 11747609.
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  64. Acierno JS, Kennedy JC, Falardeau JL, Leyne M, Bromley MC, Colman MW, Sun M, Bove C, Ashworth LK, Chadwick LH, Schiripo T, Ma S, Goldin E, Schiffmann R, Slaugenhaupt SA. A physical and transcript map of the MCOLN1 gene region on human chromosome 19p13.3-p13.2. Genomics. 2001 Apr 15; 73(2):203-10. PMID: 11318610.
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  65. Smoller JW, Rosenbaum JF, Biederman J, Susswein LS, Kennedy J, Kagan J, Snidman N, Laird N, Tsuang MT, Faraone SV, Schwarz A, Slaugenhaupt SA. Genetic association analysis of behavioral inhibition using candidate loci from mouse models. Am J Med Genet. 2001 Apr 08; 105(3):226-35. PMID: 11353440.
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  66. Smoller JW, Acierno JS, Rosenbaum JF, Biederman J, Pollack MH, Meminger S, Pava JA, Chadwick LH, White C, Bulzacchelli M, Slaugenhaupt SA. Targeted genome screen of panic disorder and anxiety disorder proneness using homology to murine QTL regions. Am J Med Genet. 2001 Mar 08; 105(2):195-206. PMID: 11304837.
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  67. Slaugenhaupt SA, Blumenfeld A, Gill SP, Leyne M, Mull J, Cuajungco MP, Liebert CB, Chadwick B, Idelson M, Reznik L, Robbins C, Makalowska I, Brownstein M, Krappmann D, Scheidereit C, Maayan C, Axelrod FB, Gusella JF. Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia. Am J Hum Genet. 2001 Mar; 68(3):598-605. PMID: 11179008; PMCID: PMC1274473.
  68. Sun M, Goldin E, Stahl S, Falardeau JL, Kennedy JC, Acierno JS, Bove C, Kaneski CR, Nagle J, Bromley MC, Colman M, Schiffmann R, Slaugenhaupt SA. Mucolipidosis type IV is caused by mutations in a gene encoding a novel transient receptor potential channel. Hum Mol Genet. 2000 Oct 12; 9(17):2471-8. PMID: 11030752.
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  69. Togawa K, Yan YX, Inomoto T, Slaugenhaupt S, Rustgi AK. Intestinal cell kinase (ICK) localizes to the crypt region and requires a dual phosphorylation site found in map kinases. J Cell Physiol. 2000 Apr; 183(1):129-39. PMID: 10699974.
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  70. Chadwick BP, Leyne M, Gill S, Liebert CB, Mull J, Mezey E, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA. Cloning, mapping, and expression of a novel brain-specific transcript in the familial dysautonomia candidate region on chromosome 9q31. Mamm Genome. 2000 Jan; 11(1):81-3. PMID: 10603000.
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  71. Chadwick BP, Gill S, Leyne M, Mull J, Liebert CB, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Slaugenhaupt SA. Cloning, genomic organization and expression of a putative human transmembrane protein related to the Caenorhabditis elegans M01F1.4 gene. Gene. 1999 Nov 15; 240(1):67-73. PMID: 10564813.
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  72. Slaugenhaupt SA, Acierno JS, Helbling LA, Bove C, Goldin E, Bach G, Schiffmann R, Gusella JF. Mapping of the mucolipidosis type IV gene to chromosome 19p and definition of founder haplotypes. Am J Hum Genet. 1999 Sep; 65(3):773-8. PMID: 10441585; PMCID: PMC1377985.
  73. Chadwick BP, Mull J, Helbling LA, Gill S, Leyne M, Robbins CM, Pinkett HW, Makalowska I, Maayan C, Blumenfeld A, Axelrod FB, Brownstein M, Gusella JF, Slaugenhaupt SA. Cloning, mapping, and expression of two novel actin genes, actin-like-7A (ACTL7A) and actin-like-7B (ACTL7B), from the familial dysautonomia candidate region on 9q31. Genomics. 1999 Jun 15; 58(3):302-9. PMID: 10373328.
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  74. Blumenfeld A, Slaugenhaupt SA, Liebert CB, Temper V, Maayan C, Gill S, Lucente DE, Idelson M, MacCormack K, Monahan MA, Mull J, Leyne M, Mendillo M, Schiripo T, Mishori E, Breakefield X, Axelrod FB, Gusella JF. Precise genetic mapping and haplotype analysis of the familial dysautonomia gene on human chromosome 9q31. Am J Hum Genet. 1999 Apr; 64(4):1110-8. PMID: 10090896; PMCID: PMC1377835.
  75. Chadwick BP, Campbell LJ, Jackson CL, Ozelius L, Slaugenhaupt SA, Stephenson DA, Edwards JH, Wiest J, Povey S. Report and abstracts of the Sixth International Workshop on chromosome 9. Ann Hum Genet. 1999 Mar; 63(Pt 2):101-24. PMID: 10738523.
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  76. Chadwick BP, Helbling LA, Angrist M, Chakravarti A, Gusella JF, Slaugenhaupt SA. Assignment of persephin (PSPN), a human neurotrophic factor, to chromosome 19p13.3 by radiation hybrid mapping and somatic cell hybrid PCR. Cytogenet Cell Genet. 1998; 83(3-4):236-7. PMID: 10072588.
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  77. Povey S, Attwood J, Chadwick B, Frezal J, Haines JL, Knowles M, Kwiatkowski DJ, Olopade OI, Slaugenhaupt S, Spurr NK, Smith M, Steel K, White JA, Pericak-Vance MA. Report on the Fifth International Workshop on Chromosome 9 held at Eynsham, Oxfordshire, UK, September 4-6, 1996. Ann Hum Genet. 1997 May; 61(Pt 3):183-206. PMID: 9250350.
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  78. Eng CM, Slaugenhaupt SA, Blumenfeld A, Axelrod FB, Gusella JF, Desnick RJ. Prenatal diagnosis of familial dysautonomia by analysis of linked CA-repeat polymorphisms on chromosome 9q31-q33. Am J Med Genet. 1995 Nov 20; 59(3):349-55. PMID: 8599360.
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  79. Reppert SM, Godson C, Mahle CD, Weaver DR, Slaugenhaupt SA, Gusella JF. Molecular characterization of a second melatonin receptor expressed in human retina and brain: the Mel1b melatonin receptor. Proc Natl Acad Sci U S A. 1995 Sep 12; 92(19):8734-8. PMID: 7568007; PMCID: PMC41041.
  80. Oddoux C, Reich E, Axelrod F, Blumenfeld A, Maayan C, Slaugenhaupt S, Gusella J, Ostrer H. Prenatal diagnostic testing for familial dysautonomia using linked genetic markers. Prenat Diagn. 1995 Sep; 15(9):817-26. PMID: 8559751.
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  81. Sahin M, Slaugenhaupt SA, Gusella JF, Hockfield S. Expression of PTPH1, a rat protein tyrosine phosphatase, is restricted to the derivatives of a specific diencephalic segment. Proc Natl Acad Sci U S A. 1995 Aug 15; 92(17):7859-63. PMID: 7644504; PMCID: PMC41245.
  82. Slaugenhaupt SA, Roca AL, Liebert CB, Altherr MR, Gusella JF, Reppert SM. Mapping of the gene for the Mel1a-melatonin receptor to human chromosome 4 (MTNR1A) and mouse chromosome 8 (Mtnr1a). Genomics. 1995 May 20; 27(2):355-7. PMID: 7558006.
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  83. Slaugenhaupt SA, Blumenfeld A, Liebert CB, Mull J, Lucente DE, Monahan M, Breakefield XO, Maayan C, Parada L, Axelrod FB, et al. The human gene for neurotrophic tyrosine kinase receptor type 2 (NTRK2) is located on chromosome 9 but is not the familial dysautonomia gene. Genomics. 1995 Feb 10; 25(3):730-2. PMID: 7759111.
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  84. Blumenfeld A, Lucente DE, Trofatter JA, Lerner T, Slaugenhaupt SA, Liebert CB, Monahan M, Haines JL, Gusella JF, Breakefield XO, Parysek LM. Peripherin gene is linked to keratin 18 gene on human chromosome 12. Somat Cell Mol Genet. 1995 Jan; 21(1):83-8. PMID: 7541564.
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  85. Velinov M, Slaugenhaupt SA, Stoilov I, Scott CI, Gusella JF, Tsipouras P. The gene for achondroplasia maps to the telomeric region of chromosome 4p. Nat Genet. 1994 Mar; 6(3):314-7. PMID: 8012397.
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  86. Kwiatkowski DJ, Dib C, Slaugenhaupt SA, Povey S, Gusella JF, Haines JL. An index marker map of chromosome 9 provides strong evidence for positive interference. Am J Hum Genet. 1993 Dec; 53(6):1279-88. PMID: 8250044; PMCID: PMC1682475.
  87. Angrist M, Kauffman E, Slaugenhaupt SA, Matise TC, Puffenberger EG, Washington SS, Lipson A, Cass DT, Reyna T, Weeks DE, et al. A gene for Hirschsprung disease (megacolon) in the pericentromeric region of human chromosome 10. Nat Genet. 1993 Aug; 4(4):351-6. PMID: 8401581.
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  88. McClatchey AI, Cannon SC, Slaugenhaupt SA, Gusella JF. The cloning and expression of a sodium channel beta 1-subunit cDNA from human brain. Hum Mol Genet. 1993 Jun; 2(6):745-9. PMID: 8394762.
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  89. Blumenfeld A, Slaugenhaupt SA, Axelrod FB, Lucente DE, Maayan C, Liebert CB, Ozelius LJ, Trofatter JA, Haines JL, Breakefield XO, et al. Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis. Nat Genet. 1993 Jun; 4(2):160-4. PMID: 8102296.
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  90. Blumenfeld A, Axelrod FB, Trofatter JA, Maayan C, Lucente DE, Slaugenhaupt SA, Liebert CB, Ozelius LJ, Haines JL, Breakefield XO, et al. Exclusion of familial dysautonomia from more than 60% of the genome. J Med Genet. 1993 Jan; 30(1):47-52. PMID: 8093738; PMCID: PMC1016234.
  91. Kwiatkowski DJ, Armour J, Bale AE, Fountain JW, Goudie D, Haines JL, Knowles MA, Pilz A, Slaugenhaupt S, Povey S. Report and abstracts of the Second International Workshop on Human Chromosome 9 Mapping 1993. Cytogenet Cell Genet. 1993; 64(2):93-121. PMID: 8334899.
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  92. Ozelius L, Schuback DE, Stefansson K, Slaugenhaupt S, Gusella JF, Breakefield XO. Dinucleotide repeat polymorphism for the hexabrachion gene (HXB) on chromosome 9q32-34. Hum Mol Genet. 1992 May; 1(2):141. PMID: 1284469.
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  93. Antonarakis SE, Petersen MB, McInnis MG, Adelsberger PA, Schinzel AA, Binkert F, Pangalos C, Raoul O, Slaugenhaupt SA, Hafez M, et al. The meiotic stage of nondisjunction in trisomy 21: determination by using DNA polymorphisms. Am J Hum Genet. 1992 Mar; 50(3):544-50. PMID: 1347192; PMCID: PMC1684265.
  94. McInnis MG, Lutfalla G, Slaugenhaupt S, Petersen MB, Uze G, Chakravarti A, Antonarakis SE. Linkage mapping of highly informative DNA polymorphisms within the human interferon-alpha receptor gene on chromosome 21. Genomics. 1991 Nov; 11(3):573-6. PMID: 1685477.
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  95. Petersen MB, Weber JL, Slaugenhaupt SA, Kwitek AE, McInnis MG, Chakravarti A, Antonarakis SE. Linkage mapping of D21S171 to the distal long arm of human chromosome 21 using a polymorphic (AC)n dinucleotide repeat. Hum Genet. 1991 Aug; 87(4):401-4. PMID: 1879826.
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  96. Lupski JR, de Oca-Luna RM, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI. DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell. 1991 Jul 26; 66(2):219-32. PMID: 1677316.
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  97. Petersen MB, Slaugenhaupt SA, Lewis JG, Warren AC, Chakravarti A, Antonarakis SE. A genetic linkage map of 27 markers on human chromosome 21. Genomics. 1991 Mar; 9(3):407-19. PMID: 1674496.
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  98. Morizot DC, Slaugenhaupt SA, Kallman KD, Chakravarti A. Genetic linkage map of fishes of the genus Xiphophorus (Teleostei: Poeciliidae). Genetics. 1991 Feb; 127(2):399-410. PMID: 2004711; PMCID: PMC1204367.
  99. Patel PI, Garcia C, Montes de Oca-Luna R, Malamut RI, Franco B, Slaugenhaupt S, Chakravarti A, Lupski JR. Isolation of a marker linked to the Charcot-Marie-Tooth disease type IA gene by differential Alu-PCR of human chromosome 17-retaining hybrids. Am J Hum Genet. 1990 Dec; 47(6):926-34. PMID: 1978559; PMCID: PMC1683908.
  100. Lewis JG, Weber JL, Petersen MB, Slaugenhaupt SA, Kwitek A, May PE, Warren AC, Chakravarti A, Antonarakis SE. Linkage mapping of the highly informative DNA marker D21S156 to human chromosome 21 using a polymorphic GT dinucleotide repeat. Genomics. 1990 Oct; 8(2):400-2. PMID: 1979059.
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  101. Neiswanger K, Slaugenhaupt SA, Hughes HB, Frank E, Frankel DR, McCarty MJ, Chakravarti A, Zubenko GS, Kupfer DJ, Kaplan BB. Evidence against close linkage of unipolar affective illness to human chromosome 11p markers HRAS1 and INS and chromosome Xq marker DXS52. Biol Psychiatry. 1990 Jul 01; 28(1):63-72. PMID: 1973904.
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  102. Petersen MB, Economou EP, Slaugenhaupt SA, Chakravarti A, Antonarakis SE. Linkage analysis of the human HMG14 gene on chromosome 21 using a GT dinucleotide repeat as polymorphic marker. Genomics. 1990 May; 7(1):136-8. PMID: 1970797.
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  103. Patel PI, Franco B, Garcia C, Slaugenhaupt SA, Nakamura Y, Ledbetter DH, Chakravarti A, Lupski JR. Genetic mapping of autosomal dominant Charcot-Marie-Tooth disease in a large French-Acadian kindred: identification of new linked markers on chromosome 17. Am J Hum Genet. 1990 Apr; 46(4):801-9. PMID: 2316525; PMCID: PMC1683666.
  104. Chakravarti A, Slaugenhaupt SA, Zubenko GS. Inheritance pattern of platelet membrane fluidity in Alzheimer disease. Am J Hum Genet. 1989 Jun; 44(6):799-805. PMID: 2729275; PMCID: PMC1715670.
  105. Warren AC, Slaugenhaupt SA, Lewis JG, Chakravarti A, Antonarakis SE. A genetic linkage map of 17 markers on human chromosome 21. Genomics. 1989 May; 4(4):579-91. PMID: 2568330.
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  106. Chakravarti A, Majumder PP, Slaugenhaupt SA, Deka R, Warren AC, Surti U, Ferrell RE, Antonarakis SE. Gene-centromere mapping and the study of non-disjunction in autosomal trisomies and ovarian teratomas. Prog Clin Biol Res. 1989; 311:45-79. PMID: 2771999.
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  107. Kittur SD, Bagdon MM, Lubs ML, Phillips JA, Murray JC, Slaugenhaupt SA, Chakravarti A, Adler WH. Linkage analysis of neurofibromatosis type I, using chromosome 17 DNA markers. Am J Hum Genet. 1989 Jan; 44(1):48-50. PMID: 2491782; PMCID: PMC1715469.
  108. Chakravarti A, Slaugenhaupt SA. Methods for studying recombination on chromosomes that undergo nondisjunction. Genomics. 1987 Sep; 1(1):35-42. PMID: 3478296.
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  109. Warren AC, Chakravarti A, Wong C, Slaugenhaupt SA, Halloran SL, Watkins PC, Metaxotou C, Antonarakis SE. Evidence for reduced recombination on the nondisjoined chromosomes 21 in Down syndrome. Science. 1987 Aug 07; 237(4815):652-4. PMID: 2955519.
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  110. Antonarakis SE, Chakravarti A, Warren AC, Slaugenhaupt SA, Wong C, Halloran SL, Metaxotou C. Reduced recombination rate on chromosomes 21 that have undergone nondisjunction. Cold Spring Harb Symp Quant Biol. 1986; 51 Pt 1:185-90. PMID: 3034482.
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