Susan A Slaugenhaupt

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi request reprint Rescue of a human mRNA splicing defect by the plant cytokinin kinetin
    Susan A Slaugenhaupt
    Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Charlestown, MA 02129, USA
    Hum Mol Genet 13:429-36. 2004
  2. ncbi request reprint The corticotropin-releasing hormone gene and behavioral inhibition in children at risk for panic disorder
    Jordan W Smoller
    Department of Psychiatry, Massachusetts General Hospital, Boston 02114, USA
    Biol Psychiatry 57:1485-92. 2005
  3. ncbi request reprint New locus for autosomal dominant mitral valve prolapse on chromosome 13: clinical insights from genetic studies
    Francesca Nesta
    Department of Medicine, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA
    Circulation 112:2022-30. 2005
  4. pmc A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect
    Matthew M Hims
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Genomics 90:389-96. 2007
  5. pmc Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP
    Yei Tsung Chen
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Mol Cell Biol 29:736-44. 2009
  6. pmc Specific correction of a splice defect in brain by nutritional supplementation
    Ranjit S Shetty
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, 185 Cambridge Street, CPZN 5254, Boston, MA 02114, USA
    Hum Mol Genet 20:4093-101. 2011
  7. doi request reprint Functional multimerization of mucolipin channel proteins
    Cyntia Curcio-Morelli
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    J Cell Physiol 222:328-35. 2010
  8. doi request reprint Macroautophagy is defective in mucolipin-1-deficient mouse neurons
    Cyntia Curcio-Morelli
    Center for Human Genetic Research, Massachusetts General Hospital Harvard Medical School, Boston, MA 02114, USA
    Neurobiol Dis 40:370-7. 2010
  9. ncbi request reprint Identification of the first non-Jewish mutation in familial Dysautonomia
    Maire Leyne
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, USA
    Am J Med Genet A 118:305-8. 2003
  10. ncbi request reprint Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia
    Matthew M Hims
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    J Mol Med (Berl) 85:149-61. 2007

Collaborators

Detail Information

Publications30

  1. ncbi request reprint Rescue of a human mRNA splicing defect by the plant cytokinin kinetin
    Susan A Slaugenhaupt
    Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Charlestown, MA 02129, USA
    Hum Mol Genet 13:429-36. 2004
    ..Further, kinetin should be explored as a treatment for increasing the level of normal IKAP in FD, and for other splicing disorders that may share a similar mechanism...
  2. ncbi request reprint The corticotropin-releasing hormone gene and behavioral inhibition in children at risk for panic disorder
    Jordan W Smoller
    Department of Psychiatry, Massachusetts General Hospital, Boston 02114, USA
    Biol Psychiatry 57:1485-92. 2005
    ..To evaluate this further, we genotyped additional families for this marker and a panel of markers encompassing the CRH locus...
  3. ncbi request reprint New locus for autosomal dominant mitral valve prolapse on chromosome 13: clinical insights from genetic studies
    Francesca Nesta
    Department of Medicine, Harvard Medical School, Massachusetts General Hospital, Boston, MA, USA
    Circulation 112:2022-30. 2005
    ..In the present study, we analyzed a large family segregating MVP, and identified a new locus, MMVP3. This study and others have enabled us to explore mitral valve morphological variations of currently uncertain clinical significance...
  4. pmc A humanized IKBKAP transgenic mouse models a tissue-specific human splicing defect
    Matthew M Hims
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Genomics 90:389-96. 2007
    ..Last, these mice will permit direct studies of tissue-specific splicing and the identification of regulatory factors that play a role in complex gene expression...
  5. pmc Loss of mouse Ikbkap, a subunit of elongator, leads to transcriptional deficits and embryonic lethality that can be rescued by human IKBKAP
    Yei Tsung Chen
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    Mol Cell Biol 29:736-44. 2009
    ..For the first time, we demonstrate that IKAP is crucial for both vascular and neural development during embryogenesis and that protein function is conserved between mouse and human...
  6. pmc Specific correction of a splice defect in brain by nutritional supplementation
    Ranjit S Shetty
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, 185 Cambridge Street, CPZN 5254, Boston, MA 02114, USA
    Hum Mol Genet 20:4093-101. 2011
    ....
  7. doi request reprint Functional multimerization of mucolipin channel proteins
    Cyntia Curcio-Morelli
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA
    J Cell Physiol 222:328-35. 2010
    ..Our data shows for the first time that TRPMLs form distinct functional channel complexes. Homo- and hetero-multimerization of TRPMLs may modulate channel function and biophysical properties, thereby increasing TRPML functional diversity...
  8. doi request reprint Macroautophagy is defective in mucolipin-1-deficient mouse neurons
    Cyntia Curcio-Morelli
    Center for Human Genetic Research, Massachusetts General Hospital Harvard Medical School, Boston, MA 02114, USA
    Neurobiol Dis 40:370-7. 2010
    ..This study describes, for the first time, a defect in macroautophagy in mucolipin-1-deficient neurons, which corroborates recent findings in MLIV fibroblasts and provides new insight into the neuronal pathogenesis of this disease...
  9. ncbi request reprint Identification of the first non-Jewish mutation in familial Dysautonomia
    Maire Leyne
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, USA
    Am J Med Genet A 118:305-8. 2003
    ..In light of this fact, the diagnostic criteria for FD must be expanded. Furthermore, in order to ensure carrier identification in all ethnicities, this mutation must now be considered when screening for FD...
  10. ncbi request reprint Therapeutic potential and mechanism of kinetin as a treatment for the human splicing disease familial dysautonomia
    Matthew M Hims
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    J Mol Med (Berl) 85:149-61. 2007
    ..Lastly, we highlight the potential of kinetin for the treatment of other human splicing disorders by showing correction of a splicing defect in neurofibromatosis...
  11. ncbi request reprint Familial dysautonomia
    Susan A Slaugenhaupt
    Harvard Institute of Human Genetics, Harvard Medical School, Boston, Massachusetts 02115, USA
    Curr Opin Genet Dev 12:307-11. 2002
    ..IKAP, the IKBKAP-encoded protein, is a member of the recently identified human Elongator complex. The major FD mutation is a splice mutation that results in aberrant tissue-specific mRNA splicing...
  12. ncbi request reprint The molecular basis of mucolipidosis type IV
    Susan A Slaugenhaupt
    Harvard Institute of Human Genetics, Harvard Medical School, Boston, MA 02115, USA
    Curr Mol Med 2:445-50. 2002
    ..elegans mucolipin-1 homolog allow us to begin to speculate about the role of mucolipin-1 in diverse cellular processes...
  13. ncbi request reprint Genetics of familial dysautonomia. Tissue-specific expression of a splicing mutation in the IKBKAP gene
    Susan A Slaugenhaupt
    Harvard Institute of Human Genetics, Harvard Medical School, Boston, MA 02115, USA
    Clin Auton Res 12:I15-9. 2002
  14. ncbi request reprint Molecular genetics of mitral valve prolapse
    Robert A Levine
    Cardiac Ultrasound Laboratory, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    Curr Opin Cardiol 22:171-5. 2007
    ..It is associated with important mitral regurgitation requiring surgical repair and other clinical complications. Genetic studies can provide clues to mechanism and therapy...
  15. doi request reprint Chaperone-mediated autophagy is defective in mucolipidosis type IV
    Bhuvarahamurthy Venugopal
    Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114, USA
    J Cell Physiol 219:344-53. 2009
    ..It is also possible that TRPML1 channel activity may be required for CMA. Understanding the role of TRPML1 in CMA will undoubtedly help to characterize the pathogenesis of MLIV...
  16. ncbi request reprint Association of a genetic marker at the corticotropin-releasing hormone locus with behavioral inhibition
    Jordan W Smoller
    Department of Psychiatry, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Biol Psychiatry 54:1376-81. 2003
    ..Transgenic mice overexpressing CRH exhibit BI-like behaviors, implicating this gene in the development of the phenotype...
  17. ncbi request reprint The GPR54 gene as a regulator of puberty
    Stephanie B Seminara
    Reproductive Endocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA
    N Engl J Med 349:1614-27. 2003
    ..We conducted studies in humans and mice to identify the genetic factors that determine the onset of puberty...
  18. pmc Neurologic, gastric, and opthalmologic pathologies in a murine model of mucolipidosis type IV
    Bhuvarahamurthy Venugopal
    Center for Human Genetic Research, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Am J Hum Genet 81:1070-83. 2007
    ..In addition, this model provides an invaluable resource for testing treatment strategies and potential therapies aimed at preventing or ameliorating the abnormal lysosomal storage in this devastating neurological disorder...
  19. pmc A locus for autosomal dominant mitral valve prolapse on chromosome 11p15.4
    Lisa A Freed
    The Cardiology Division, Department of Medicine, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA
    Am J Hum Genet 72:1551-9. 2003
    ..The discovery of genes involved in the pathogenesis of this common disease is crucial to understanding the marked variability in disease expression and mortality seen in MVP...
  20. ncbi request reprint IKBKAP mRNA in peripheral blood leukocytes: a molecular marker of gene expression and splicing in familial dysautonomia
    Gabrielle Gold-von Simson
    Department of Pediatrics, New York University School of Medicine, New York, New York 10016, USA
    Pediatr Res 63:186-90. 2008
    ..Levels of IKBKAP mRNA in peripheral blood leukocytes can be used to assess molecular response to therapies aimed at enhancing exon 20 inclusion and increasing cellular levels of ELP1/IKAP...
  21. pmc Tissue-specific reduction in splicing efficiency of IKBKAP due to the major mutation associated with familial dysautonomia
    Math P Cuajungco
    Harvard Institute of Human Genetics, Harvard Medical School, Boston, MA, USA
    Am J Hum Genet 72:749-58. 2003
    ..Therefore, exploration of methods to increase the WT:MU IKBKAP transcript ratio in the nervous system offers a promising approach for developing an effective therapy for patients with FD...
  22. pmc Caenorhabditis elegans functional orthologue of human protein h-mucolipin-1 is required for lysosome biogenesis
    Sebastian Treusch
    Department of Molecular and Cellular Biology, University of Arizona, Tucson, AZ 85721, USA
    Proc Natl Acad Sci U S A 101:4483-8. 2004
    ..Finally, we propose a model that relates the lysosome biogenesis defect in the absence of CUP-5/h-mucolipin-1 to cellular phenotypes in worms and in humans...
  23. ncbi request reprint Functional links between mucolipin-1 and Ca2+-dependent membrane trafficking in mucolipidosis IV
    Janice M LaPlante
    Division of Endocrinology, Diabetes and Hypertension and Membrane Biology Program, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, MA 02115, USA
    Biochem Biophys Res Commun 322:1384-91. 2004
    ....
  24. ncbi request reprint Weak definition of IKBKAP exon 20 leads to aberrant splicing in familial dysautonomia
    El Cherif Ibrahim
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Hum Mutat 28:41-53. 2007
    ....
  25. ncbi request reprint Transcription impairment and cell migration defects in elongator-depleted cells: implication for familial dysautonomia
    Pierre Close
    Laboratory of Medical Chemistry and Human Genetics, Center for Biomedical Integrative Genoproteomics, University of Liege, Belgium
    Mol Cell 22:521-31. 2006
    ..These results indicate that defects in Elongator function affect transcriptional elongation of several genes and that the ensuing cell motility deficiencies may underlie the neuropathology of FD patients...
  26. ncbi request reprint Identification and characterization of the single channel function of human mucolipin-1 implicated in mucolipidosis type IV, a disorder affecting the lysosomal pathway
    Janice M LaPlante
    Division of Endocrinology, Diabetes and Hypertension and Membrane Biology Program, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, 221 Longwood Ave, Boston, MA 02115, USA
    FEBS Lett 532:183-7. 2002
    ..With its Ca(2+) permeability and modulation by [Ca(2+)], MLN1 could play a major role in Ca(2+) transport regulating lysosomal exocytosis and potentially other phenomena related to the trafficking of late endosomes and lysosomes...
  27. ncbi request reprint Enzymatic mechanisms in corneal ulceration with specific reference to familial dysautonomia: potential for genetic approaches
    M Elizabeth Fini
    Vision Research Laboratories, New England Eye Center, Tufts University School of Medicine and Tufts Center for Vision Research, Boston, Massachusetts, USA
    Adv Exp Med Biol 506:629-39. 2002
  28. ncbi request reprint Lysosomal exocytosis is impaired in mucolipidosis type IV
    Janice M LaPlante
    Division of Endocrinology, Diabetes and Hypertension and Membrane Biology Program, Department of Medicine, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Mol Genet Metab 89:339-48. 2006
    ..Further, we show that transfection with wild type MLN1 cDNA rescues exocytosis, suggesting the possibility of treatments based on the restoration of this crucial cellular function...
  29. ncbi request reprint Of splice and men: what does the distribution of IKAP mRNA in the rat tell us about the pathogenesis of familial dysautonomia?
    Eva Mezey
    Basic Neuroscience Program, NINDS, NIH, Building 36, Room 3D 06, Bethesda, MD 20892, USA
    Brain Res 983:209-14. 2003
    ..The mRNA is widely distributed. Highest levels are in the nervous system, but substantial amounts are also present in peripheral organs...
  30. ncbi request reprint Fludrocortisone in patients with familial dysautonomia--assessing effect on clinical parameters and gene expression
    Felicia B Axelrod
    Dept of Pediatrics, New York University School of Medicine, New York, NY, USA
    Clin Auton Res 15:284-91. 2005
    ..Our data suggest that fludrocortisone has clinical efficacy despite negative in vitro observations on gene expression...