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profileSusan L. Cotman, Ph.D.

TitleAssistant Professor of Neurology
InstitutionMassachusetts General Hospital
DepartmentNeurology
AddressMassachusetts General Hospital
CHGR, Simches Research Center, Rm 5622
185 Cambridge St
Boston MA 02114
Phone617/726-9180
Fax617/726-5736
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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. Kohan R, Mole SE, Cotman SL. Special issue: Molecular basis of NCL. Biochim Biophys Acta. 2015 Oct; 1852(10 Pt B):2235-6. PMID: 26122823.
    View in: PubMed
  2. Mole SE, Cotman SL. Genetics of the neuronal ceroid lipofuscinoses (Batten disease). Biochim Biophys Acta. 2015 Oct; 1852(10 Pt B):2237-41. PMID: 26026925; PMCID: PMC4567481 [Available on 10/01/16].
  3. Chandrachud U, Walker MW, Simas AM, Heetveld S, Petcherski A, Klein M, Oh H, Wolf P, Zhao WN, Norton S, Haggarty SJ, Lloyd-Evans E, Cotman SL. Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function. J Biol Chem. 2015 Jun 5; 290(23):14361-80. PMID: 25878248; PMCID: PMC4505505 [Available on 06/05/16].
  4. Cotman SL, Mole SE, Kohan R. Future perspectives: Moving towards NCL treatments. Biochim Biophys Acta. 2015 Oct; 1852(10 Pt B):2336-8. PMID: 25857620; PMCID: PMC4567439 [Available on 10/01/16].
  5. Huber RJ, Myre MA, Cotman SL. Loss of Cln3 function in the social amoeba Dictyostelium discoideum causes pleiotropic effects that are rescued by human CLN3. PLoS One. 2014; 9(10):e110544. PMID: 25330233; PMCID: PMC4201555.
  6. Sondhi D, Scott EC, Chen A, Hackett NR, Wong AM, Kubiak A, Nelvagal HR, Pearse Y, Cotman SL, Cooper JD, Crystal RG. Partial correction of the CNS lysosomal storage defect in a mouse model of juvenile neuronal ceroid lipofuscinosis by neonatal CNS administration of an adeno-associated virus serotype rh.10 vector expressing the human CLN3 gene. Hum Gene Ther. 2014 Mar; 25(3):223-39. PMID: 24372003; PMCID: PMC3955974.
  7. Lojewski X, Staropoli JF, Biswas-Legrand S, Simas AM, Haliw L, Selig MK, Coppel SH, Goss KA, Petcherski A, Chandrachud U, Sheridan SD, Lucente D, Sims KB, Gusella JF, Sondhi D, Crystal RG, Reinhardt P, Sterneckert J, Schöler H, Haggarty SJ, Storch A, Hermann A, Cotman SL. Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway. Hum Mol Genet. 2014 Apr 15; 23(8):2005-22. PMID: 24271013; PMCID: PMC3959814.
  8. Hölter SM, Stromberg M, Kovalenko M, Garrett L, Glasl L, Lopez E, Guide J, Götz A, Hans W, Becker L, Rathkolb B, Rozman J, Schrewed A, Klingenspor M, Klopstock T, Schulz H, Wolf E, Wursta W, Gillis T, Wakimoto H, Seidman J, MacDonald ME, Cotman S, Gailus-Durner V, Fuchs H, de Angelis MH, Lee JM, Wheeler VC. A broad phenotypic screen identifies novel phenotypes driven by a single mutant allele in Huntington's disease CAG knock-in mice. PLoS One. 2013; 8(11):e80923. PMID: 24278347; PMCID: PMC3838378.
  9. Cotman SL, Karaa A, Staropoli JF, Sims KB. Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum. Curr Neurol Neurosci Rep. 2013 Aug; 13(8):366. PMID: 23775425; PMCID: PMC3774306.
  10. Staropoli JF, Karaa A, Lim ET, Kirby A, Elbalalesy N, Romansky SG, Leydiker KB, Coppel SH, Barone R, Xin W, MacDonald ME, Abdenur JE, Daly MJ, Sims KB, Cotman SL. A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system. Am J Hum Genet. 2012 Jul 13; 91(1):202-8. PMID: 22748208; PMCID: PMC3397260.
  11. Staropoli JF, Xin W, Barone R, Cotman SL, Sims KB. An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation. BMC Med Genet. 2012; 13:50. PMID: 22727047; PMCID: PMC3443422.
  12. Staropoli JF, Haliw L, Biswas S, Garrett L, Hölter SM, Becker L, Skosyrski S, Da Silva-Buttkus P, Calzada-Wack J, Neff F, Rathkolb B, Rozman J, Schrewe A, Adler T, Puk O, Sun M, Favor J, Racz I, Bekeredjian R, Busch DH, Graw J, Klingenspor M, Klopstock T, Wolf E, Wurst W, Zimmer A, Lopez E, Harati H, Hill E, Krause DS, Guide J, Dragileva E, Gale E, Wheeler VC, Boustany RM, Brown DE, Breton S, Ruether K, Gailus-Durner V, Fuchs H, de Angelis MH, Cotman SL. Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system. PLoS One. 2012; 7(6):e38310. PMID: 22701626; PMCID: PMC3368842.
  13. Lebrun AH, Moll-Khosrawi P, Pohl S, Makrypidi G, Storch S, Kilian D, Streichert T, Otto B, Mole SE, Ullrich K, Cotman S, Kohlschütter A, Braulke T, Schulz A. Analysis of potential biomarkers and modifier genes affecting the clinical course of CLN3 disease. Mol Med. 2011; 17(11-12):1253-61. PMID: 21863212; PMCID: PMC3321816.
  14. Cao Y, Staropoli JF, Biswas S, Espinola JA, MacDonald ME, Lee JM, Cotman SL. Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells. PLoS One. 2011; 6(2):e17118. PMID: 21359198; PMCID: PMC3040763.
  15. Chang JW, Choi H, Cotman SL, Jung YK. Lithium rescues the impaired autophagy process in CbCln3(?ex7/8/?ex7/8) cerebellar cells and reduces neuronal vulnerability to cell death via IMPase inhibition. J Neurochem. 2011 Feb; 116(4):659-68. PMID: 21175620; PMCID: PMC4517618.
  16. 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.
  17. Song JW, Misgeld T, Kang H, Knecht S, Lu J, Cao Y, Cotman SL, Bishop DL, Lichtman JW. Lysosomal activity associated with developmental axon pruning. J Neurosci. 2008 Sep 3; 28(36):8993-9001. PMID: 18768693; PMCID: PMC2693713.
  18. Herrmann P, Druckrey-Fiskaaen C, Kouznetsova E, Heinitz K, Bigl M, Cotman SL, Schliebs R. Developmental impairments of select neurotransmitter systems in brains of Cln3(Deltaex7/8) knock-in mice, an animal model of juvenile neuronal ceroid lipofuscinosis. J Neurosci Res. 2008 Jun; 86(8):1857-70. PMID: 18265413.
    View in: PubMed
  19. Cao Y, Espinola JA, Fossale E, Massey AC, Cuervo AM, MacDonald ME, Cotman SL. Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. J Biol Chem. 2006 Jul 21; 281(29):20483-93. PMID: 16714284.
    View in: PubMed
  20. Pontikis CC, Cotman SL, MacDonald ME, Cooper JD. Thalamocortical neuron loss and localized astrocytosis in the Cln3Deltaex7/8 knock-in mouse model of Batten disease. Neurobiol Dis. 2005 Dec; 20(3):823-36. PMID: 16006136.
    View in: PubMed
  21. Fossale E, Wolf P, Espinola JA, Lubicz-Nawrocka T, Teed AM, Gao H, Rigamonti D, Cattaneo E, MacDonald ME, Cotman SL. Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis. BMC Neurosci. 2004 Dec 10; 5:57. PMID: 15588329; PMCID: PMC539297.
  22. Kim MJ, Cotman SL, Halfter W, Cole GJ. The heparan sulfate proteoglycan agrin modulates neurite outgrowth mediated by FGF-2. J Neurobiol. 2003 Jun; 55(3):261-77. PMID: 12717697.
    View in: PubMed
  23. Cotman SL, Vrbanac V, Lebel LA, Lee RL, Johnson KA, Donahue LR, Teed AM, Antonellis K, Bronson RT, Lerner TJ, MacDonald ME. Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth. Hum Mol Genet. 2002 Oct 15; 11(22):2709-21. PMID: 12374761.
    View in: PubMed
  24. Gao H, Boustany RM, Espinola JA, Cotman SL, Srinidhi L, Antonellis KA, Gillis T, Qin X, Liu S, Donahue LR, Bronson RT, Faust JR, Stout D, Haines JL, Lerner TJ, MacDonald ME. Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse. Am J Hum Genet. 2002 Feb; 70(2):324-35. PMID: 11791207; PMCID: PMC384912.
  25. Cotman SL, Halfter W, Cole GJ. Agrin binds to beta-amyloid (Abeta), accelerates abeta fibril formation, and is localized to Abeta deposits in Alzheimer's disease brain. Mol Cell Neurosci. 2000 Feb; 15(2):183-98. PMID: 10673326.
    View in: PubMed
  26. Cotman SL, Halfter W, Cole GJ. Identification of extracellular matrix ligands for the heparan sulfate proteoglycan agrin. Exp Cell Res. 1999 May 25; 249(1):54-64. PMID: 10328953.
    View in: PubMed
  27. Masters JN, Cotman SL, Osterburg HH, Nichols NR, Finch CE. Modulation of a novel RNA in brain neurons by glucocorticoid and mineralocorticoid receptors. Neuroendocrinology. 1996 Jan; 63(1):28-38. PMID: 8839352.
    View in: PubMed
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