Susan L Cotman

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. pmc Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells
    Yi Cao
    Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America
    PLoS ONE 6:e17118. 2011
  2. pmc Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system
    John F Staropoli
    Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America
    PLoS ONE 7:e38310. 2012
  3. pmc Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum
    Susan L Cotman
    Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, 185 Cambridge St, Boston, MA 02114, USA
    Curr Neurol Neurosci Rep 13:366. 2013
  4. pmc An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation
    John F Staropoli
    Neurogenetics DNA Diagnostic Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA
    BMC Med Genet 13:50. 2012
  5. pmc Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
    Elisa Fossale
    Molecular Neurogenetics Unit of Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital, Charlestown, MA, USA
    BMC Neurosci 5:57. 2004
  6. ncbi request reprint Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis
    Yi Cao
    Molecular Neurogenetics Unit and Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Biol Chem 281:20483-93. 2006
  7. pmc A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system
    John F Staropoli
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA
    Am J Hum Genet 91:202-8. 2012
  8. ncbi request reprint Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth
    Susan L Cotman
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA
    Hum Mol Genet 11:2709-21. 2002
  9. pmc Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
    Hanlin Gao
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA
    Am J Hum Genet 70:324-35. 2002
  10. 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

Collaborators

  • Steven U Walkley
  • Xuebin Qin
  • Leah Rae Donahue
  • Martin Klingenspor
  • Elena Cattaneo
  • Jong Min Lee
  • Thomas Klopstock
  • Wolfgang Wurst
  • Jochen Graw
  • Oliver Puk
  • Elisa Fossale
  • Lillian Garrett
  • Susan A Slaugenhaupt
  • Ildiko Racz
  • Martin Hrabe de Angelis
  • Klaus Ruether
  • Jack Favor
  • John F Staropoli
  • Yi Cao
  • Marcy E MacDonald
  • Katherine B Sims
  • Janice A Espinola
  • Xenia Lojewski
  • Larissa Haliw
  • Scott H Coppel
  • Winnie Xin
  • Rosemary Barone
  • Sunita Biswas
  • Cyntia Curcio-Morelli
  • Hans Scholer
  • STEVEN D SHERIDAN
  • Stephen J Haggarty
  • Martin K Selig
  • Dolan Sondhi
  • Jared Sterneckert
  • Kendrick A Goss
  • Uma Chandrachud
  • Alexander Storch
  • Alexandra M Simas
  • Diane Lucente
  • Sunita Biswas-Legrand
  • Andreas Hermann
  • Anton Petcherski
  • James F Gusella
  • Peter Reinhardt
  • Ronald G Crystal
  • Hanlin Gao
  • Rose Mary Boustany
  • Valerie Gailus-Durner
  • Eric Hill
  • Julia Calzada-Wack
  • Thure Adler
  • Birgit Rathkolb
  • Lore Becker
  • Andreas Zimmer
  • Amel Karaa
  • Sabine M Holter
  • Minxuan Sun
  • Mark J Daly
  • Stephen G Romansky
  • Patricia Da Silva-Buttkus
  • Sylvie Breton
  • Raffi Bekeredjian
  • Naser Elbalalesy
  • Dirk H Busch
  • Frauke Neff
  • Jose E Abdenur
  • Ella Dragileva
  • Helmut Fuchs
  • Anja Schrewe
  • Evan Gale
  • Jan Rozman
  • Jolene Guide
  • Elaine T Lim
  • Vanessa C Wheeler
  • Andrew Kirby
  • Sergej Skosyrski
  • Eckhard Wolf
  • Diane E Brown
  • Daniela S Krause
  • Edith Lopez
  • Hayat Harati
  • Karen B Leydiker
  • Marsha F Browning
  • Bhuvarahamurthy Venugopal
  • Kostantin Dobrenis
  • Florie A Charles
  • Matthew C Micsenyi
  • Ashish C Massey
  • Ana Maria Cuervo

Detail Information

Publications11

  1. pmc Distinct early molecular responses to mutations causing vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar cells
    Yi Cao
    Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America
    PLoS ONE 6:e17118. 2011
    ..Thus, these data support the hypothesis that CLN6 and CLN3 mutations trigger distinct processes that converge on a shared pathway, which is responsible for proper subunit c protein turnover and neuronal cell survival...
  2. pmc Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system
    John F Staropoli
    Molecular Neurogenetics Unit, Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts, United States of America
    PLoS ONE 7:e38310. 2012
    ..These data highlight additional organ systems in which to study CLN3 function, and early phenotypes have been established in homozygous Cln3(Δ) (ex7/8) mice that merit further study for JNCL biomarker development...
  3. pmc Neuronal ceroid lipofuscinosis: impact of recent genetic advances and expansion of the clinicopathologic spectrum
    Susan L Cotman
    Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, 185 Cambridge St, Boston, MA 02114, USA
    Curr Neurol Neurosci Rep 13:366. 2013
    ..This review will discuss these recent advances and the expanded potential for increased awareness and new research that will ultimately lead to effective treatments for NCL and related disorders...
  4. pmc An atypical case of neuronal ceroid lipofuscinosis with co-inheritance of a variably penetrant POLG1 mutation
    John F Staropoli
    Neurogenetics DNA Diagnostic Laboratory, Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA
    BMC Med Genet 13:50. 2012
    ..The clinical heterogeneity of these disorders may shed light on genetic interactors that modify disease onset and progression...
  5. pmc Membrane trafficking and mitochondrial abnormalities precede subunit c deposition in a cerebellar cell model of juvenile neuronal ceroid lipofuscinosis
    Elisa Fossale
    Molecular Neurogenetics Unit of Department of Neurology and Center for Human Genetic Research, Massachusetts General Hospital, Charlestown, MA, USA
    BMC Neurosci 5:57. 2004
    ..We previously generated Cln3Deltaex7/8 knock-in mice, which replicate the common JNCL mutation, express mutant battenin and display JNCL-like pathology...
  6. ncbi request reprint Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis
    Yi Cao
    Molecular Neurogenetics Unit and Center for Human Genetic Research, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    J Biol Chem 281:20483-93. 2006
    ....
  7. pmc A homozygous mutation in KCTD7 links neuronal ceroid lipofuscinosis to the ubiquitin-proteasome system
    John F Staropoli
    Center for Human Genetic Research, Massachusetts General Hospital, Boston, 02114, USA
    Am J Hum Genet 91:202-8. 2012
    ..Whereas KCTD7 mutations have previously been linked to PME without lysosomal storage, this study clearly demonstrates that KCTD7 mutations also cause a rare, infantile-onset NCL subtype designated as CLN14...
  8. ncbi request reprint Cln3(Deltaex7/8) knock-in mice with the common JNCL mutation exhibit progressive neurologic disease that begins before birth
    Susan L Cotman
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA
    Hum Mol Genet 11:2709-21. 2002
    ..Thus, the harmful impact of the common JNCL mutation on the CNS was not well correlated with membrane deposition per se, suggesting instead a specific battenin activity that is essential for the survival of CNS neurons...
  9. pmc Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse
    Hanlin Gao
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown, MA 02129, USA
    Am J Hum Genet 70:324-35. 2002
    ..Thus, the novel approximately 36-kD CLN6-gene product augments an intriguing set of unrelated membrane-spanning proteins, whose deficiency causes NCL in mouse and man...
  10. 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...
  11. doi request reprint Human iPSC models of neuronal ceroid lipofuscinosis capture distinct effects of TPP1 and CLN3 mutations on the endocytic pathway
    Xenia Lojewski
    Center for Human Genetic Research, Massachusetts General Hospital, 185 Cambridge Street, Boston, MA 02114, USA
    Hum Mol Genet 23:2005-22. 2014
    ..This study therefore documents the high value of this powerful new set of tools for improved drug screening and for investigating early mechanisms driving NCL pathogenesis. ..