Susan L Cotman

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. pmc Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function
    Uma Chandrachud
    From the Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114 and
    J Biol Chem 290:14361-80. 2015
  8. 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
  9. pmc 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
  10. 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

Collaborators

Detail Information

Publications12

  1. 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...
  2. 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...
  3. 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...
  4. 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
    ....
  5. 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...
  6. 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...
  7. pmc Unbiased Cell-based Screening in a Neuronal Cell Model of Batten Disease Highlights an Interaction between Ca2+ Homeostasis, Autophagy, and CLN3 Protein Function
    Uma Chandrachud
    From the Center for Human Genetic Research, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts 02114 and
    J Biol Chem 290:14361-80. 2015
    ..These results further support an important role for the CLN3 protein in intracellular Ca(2+) handling and in autophagic pathway flux and establish a powerful new platform for therapeutic screening. ..
  8. 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...
  9. pmc 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. ..
  10. 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...
  11. pmc 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...
  12. 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...