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. 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
  5. 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
  6. 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

Collaborators

  • Klaus Ruether
  • Jack Favor
  • Oliver Puk
  • John F Staropoli
  • Marcy E MacDonald
  • Rosemary Barone
  • Winnie Xin
  • Katherine B Sims
  • Sunita Biswas
  • Yi Cao
  • Janice A Espinola
  • Elisa Fossale
  • Julia Calzada-Wack
  • Thure Adler
  • Martin Klingenspor
  • Edith Lopez
  • Mark J Daly
  • Stephen G Romansky
  • Lillian Garrett
  • Martin Hrabe de Angelis
  • Ella Dragileva
  • Andrew Kirby
  • Sergej Skosyrski
  • Jolene Guide
  • Ildiko Racz
  • Birgit Rathkolb
  • Elaine T Lim
  • Lore Becker
  • Helmut Fuchs
  • Patricia Da Silva-Buttkus
  • Sylvie Breton
  • Rose Mary Boustany
  • Hayat Harati
  • Eckhard Wolf
  • Anja Schrewe
  • Evan Gale
  • Diane E Brown
  • Raffi Bekeredjian
  • Andreas Zimmer
  • Amel Karaa
  • Naser Elbalalesy
  • Valerie Gailus-Durner
  • Vanessa C Wheeler
  • Dirk H Busch
  • Sabine M Holter
  • Daniela S Krause
  • Eric Hill
  • Scott H Coppel
  • Jan Rozman
  • Thomas Klopstock
  • Frauke Neff
  • Jose E Abdenur
  • Karen B Leydiker
  • Jochen Graw
  • Minxuan Sun
  • Wolfgang Wurst
  • Larissa Haliw
  • Jong Min Lee
  • Allison M Teed
  • Pavlina Wolf
  • Elena Cattaneo
  • Tanya Lubicz-Nawrocka
  • Hanlin Gao
  • Dorotea Rigamonti

Detail Information

Publications6

  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. 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...
  5. 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...
  6. 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...