L J Ozelius

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi request reprint The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    L J Ozelius
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, USA
    Nat Genet 17:40-8. 1997
  2. ncbi request reprint The TOR1A (DYT1) gene family and its role in early onset torsion dystonia
    L J Ozelius
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Genomics 62:377-84. 1999
  3. ncbi request reprint The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family
    L J Ozelius
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA
    Adv Neurol 78:93-105. 1998
  4. ncbi request reprint Expression of the early-onset torsion dystonia gene (DYT1) in human brain
    S J Augood
    Neurology Service, Massachusetts General Hospital, and Harvard Medical School, Boston 02114, USA
    Ann Neurol 43:669-73. 1998
  5. pmc Association of a missense change in the D2 dopamine receptor with myoclonus dystonia
    C Klein
    Molecular Neurogenetics Unit, Neurology Service, Massachusetts General Hospital and Department of Neurology, Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 96:5173-6. 1999
  6. ncbi request reprint Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells
    J Hewett
    Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Hum Mol Genet 9:1403-13. 2000
  7. ncbi request reprint Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis
    A Blumenfeld
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston 02129
    Nat Genet 4:160-4. 1993
  8. ncbi request reprint [Genetics of dystonia]
    C Klein
    Neurology Department, Massachusetts General Hospital, Boston, USA
    Nervenarzt 71:431-41. 2000
  9. ncbi request reprint Increased risk for recurrent major depression in DYT1 dystonia mutation carriers
    G A Heiman
    Department of Epidemiology of Joseph L Mailman School of Public Health, Columbia University, New York 10032, USA
    Neurology 63:631-7. 2004
  10. ncbi request reprint Mutations in DYT1: extension of the phenotypic and mutational spectrum
    K Kabakci
    Department of Neurology, University of Lubeck, Germany
    Neurology 62:395-400. 2004

Collaborators

Detail Information

Publications23

  1. ncbi request reprint The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein
    L J Ozelius
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, USA
    Nat Genet 17:40-8. 1997
    ..This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases...
  2. ncbi request reprint The TOR1A (DYT1) gene family and its role in early onset torsion dystonia
    L J Ozelius
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA
    Genomics 62:377-84. 1999
    ..Proteins encoded by this gene family share functional domains with the AAA/HSP/Clp-ATPase superfamily of chaperone-like proteins, but appear to represent a distinct evolutionary branch...
  3. ncbi request reprint The gene (DYT1) for early-onset torsion dystonia encodes a novel protein related to the Clp protease/heat shock family
    L J Ozelius
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Charlestown 02129, USA
    Adv Neurol 78:93-105. 1998
  4. ncbi request reprint Expression of the early-onset torsion dystonia gene (DYT1) in human brain
    S J Augood
    Neurology Service, Massachusetts General Hospital, and Harvard Medical School, Boston 02114, USA
    Ann Neurol 43:669-73. 1998
    ....
  5. pmc Association of a missense change in the D2 dopamine receptor with myoclonus dystonia
    C Klein
    Molecular Neurogenetics Unit, Neurology Service, Massachusetts General Hospital and Department of Neurology, Harvard Medical School, Boston, MA 02114, USA
    Proc Natl Acad Sci U S A 96:5173-6. 1999
    ..Our finding provides evidence for the involvement of DRD2 in a disorder of the central nervous system and should lead to further insight into the function of the dopaminergic system in dystonia and other movement and mood disorders...
  6. ncbi request reprint Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells
    J Hewett
    Molecular Neurogenetics Unit, Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114, USA
    Hum Mol Genet 9:1403-13. 2000
    ..If disrupted processing of the mutant protein leads to its accumulation in multilayer membranous structures in vivo, these may interfere with membrane trafficking in neurons...
  7. ncbi request reprint Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis
    A Blumenfeld
    Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston 02129
    Nat Genet 4:160-4. 1993
    ..f. p < 0.0001). D9S53 and D9S105 represent the closest flanking markers for the disease gene. This localization will permit prenatal diagnosis of DYS in affected families and aid the isolation of the disease gene...
  8. ncbi request reprint [Genetics of dystonia]
    C Klein
    Neurology Department, Massachusetts General Hospital, Boston, USA
    Nervenarzt 71:431-41. 2000
    ....
  9. ncbi request reprint Increased risk for recurrent major depression in DYT1 dystonia mutation carriers
    G A Heiman
    Department of Epidemiology of Joseph L Mailman School of Public Health, Columbia University, New York 10032, USA
    Neurology 63:631-7. 2004
    ..This comorbidity could be a reaction to a chronic debilitating disorder or expression of a predisposing gene. The authors took advantage of the identification of a gene for dystonia, DYT1, to test these alternative explanations...
  10. ncbi request reprint Mutations in DYT1: extension of the phenotypic and mutational spectrum
    K Kabakci
    Department of Neurology, University of Lubeck, Germany
    Neurology 62:395-400. 2004
    ..Exon rearrangements are a common mutation type in other genes and have not yet been tested for in DYT1. Several lines of evidence suggest a relationship of the DYT1 gene with Parkinson disease (PD)...
  11. ncbi request reprint High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening
    J Hagenah
    Department of Neurology, University of Lubeck, Lubeck, Germany
    Neurology 64:908-11. 2005
    ..The authors attribute this high mutation rate to rigorous inclusion criteria and comprehensive mutational analysis...
  12. ncbi request reprint Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia
    M C F Gerrits
    Department of Neurology, Academic Medical Centre, University of Amsterdam, The Netherlands
    Neurology 66:759-61. 2006
    ..Positive family history and truncal myoclonus were independent prognostic factors. Early disease onset, onset with both myoclonus and dystonia, and axial dystonia were detected significantly more often in the mutation carriers...
  13. ncbi request reprint DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease
    K Hedrich
    Department of Human Genetics, University of Lubeck, Germany
    Neurology 62:389-94. 2004
    ..DJ-1 (PARK7) was recently reported as a second gene associated with recessively inherited PD with a homozygous exon deletion and a homozygous point mutation in two families...
  14. pmc A close association of torsinA and alpha-synuclein in Lewy bodies: a fluorescence resonance energy transfer study
    N Sharma
    Department of Neurology, Alzheimer s Disease Research Unit, and the Department of Neurology, Molecular Neurogenetics Unit, Massachusetts General Hospital East, Charlestown, Massachusetts Albert Einstein College of Medicine, Bronx, New York
    Am J Pathol 159:339-44. 2001
    ..Using sensitive fluorescent resonance energy transfer (FRET) techniques, we find evidence of a close association between torsinA and alpha-synuclein in Lewy bodies...
  15. ncbi request reprint Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism
    J C Leung
    Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA
    Neurogenetics 3:133-43. 2001
    ..This 18-bp deletion is the first additional mutation, beyond the GAG-deletion (Glu302/303del), to be found in the TOR1A gene, and is associated with a distinct type of early onset dystonia...
  16. ncbi request reprint The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism
    K Hedrich
    Department of Neurology, Medical University of Lubeck, Ratzeburger Allee 160, 23538 Lubeck, Germany
    Hum Mol Genet 10:1649-56. 2001
    ..Furthermore, our method of quantitative PCR is easily applicable to any other gene to be screened for deletions or duplications of whole exons...
  17. ncbi request reprint Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31
    T G Nygaard
    Department of Neurology, East Orange Veteran s Administration Medical Center, NJ, USA
    Ann Neurol 46:794-8. 1999
    ..The disorder may be familial with apparent autosomal dominant inheritance. We report a large kindred with essential familial myoclonus-dystonia and map a locus for the disorder to a 28-cM region of chromosome 7q21-q31...
  18. ncbi request reprint Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers
    C W Hess
    Department of Neurology, PACC, Beth Israel Medical Center, Suite 5J, 10 Union Square East, New York, NY 10003, USA
    Neurology 68:522-4. 2007
    ....
  19. ncbi request reprint Rapid-onset dystonia-parkinsonism: linkage to chromosome 19q13
    P L Kramer
    Department of Neurology, Oregon Health Sciences University, Portland 97201, USA
    Ann Neurol 46:176-82. 1999
    ..Identification of the genetic defect in RDP holds promise for understanding the underlying disease processes of both of these more common diseases...
  20. ncbi request reprint The parkin gene is not involved in late-onset Parkinson's disease
    M Kann
    Neurology 58:835; author reply 835. 2002
  21. pmc Genetic heterogeneity in ten families with myoclonus-dystonia
    B Schule
    Department of Neurology, University of Lubeck, Germany
    J Neurol Neurosurg Psychiatry 75:1181-5. 2004
    ..Furthermore, single variants in the dopamine D2 receptor (DRD2) and DYT1 genes were found in combination with SGCE mutations in two M-D families, and another M-D locus was recently mapped to chromosome 18p11 in one family...
  22. ncbi request reprint Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations
    K Hedrich
    Department of Neurology, University of Lubeck, Germany
    Neurology 62:1229-31. 2004
  23. doi request reprint Myoclonus-dystonia: significance of large SGCE deletions
    A Grunewald
    Department of Neurology, Lübeck University, Lubeck, Germany
    Hum Mutat 29:331-2. 2008
    ..In conclusion, a rigorous clinical preselection of patients and careful accounting for non-motor signs should precede mutational tests. Gene dosage studies should be included in routine SGCE genetic testing...