Adrian M Isaacs

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi request reprint Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice
    Shabnam Ghazi-Noori
    MRC Prion Unit, UCL Institute of Neurology, London WC1N 3BG, UK
    Brain 135:819-32. 2012
  2. pmc C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
    Sarah Mizielinska
    Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Acta Neuropathol 126:845-57. 2013
  3. pmc Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations
    Hazel Urwin
    MRC Prion Unit, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Hum Mol Genet 19:2228-38. 2010
  4. pmc Frontotemporal dementia caused by CHMP2B mutations
    A M Isaacs
    Department of Neurodegenerative Disease, VCL Institute of Neurology, Queen Square, London, UK
    Curr Alzheimer Res 8:246-51. 2011
  5. pmc Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
    Pietro Fratta
    Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Acta Neuropathol 126:401-9. 2013
  6. pmc Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population
    Jon Beck
    Medical Research Council Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London, UK
    Am J Hum Genet 92:345-53. 2013
  7. ncbi request reprint RANTing about C9orf72
    Tammaryn Lashley
    Reta Lila Weston Laboratories and Department of Molecular Neuroscience, University College London Institute of Neurology, London WC1N 3BG, UK
    Neuron 77:597-8. 2013
  8. pmc Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration
    Jonathan D Rohrer
    Dementia Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Brain 134:2565-81. 2011
  9. pmc A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies
    Tammaryn Lashley
    Queen Square Brain Bank, Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Brain 134:2548-64. 2011
  10. ncbi request reprint The role of ESCRT proteins in fusion events involving lysosomes, endosomes and autophagosomes
    Daniel Metcalf
    Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Biochem Soc Trans 38:1469-73. 2010

Collaborators

Detail Information

Publications13

  1. ncbi request reprint Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice
    Shabnam Ghazi-Noori
    MRC Prion Unit, UCL Institute of Neurology, London WC1N 3BG, UK
    Brain 135:819-32. 2012
    ..These data describe the first mouse model of dementia caused by CHMP2B mutation and provide new insights into the mechanisms of CHMP2B-induced neurodegeneration...
  2. pmc C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci
    Sarah Mizielinska
    Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Acta Neuropathol 126:845-57. 2013
    ..These data establish that sense and antisense C9orf72 repeat RNA foci are a consistent and specific feature of C9FTLD, providing new insight into the pathogenesis of C9FTLD...
  3. pmc Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations
    Hazel Urwin
    MRC Prion Unit, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Hum Mol Genet 19:2228-38. 2010
    ..The fusion of endosomes with lysosomes is required for neuronal function and the data presented therefore suggest a pathogenic mechanism for FTD caused by CHMP2B mutations...
  4. pmc Frontotemporal dementia caused by CHMP2B mutations
    A M Isaacs
    Department of Neurodegenerative Disease, VCL Institute of Neurology, Queen Square, London, UK
    Curr Alzheimer Res 8:246-51. 2011
    ..Finally, we collate the current data on CHMP2B missense mutations, which have been reported in FTD and motor neuron disease...
  5. pmc Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia
    Pietro Fratta
    Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Acta Neuropathol 126:401-9. 2013
    ..Our findings have implications for genetic counselling, highlighting the need to use genetic tests that distinguish C9orf72 homozygosity. ..
  6. pmc Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population
    Jon Beck
    Medical Research Council Prion Unit, Department of Neurodegenerative Disease, University College London Institute of Neurology, Queen Square, London, UK
    Am J Hum Genet 92:345-53. 2013
    ..C9orf72-related disease might mimic several neurodegenerative disorders and, with potentially 90,000 carriers in the United Kingdom, is more common than previously realized...
  7. ncbi request reprint RANTing about C9orf72
    Tammaryn Lashley
    Reta Lila Weston Laboratories and Department of Molecular Neuroscience, University College London Institute of Neurology, London WC1N 3BG, UK
    Neuron 77:597-8. 2013
    ..In this issue of Neuron, Ash et al. (2013) show that despite being noncoding the repeats are translated, leading to widespread neuronal aggregates of the translated proteins...
  8. pmc Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration
    Jonathan D Rohrer
    Dementia Research Centre, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Brain 134:2565-81. 2011
    ....
  9. pmc A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies
    Tammaryn Lashley
    Queen Square Brain Bank, Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Brain 134:2548-64. 2011
    ..The co-existence of fused in sarcoma-positive inclusions in both motor neurons and extramotor cerebral structures is a characteristic finding in sporadic fused in sarcoma proteinopathies, indicating a multisystem disorder...
  10. ncbi request reprint The role of ESCRT proteins in fusion events involving lysosomes, endosomes and autophagosomes
    Daniel Metcalf
    Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Biochem Soc Trans 38:1469-73. 2010
    ....
  11. pmc FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration
    Hazel Urwin
    UCL Institute of Neurology, London, UK
    Acta Neuropathol 120:33-41. 2010
    ..We identified three FTLD-UPS cases, which are negative for CHMP2B mutation, suggesting that the full complement of FTLD pathologies is yet to be elucidated...
  12. pmc C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes
    Pietro Fratta
    Department of Neurodegenerative Disease, UCL Institute of Neurology, Queen Square, London WC1N 3BG, UK
    Sci Rep 2:1016. 2012
    ..Here we show using NMR and CD spectroscopy that the C9orf72 hexanucleotide expansion can form a stable G-quadruplex, which has profound implications for disease mechanism in ALS and FTD...
  13. ncbi request reprint A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes
    Jonathan D Rohrer
    Dementia Research Centre, Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    J Neurol 258:1494-6. 2011
    ..Together these cases suggest a potential for the same VCP mutation to produce distinct patterns of brain damage, underlining the clinical heterogeneity of VCP-associated disease...