Janine Kirby

Summary

Affiliation: University of Sheffield
Country: UK

Publications

  1. ncbi request reprint Mutations in VAPB are not associated with sporadic ALS
    J Kirby
    Academic Neurology Unit, University of Sheffield, School of Medicine and Biomedical Sciences, Sheffield, UK
    Neurology 68:1951-3. 2007
  2. pmc Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation
    J Kirby
    Academic Unit of Neurology, Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK
    Neuropathol Appl Neurobiol 39:562-71. 2013
  3. pmc Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation
    Vladimir L Buchman
    School of Biosciences, Cardiff University, Museum Avenue, Cardiff, CF10 3AX, UK
    Mol Neurodegener 8:12. 2013
  4. pmc Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis
    Janine Kirby
    Academic Neurology Unit, Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK
    Brain 134:506-17. 2011
  5. doi request reprint Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis
    Janine Kirby
    Department of Neuroscience, Faculty of Medicine, Dentistry and Health, University of Sheffield, Medical School, Sheffield, UK
    Neurogenetics 11:217-25. 2010
  6. ncbi request reprint Impairment of mitochondrial anti-oxidant defence in SOD1-related motor neuron injury and amelioration by ebselen
    Clare A Wood-Allum
    Academic Neurology Unit, The University of Sheffield Medical School Sheffield, UK
    Brain 129:1693-709. 2006
  7. pmc Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity
    Alice Brockington
    Academic Neurology Unit, Sheffield Institute for Translational Neuroscience SITRAN, University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, UK
    Acta Neuropathol 125:95-109. 2013
  8. pmc C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study
    Johnathan Cooper-Knock
    Sheffield Institute for Translational Neuroscience, Sheffield Children s NHS Foundation Trust, Western Bank, UK
    Neurology 81:808-11. 2013
  9. pmc Dysregulation of astrocyte-motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis
    Laura Ferraiuolo
    Sheffield Institute for Translational Neuroscience, Department of Neuroscience, Faculty of Medicine, Dentistry and Health University of Sheffield 385A Glossop Road, Sheffield S10 2HQ, UK
    Brain 134:2627-41. 2011
  10. pmc Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)
    Laura E Cox
    Department of Neuroscience, University of Sheffield, Sheffield, South Yorkshire, United Kingdom
    PLoS ONE 5:e9872. 2010

Collaborators

Detail Information

Publications27

  1. ncbi request reprint Mutations in VAPB are not associated with sporadic ALS
    J Kirby
    Academic Neurology Unit, University of Sheffield, School of Medicine and Biomedical Sciences, Sheffield, UK
    Neurology 68:1951-3. 2007
  2. pmc Lack of unique neuropathology in amyotrophic lateral sclerosis associated with p.K54E angiogenin (ANG) mutation
    J Kirby
    Academic Unit of Neurology, Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK
    Neuropathol Appl Neurobiol 39:562-71. 2013
    ..The aim of this study was to establish the incidence of ANG mutations in a large cohort of 517 patients from Northern England and establish the neuropathology associated with these cases...
  3. pmc Simultaneous and independent detection of C9ORF72 alleles with low and high number of GGGGCC repeats using an optimised protocol of Southern blot hybridisation
    Vladimir L Buchman
    School of Biosciences, Cardiff University, Museum Avenue, Cardiff, CF10 3AX, UK
    Mol Neurodegener 8:12. 2013
    ....
  4. pmc Phosphatase and tensin homologue/protein kinase B pathway linked to motor neuron survival in human superoxide dismutase 1-related amyotrophic lateral sclerosis
    Janine Kirby
    Academic Neurology Unit, Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield, UK
    Brain 134:506-17. 2011
    ..Therefore, these data indicate that proteins in the phosphatidylinositol-3 kinase pathway could represent a target for therapeutic manipulation in motor neuron degeneration...
  5. doi request reprint Broad clinical phenotypes associated with TAR-DNA binding protein (TARDBP) mutations in amyotrophic lateral sclerosis
    Janine Kirby
    Department of Neuroscience, Faculty of Medicine, Dentistry and Health, University of Sheffield, Medical School, Sheffield, UK
    Neurogenetics 11:217-25. 2010
    ..However, all cases had an absence of clinically overt cognitive dysfunction...
  6. ncbi request reprint Impairment of mitochondrial anti-oxidant defence in SOD1-related motor neuron injury and amelioration by ebselen
    Clare A Wood-Allum
    Academic Neurology Unit, The University of Sheffield Medical School Sheffield, UK
    Brain 129:1693-709. 2006
    ....
  7. pmc Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity
    Alice Brockington
    Academic Neurology Unit, Sheffield Institute for Translational Neuroscience SITRAN, University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, UK
    Acta Neuropathol 125:95-109. 2013
    ..The findings suggest that reduced susceptibility to excitotoxicity, mediated in part through enhanced GABAergic transmission, is an important determinant of the relative resistance of oculomotor neurons to degeneration in ALS...
  8. pmc C9ORF72 expansions, parkinsonism, and Parkinson disease: a clinicopathologic study
    Johnathan Cooper-Knock
    Sheffield Institute for Translational Neuroscience, Sheffield Children s NHS Foundation Trust, Western Bank, UK
    Neurology 81:808-11. 2013
    ..To determine the histopathologic bases for the observed incidence of parkinsonism in families with C9ORF72 expansions, which typically cause amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia...
  9. pmc Dysregulation of astrocyte-motoneuron cross-talk in mutant superoxide dismutase 1-related amyotrophic lateral sclerosis
    Laura Ferraiuolo
    Sheffield Institute for Translational Neuroscience, Department of Neuroscience, Faculty of Medicine, Dentistry and Health University of Sheffield 385A Glossop Road, Sheffield S10 2HQ, UK
    Brain 134:2627-41. 2011
    ....
  10. pmc Mutations in CHMP2B in lower motor neuron predominant amyotrophic lateral sclerosis (ALS)
    Laura E Cox
    Department of Neuroscience, University of Sheffield, Sheffield, South Yorkshire, United Kingdom
    PLoS ONE 5:e9872. 2010
    ..The initial aim of this study was to determine whether mutations in CHMP2B contribute more broadly to ALS pathogenesis...
  11. ncbi request reprint Mutant SOD1 alters the motor neuronal transcriptome: implications for familial ALS
    Janine Kirby
    Academic Neurology Unit, University of Sheffield, School of Medicine and Biomedical Sciences, Sheffield, UK
    Brain 128:1686-706. 2005
    ..Preliminary studies on isolated motor neurons from SOD1-associated motor neuron disease cases suggest key genes are also differently expressed in the human disease...
  12. doi request reprint Transcriptional response of the neuromuscular system to exercise training and potential implications for ALS
    Laura Ferraiuolo
    Academic Neurology Unit, Department of Neuroscience, School of Medicine and Biomedical Sciences, University of Sheffield, Sheffield, UK
    J Neurochem 109:1714-24. 2009
    ....
  13. ncbi request reprint Microarray analysis of the cellular pathways involved in the adaptation to and progression of motor neuron injury in the SOD1 G93A mouse model of familial ALS
    Laura Ferraiuolo
    Academic Neurology Unit, Section of Neuroscience, School of Medicine and Biomedical Sciences, University of Sheffield, Sheffield S10 2RX, United Kingdom
    J Neurosci 27:9201-19. 2007
    ..The changes described in the motor neuron transcriptome evolving during the disease course highlight potential novel targets for neuroprotective therapeutic intervention...
  14. doi request reprint Concurrence of multiple sclerosis and amyotrophic lateral sclerosis in patients with hexanucleotide repeat expansions of C9ORF72
    Azza Ismail
    Academic Neurology Unit, Sheffield Institute for Translational Neuroscience SITRAN, University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, UK
    J Neurol Neurosurg Psychiatry 84:79-87. 2013
    ..A GGGGCC hexanucleotide repeat expansion of C9ORF72 has recently been identified in a significant proportion of patients with ALS...
  15. pmc Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72
    Johnathan Cooper-Knock
    Sheffield Institute for Translational Neuroscience, University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, UK
    Brain 135:751-64. 2012
    ..0005) discriminated C9ORF72 cases strongly from the rest of the cohort. Inclusions in CA4 neurons were not present in non-C9ORF72 cases, indicating that this pathology predicts mutation status...
  16. doi request reprint Novel FUS/TLS mutations and pathology in familial and sporadic amyotrophic lateral sclerosis
    Christopher Hewitt
    Academic Unit of Neurology, University of Sheffield, Medical School, Beech Hill Road, Sheffield S10 2RX, England
    Arch Neurol 67:455-61. 2010
    ..To determine the frequency of and clinicopathologic phenotypes associated with FUS/TLS mutations in a large cohort of amyotrophic lateral sclerosis (ALS) cases from the north of England...
  17. ncbi request reprint Gene expression profiling in human neurodegenerative disease
    Johnathan Cooper-Knock
    Academic Unit of Neurology, Sheffield Institute for Translational Neuroscience, University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, UK
    Nat Rev Neurol 8:518-30. 2012
    ..This Review also provides a discussion of methodological considerations in microarray sample preparation and data analysis...
  18. doi request reprint Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology
    Paul G Ince
    Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, Sheffield S10 2HQ, UK
    Acta Neuropathol 122:657-71. 2011
    ....
  19. doi request reprint Loss of nuclear TDP-43 in ALS causes altered expression of splicing machinery and widespread dysregulation of RNA splicing in motor neurons
    J Robin Highley
    Sheffield Institute for Translational Neuroscience SITRAN, University of Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, United Kingdom
    Neuropathol Appl Neurobiol . 2014
    ....
  20. ncbi request reprint Analysis of the cytosolic proteome in a cell culture model of familial amyotrophic lateral sclerosis reveals alterations to the proteasome, antioxidant defenses, and nitric oxide synthetic pathways
    Simon Allen
    Academic Unit of Neurology, Division of Genomic Medicine, University of Sheffield, S10 2RX, United Kingdom
    J Biol Chem 278:6371-83. 2003
    ..These combined approaches provide further evidence for involvement of alterations in antioxidant defenses, proteasome function, and nitric oxide metabolism in the pathophysiology of FALS...
  21. doi request reprint Molecular pathways of motor neuron injury in amyotrophic lateral sclerosis
    Laura Ferraiuolo
    Academic Neurology Unit, Sheffield Institute for Translational Neuroscience, Department of Neuroscience, School of Medicine and Biomedical Sciences, University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, UK
    Nat Rev Neurol 7:616-30. 2011
    ..Ongoing research on the cellular pathways highlighted in this Review is predicted to open the door to new therapeutic interventions to slow disease progression in ALS...
  22. ncbi request reprint Gene expression assays
    Janine Kirby
    Academic Neurology Unit, Section of Neuroscience, School of Medicine and Biomedical Sciences, University of Sheffield, Sheffield S10 2RX, United Kingdom
    Adv Clin Chem 44:247-92. 2007
    ....
  23. pmc Sequestration of multiple RNA recognition motif-containing proteins by C9orf72 repeat expansions
    Johnathan Cooper-Knock
    1 Sheffield Institute for Translational Neuroscience SITraN, University of Sheffield, 385a Glossop Road, Sheffield S10 2HQ, UK
    Brain 137:2040-51. 2014
    ....
  24. ncbi request reprint Differential gene expression in a cell culture model of SOD1-related familial motor neurone disease
    Janine Kirby
    Academic Neurology Unit, University of Sheffield, School of Medicine and Biomedical Sciences, Beech Hill Road, Sheffield S10 2RX, UK
    Hum Mol Genet 11:2061-75. 2002
    ....
  25. pmc Comparison of blood RNA extraction methods used for gene expression profiling in amyotrophic lateral sclerosis
    Nadhim Bayatti
    Sheffield Institute for Translational Neuroscience, Department of Neuroscience, University of Sheffield, Sheffield, United Kingdom
    PLoS ONE 9:e87508. 2014
    ..Real-time PCR validation revealed similar reliability between these two methods and gene ontology analyses revealed similar pathways differentially regulated in disease compared to controls. ..
  26. doi request reprint New pedigrees and novel mutation expand the phenotype of REEP1-associated hereditary spastic paraplegia (HSP)
    Channa Hewamadduma
    The Academic Neurology Unit, Section of Neuroscience, Medical School, University of Sheffield, Sheffield, UK
    Neurogenetics 10:105-10. 2009
    ..The phenotype of ADHSP associated with REEP1 mutation is broader than initially reported. The spastic paraparesis in SPG31 may be complicated by the presence of amyotrophy, bulbar palsy and/or peripheral neuropathy...
  27. pmc The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype
    Johnathan Cooper-Knock
    Department of Neuroscience, Sheffield Institute for Translational Neuroscience, University of Sheffield, 385a Glossop Road, Sheffield, S10 2HQ, UK
    Acta Neuropathol 127:333-45. 2014
    ..This variability/instability in expansion length, along with its interactions with environmental and genetic modifiers, such as TMEM106B, may be the basis of the differing clinical phenotypes arising from the mutation. ..