Richard Wade-Martins

• C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

  Dafinca R. et al, (2016), Stem Cells, 34, 2063 - 2078

• Representation of spontaneous movement by dopaminergic neurons is cell-type selective and disrupted in parkinsonism.

  Dodson PD. et al, (2016), Proc Natl Acad Sci U S A, 113, E2180 - E2188

• Improving the physiological realism of experimental models.

  Vinnakota KC. et al, (2016), Interface Focus, 6

• ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.

  Fernandes HJ. et al, (2016), Stem Cell Reports, 6, 342 - 356

• LRRK2 BAC transgenic rats develop progressive, L-DOPA-responsive motor impairment, and deficits in dopamine circuit function.

  Sloan M. et al, (2016), Hum Mol Genet, 25, 951 - 963

• Can pathological oligomeric proteins make good biomarkers? (Commentary on Williams et al.).

  Roberts RF. and Wade-Martins R., (2016), Eur J Neurosci, 43, 1 - 2

• Protein-protein interaction networks identify targets which rescue the MPP+ cellular model of Parkinson's disease.

  Keane H. et al, (2015), Sci Rep, 5

• Generation of an Engineered, Vascularized, iPSC-derived Hepatic Module to Mitigate Genetic Disorders

  Ramakrishnan VM. et al, (2015), TISSUE ENGINEERING PART A, 21, S242 - S242

• Restoration of Physiologically Responsive Low-Density Lipoprotein Receptor-Mediated Endocytosis in Genetically Deficient Induced Pluripotent Stem Cells.

  Ramakrishnan VM. et al, (2015), Sci Rep, 5

• Delivery of the 135 kb human frataxin genomic DNA locus gives rise to different frataxin isoforms.

  Pérez-Luz S. et al, (2015), Genomics, 106, 76 - 82

• Expanded GAA repeats impair FXN gene expression and reposition the FXN locus to the nuclear lamina in single cells.

  Silva AM. et al, (2015), Hum Mol Genet, 24, 3457 - 3471

• Direct visualization of alpha-synuclein oligomers reveals previously undetected pathology in Parkinson's disease brain.

  Roberts RF. et al, (2015), Brain, 138, 1642 - 1657

• Parkinson's disease in GTP cyclohydrolase 1 mutation carriers.

  Ryan BJ. et al, (2015), Brain, 138

• Mitochondrial dysfunction and mitophagy in Parkinson's: from familial to sporadic disease.

  Ryan BJ. et al, (2015), Trends Biochem Sci, 40, 200 - 210

• Identification of distinct circulating exosomes in Parkinson's disease.

  Tomlinson PR. et al, (2015), Ann Clin Transl Neurol, 2, 353 - 361

• Investigating the function of microtubule-associated protein tau (MAPT) and its genetic association with Parkinson’s using human iPSC-derived dopamine neurons

  Beevers JE. et al, (2015)

• TARDBP pathogenic mutations increase cytoplasmic translocation of TDP-43 and cause reduction of endoplasmic reticulum Ca²⁺ signaling in motor neurons.

  Mutihac R. et al, (2015), Neurobiol Dis, 75, 64 - 77

• Impaired intracellular trafficking defines early Parkinson's disease.

  Hunn BH. et al, (2015), Trends Neurosci, 38, 178 - 188

• Impaired intracellular trafficking defines early Parkinson's disease

  Hunn BHM. et al, (2015), Trends in Neurosciences, 38, 178 - 188

• Growth Arrest Specific 1 (Gas1) Gene Overexpression in Liver Reduces the In Vivo Progression of Murine Hepatocellular Carcinoma and Partially Restores Gene Expression Levels.

  Sacilotto N. et al, (2015), PLoS One, 10

• Delivery of the 135kb human frataxin genomic DNA locus gives rise to different frataxin isoforms

  Pérez-Luz S. et al, (2015), Genomics, 106, 76 - 82

• Investigating the function of microtubule-associated protein tau (MAPT) and its genetic association with Parkinson’s using human iPSC-derived dopamine neurons

  Beevers JE. et al, (2014)

• An impedimetric assay of α-synuclein autoantibodies in early stage Parkinson's disease

  Xu Q. et al, (2014), RSC Advances, 4, 58773 - 58777

• R-loops associated with triplet repeat expansions promote gene silencing in Friedreich ataxia and fragile X syndrome.

  Groh M. et al, (2014), PLoS Genet, 10

• Region-specific deficits in dopamine, but not norepinephrine, signaling in a novel A30P α-synuclein BAC transgenic mouse.

  Taylor TN. et al, (2014), Neurobiol Dis, 62, 193 - 207

• Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.

  Ahmadi S. and Wade-Martins R., (2014), Neurobiol Aging, 35, 443.e5 - 443.e16

• α-Synuclein and mitochondrial bioenergetics regulate tetrahydrobiopterin levels in a human dopaminergic model of Parkinson disease.

  Ryan BJ. et al, (2014), Free Radic Biol Med, 67, 58 - 68

• The influence of age and gender on motor and non-motor features of early Parkinson's disease: initial findings from the Oxford Parkinson Disease Center (OPDC) discovery cohort.

  Szewczyk-Krolikowski K. et al, (2014), Parkinsonism Relat Disord, 20, 99 - 105

• The influence of age and gender on motor and non-motor features of early Parkinson's disease: Initial findings from the Oxford Parkinson Disease Center (OPDC) discovery cohort

  Szewczyk-Krolikowski K. et al, (2014), Parkinsonism and Related Disorders, 20, 99 - 105

• Physiological characterisation of human iPS-derived dopaminergic neurons.

  Hartfield EM. et al, (2014), PLoS One, 9

• Parkinson's disease in a dish - Using stem cells as a molecular tool.

  Badger JL. et al, (2014), Neuropharmacology, 76 Pt A, 88 - 96

• A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.

  Lufino MM. et al, (2013), Hum Mol Genet, 22, 5173 - 5187

• Induced pluripotent stem cell (iPSC)-derived dopaminergic models of Parkinson's disease.

  Beevers JE. et al, (2013), Biochem Soc Trans, 41, 1503 - 1508

• Deficits in dopaminergic transmission precede neuron loss and dysfunction in a new Parkinson model.

  Janezic S. et al, (2013), Proc Natl Acad Sci U S A, 110, E4016 - E4025

• HSV-1 AMPLICON MEDIATED DELIVERY OF THE HUMAN beta-GLOBIN LOCUS

  McColl B. et al, (2013), JOURNAL OF GENE MEDICINE, 15, 337 - 337

• RNA dysfunction and aggrephagy at the centre of an amyotrophic lateral sclerosis/frontotemporal dementia disease continuum.

  Thomas M. et al, (2013), Brain, 136, 1345 - 1360

• Insights into LRRK2 function and dysfunction from transgenic and knockout rodent models.

  Sloan M. et al, (2012), Biochem Soc Trans, 40, 1080 - 1085

• Cellular reprogramming: a new approach to modelling Parkinson's disease.

  Hartfield EM. et al, (2012), Biochem Soc Trans, 40, 1152 - 1157

• Mitochondrial bioenergetics in a cell culture model of Parkinson's disease

  Ryan BJ. et al, (2012), FREE RADICAL BIOLOGY AND MEDICINE, 53, S178 - S178

• Genetics: The MAPT locus-a genetic paradigm in disease susceptibility.

  Wade-Martins R., (2012), Nat Rev Neurol, 8, 477 - 478

• The role of MAPT sequence variation in mechanisms of disease susceptibility.

  Caffrey TM. and Wade-Martins R., (2012), Biochem Soc Trans, 40, 687 - 692

• Functional and genetic analysis of haplotypic sequence variation at the nicastrin genomic locus

  Hamilton G. et al, (2012), Neurobiology of Aging, 33

• Functional and genetic analysis of haplotypic sequence variation at the nicastrin genomic locus.

  Hamilton G. et al, (2012), Neurobiology of aging, 33

• Functional and genetic analysis of haplotypic sequence variation at the nicastrin genomic locus.

  Hamilton G. et al, (2012), Neurobiol Aging, 33, 1848.e1 - 1848.13

• RNAi-mediated knockdown of HMG CoA reductase enhances gene expression from physiologically regulated low-density lipoprotein receptor therapeutic vectors in vivo.

  Hibbitt O. et al, (2012), Gene Ther, 19, 463 - 467

• RNAi-mediated knockdown of HMG CoA reductase enhances gene expression from physiologically regulated low-density lipoprotein receptor therapeutic vectors in vivo

  Hibbitt O. et al, (2012), Gene Therapy, 19, 463 - 467

• Guidelines for the use and interpretation of assays for monitoring autophagy.

  Klionsky DJ. et al, (2012), Autophagy, 8, 445 - 544

• A novel method for autophagy detection in primary cells: impaired levels of macroautophagy in immunosenescent T cells.

  Phadwal K. et al, (2012), Autophagy, 8, 677 - 689

• Combining M-FISH and Quantum Dot technology for fast chromosomal assignment of transgenic insertions.

  Yusuf M. et al, (2011), BMC Biotechnol, 11

• Infectious delivery and long-term persistence of transgene expression in the brain by a 135-kb iBAC-FXN genomic DNA expression vector.

  Gimenez-Cassina A. et al, (2011), Gene Ther, 18, 1015 - 1019

• Infectious delivery and long-term persistence of transgene expression in the brain by a 135-kb iBAC-FXN genomic DNA expression vector

  Gimenez-Cassina A. et al, (2011), Gene Therapy, 18, 1015 - 1019

• A BACwards glance at neurodegeneration: molecular insights into disease from LRRK2, SNCA and MAPT BAC-transgenic mice.

  Johnson SJ. and Wade-Martins R., (2011), Biochem Soc Trans, 39, 862 - 867

• Functional alterations to the nigrostriatal system in mice lacking all three members of the synuclein family.

  Anwar S. et al, (2011), J Neurosci, 31, 7264 - 7274

• Tau protein is required for amyloid {beta}-induced impairment of hippocampal long-term potentiation.

  Shipton OA. et al, (2011), J Neurosci, 31, 1688 - 1692

• High capacity extrachromosomal gene expression vectors.

  Hibbitt O. and Wade-Martins R., (2011), Methods Mol Biol, 738, 19 - 40

• Episomal transgene expression in pluripotent stem cells.

  Lufino MM. et al, (2011), Methods Mol Biol, 767, 369 - 387

• Developing extrachromosomal gene expression vector technologies: an overview.

  Wade-Martins R., (2011), Methods Mol Biol, 738, 1 - 17

• α-Synuclein and dopamine at the crossroads of Parkinson's disease.

  Venda LL. et al, (2010), Trends Neurosci, 33, 559 - 568

• UNDERSTANDING THE EARLY PATHOLOGICAL PATHWAYS IN PARKINSON'S DISEASE. THE OXFORD PARKINSON'S DISEASE CENTRE

  Hu M. et al, (2010), JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 81, E59 - E59

• Targeted Gene Knockdown of HMG CoA Reductase Increases Transgene Expression from Genomic DNA LDLR Mini-Gene Vectors In Vitro and In Vivo: Increased Transgene Expression from Genomic LDLR Mini-Gene Vectors In Vitro and In Vivo Following Targeted Knockdown of HMG CoA Reductase

  Hibbitt OC. et al, (2010), HUMAN GENE THERAPY, 21, 505 - 505

• Long-term physiologically regulated expression of the low-density lipoprotein receptor in vivo using genomic DNA mini-gene constructs.

  Hibbitt OC. et al, (2010), Mol Ther, 18, 317 - 326

• A high-throughput pharmaceutical screen identifies compounds with specific toxicity against BRCA2-deficient tumors.

  Evers B. et al, (2010), Clin Cancer Res, 16, 99 - 108

• Parkinson disease, LRRK2 and the endocytic-autophagic pathway.

  Alegre-Abarrategui J. and Wade-Martins R., (2009), Autophagy, 5, 1208 - 1210

• LRRK2 regulates autophagic activity and localizes to specific membrane microdomains in a novel human genomic reporter cellular model.

  Alegre-Abarrategui J. et al, (2009), Hum Mol Genet, 18, 4022 - 4034

• Physiological transgene regulation and functional complementation of a neurological disease gene deficiency in neurons.

  Peruzzi PP. et al, (2009), Mol Ther, 17, 1517 - 1526

• Quantitative characterization of cell transduction by HSV-1 amplicons using flow cytometry and real-time PCR.

  El-Sherbini YM. et al, (2009), J Virol Methods, 159, 160 - 166

• Physiological Regulation and Long Term Expression of the Low Density Lipoprotein Receptor Transgene In Vivo from Genomic DNA Mini-Gene Constructs

  Hibbitt OC. et al, (2009), MOLECULAR THERAPY, 17, S29 - S29

• A Novel Genomic DNA-Reporter Gene Model for the Study of Friedreich's Ataxia in Neuronal Cells

  Lufino MMP. et al, (2009), MOLECULAR THERAPY, 17, S325 - S326

• A common variant associated with dyslexia reduces expression of the KIAA0319 gene.

  Dennis MY. et al, (2009), PLoS Genet, 5

• Lentiviral gene transfer to reduce atherosclerosis progression by long-term CC-chemokine inhibition.

  Bursill CA. et al, (2009), Gene Ther, 16, 93 - 102

• Knock-out and transgenic mouse models of tauopathies.

  Denk F. and Wade-Martins R., (2009), Neurobiol Aging, 30, 1 - 13

• The effect of alpha-synuclein knockdown on MPP+ toxicity in models of human neurons.

  Fountaine TM. et al, (2008), Eur J Neurosci, 28, 2459 - 2473

• Haplotype-specific expression of the N-terminal exons 2 and 3 at the human MAPT locus.

  Caffrey TM. et al, (2008), Neurobiol Aging, 29, 1923 - 1929

• Advances in high-capacity extrachromosomal vector technology: episomal maintenance, vector delivery, and transgene expression.

  Lufino MM. et al, (2008), Mol Ther, 16, 1525 - 1538

• LRRK2 is a component of granular alpha-synuclein pathology in the brainstem of Parkinson's disease.

  Alegre-Abarrategui J. et al, (2008), Neuropathol Appl Neurobiol, 34, 272 - 283

• Physiologically-regulated low density lipoprotein receptor (LDLR) expression vectors for the treatment of familial hypercholesterolemia

  Hibbitt OC. et al, (2008), HUMAN GENE THERAPY, 19, 406 - 406

• Increased striatal dopamine release and hyperdopaminergic-like behaviour in mice lacking both alpha-synuclein and gamma-synuclein.

  Senior SL. et al, (2008), Eur J Neurosci, 27, 947 - 957

• LRRTM1 protein is located in the endoplasmic reticulum (ER) in mammalian cells

  Francks C. et al, (2007), Molecular Psychiatry, 12

• LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia.

  Francks C. et al, (2007), Mol Psychiatry, 12, 1129 - 1057

• Functional MAPT haplotypes: bridging the gap between genotype and neuropathology.

  Caffrey TM. and Wade-Martins R., (2007), Neurobiol Dis, 27, 1 - 10

• Delivery and long-term expression of a 135 kb LDLR genomic DNA locus in vivo by hydrodynamic tail vein injection.

  Hibbitt OC. et al, (2007), J Gene Med, 9, 488 - 497

• Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs.

  Eeds AM. et al, (2007), Am J Hum Genet, 80, 740 - 750

• RNA interference-mediated knockdown of alpha-synuclein protects human dopaminergic neuroblastoma cells from MPP(+) toxicity and reduces dopamine transport.

  Fountaine TM. and Wade-Martins R., (2007), J Neurosci Res, 85, 351 - 363

• Infectious delivery and expression of a 135 kb human FRDA genomic DNA locus complements Friedreich's ataxia deficiency in human cells.

  Gomez-Sebastian S. et al, (2007), Mol Ther, 15, 248 - 254

• An S/MAR-based infectious episomal genomic DNA expression vector provides long-term regulated functional complementation of LDLR deficiency.

  Lufino MM. et al, (2007), Nucleic Acids Res, 35

• Haplotype-specific expression of exon 10 at the human MAPT locus.

  Caffrey TM. et al, (2006), Hum Mol Genet, 15, 3529 - 3537

• Expression of the KIAA0319 gene from a haplotype associated with developmental dyslexia

  Dennis M. et al, (2006), AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 141B, 710 - 710

• A novel human artificial chromosome gene expression system using herpes simplex virus type 1 vectors.

  Moralli D. et al, (2006), EMBO Rep, 7, 911 - 918

• Delivery of large genomic DNA inserts >100 kb using HSV-1 amplicons.

  Hibbitt OC. and Wade-Martins R., (2006), Curr Gene Ther, 6, 325 - 336

• The chromosome 6p22 haplotype associated with dyslexia reduces the expression of KIAA0319, a novel gene involved in neuronal migration.

  Paracchini S. et al, (2006), Hum Mol Genet, 15, 1659 - 1666

• Infectious Delivery and Prolonged Expression of a 135 kb Human Friedreich's Ataxia Genomic DNA Locus in Human and Mouse Neuronal Cells

  Gomez-Sebastian S. et al, (2006), MOLECULAR THERAPY, 13, S410 - S411

• A Novel Gene Expression System Using Human Artificial Chromosome-HSV-1 Vectors

  Moralli D. et al, (2006), MOLECULAR THERAPY, 13, S60 - S60

• Herpes simplex virus type 1 amplicon vectors for the infectious delivery and expression of genomic DNA loci.

  Senior SL. and Wade-Martins R., (2005), Curr Opin Mol Ther, 7, 337 - 345

• Delivering RNA interference to the mammalian brain.

  Fountaine TM. et al, (2005), Curr Gene Ther, 5, 399 - 410

• Studying RNA instability mutations via a novel model using a BAC clone.

  Eeds A. et al, (2005), MOLECULAR GENETICS AND METABOLISM, 84, 208 - 208

• HSV-1 delivery of artificial chromosomes to human cells

  Moralli D. et al, (2004), JOURNAL OF GENE MEDICINE, 6, S11 - S11

• High capacity viral vectors for genomic DNA transgene delivery: Applications to gene therapy and functional genomics

  Wade-Martins R. et al, (2004), JOURNAL OF GENE MEDICINE, 6, S4 - S5

• Infectious delivery of the 132 kb CDKN2A/CDKN2B genomic DNA region results in correctly spliced gene expression and growth suppression in glioma cells.

  Inoue R. et al, (2004), Gene Ther, 11, 1195 - 1204

• Molecular and functional analysis of SUMF1 mutations in multiple sulfatase deficiency.

  Cosma MP. et al, (2004), Hum Mutat, 23, 576 - 581

• The HSV-1 iBAC amplicon vector for functional genomics studies into the genetic mechanisms of neurodegenerative disease

  Lawler SE. et al, (2004), MOLECULAR THERAPY, 9, S301 - S302

• Molecular and Functional Analysis of SUMF1 Mutations in Multiple Sulfatase Deficiency

  Cosma MP. et al, (2004), HUMAN MUTATION, 23, 576 - 581

• Functional delivery of large genomic DNA to human cells with a peptide-lipid vector.

  White RE. et al, (2003), J Gene Med, 5, 883 - 892

• Infectious delivery of the 132 kb CDKN2A/CDKN2B genomic DNA region results in correctly spliced gene expression and growth suppression in glioma cells

  Inoue R. et al, (2003), MOLECULAR THERAPY, 7, S471 - S471

• Infectious delivery of a 135-kb LDLR genomic locus leads to regulated complementation of low-density lipoprotein receptor deficiency in human cells.

  Wade-Martins R. et al, (2003), Mol Ther, 7, 604 - 612

• Examination of the pathological mechanism of the microtubule associated protein tau using an HSV amplicon based neuronal gene delivery system

  Lawler SE. et al, (2003), MOLECULAR THERAPY, 7, S369 - S370

• The iBAC: an efficient high capacity genomic DNA expression system.

  Wade-Martins R. et al, (2002), AMERICAN JOURNAL OF HUMAN GENETICS, 71, 202 - 202

• Infectious delivery of 120-kilobase genomic DNA by an epstein-barr virus amplicon vector.

  White RE. et al, (2002), Mol Ther, 5, 427 - 435

• Sequences adjacent to oriP improve the persistence of Epstein-Barr virus-based episomes in B cells.

  White RE. et al, (2001), J Virol, 75, 11249 - 11252

• An infectious transfer and expression system for genomic DNA loci in human and mouse cells.

  Wade-Martins R. et al, (2001), Nat Biotechnol, 19, 1067 - 1070

• Stable correction of a genetic deficiency in human cells by an episome carrying a 115 kb genomic transgene.

  Wade-Martins R. et al, (2000), Nat Biotechnol, 18, 1311 - 1314

• Long-term stability of large insert genomic DNA episomal shuttle vectors in human cells.

  Wade-Martins R. et al, (1999), Nucleic Acids Res, 27, 1674 - 1682

• Assignment of Sox4 to mouse chromosome 13 bands A3-A5 by fluorescence in situ hybridization; refinement of the human SOX4 location to 6p22.3 and of SOX20 to chromosome 17p12.3.

  Critcher R. et al, (1998), Cytogenet Cell Genet, 81, 294 - 295

Key Publications

• Deficits in dopaminergic transmission precede neuron loss and dysfunction in a new Parkinson model.

  Janezic S. et al, (2013), Proc Natl Acad Sci U S A, 110, E4016 - E4025

• A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.

  Lufino MM. et al, (2013), Hum Mol Genet, 22, 5173 - 5187

• Tau protein is required for amyloid {beta}-induced impairment of hippocampal long-term potentiation.

  Shipton OA. et al, (2011), J Neurosci, 31, 1688 - 1692

• Functional alterations to the nigrostriatal system in mice lacking all three members of the synuclein family.

  Anwar S. et al, (2011), J Neurosci, 31, 7264 - 7274

• LRRK2 regulates autophagic activity and localizes to specific membrane microdomains in a novel human genomic reporter cellular model.

  Alegre-Abarrategui J. et al, (2009), Hum Mol Genet, 18, 4022 - 4034

Recent Publications

• C9orf72 Hexanucleotide Expansions Are Associated with Altered Endoplasmic Reticulum Calcium Homeostasis and Stress Granule Formation in Induced Pluripotent Stem Cell-Derived Neurons from Patients with Amyotrophic Lateral Sclerosis and Frontotemporal Dementia.

  Dafinca R. et al, (2016), Stem Cells, 34, 2063 - 2078

• Representation of spontaneous movement by dopaminergic neurons is cell-type selective and disrupted in parkinsonism.

  Dodson PD. et al, (2016), Proc Natl Acad Sci U S A, 113, E2180 - E2188

• Improving the physiological realism of experimental models.

  Vinnakota KC. et al, (2016), Interface Focus, 6

• ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.

  Fernandes HJ. et al, (2016), Stem Cell Reports, 6, 342 - 356

• LRRK2 BAC transgenic rats develop progressive, L-DOPA-responsive motor impairment, and deficits in dopamine circuit function.

  Sloan M. et al, (2016), Hum Mol Genet, 25, 951 - 963