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Genomes and Genes | Anthony H V SchapiraSummaryAffiliation: University College London Country: UK Publications
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Publications
Mitochondrial diseaseAnthony H V Schapira
University Department of Clinical Neurosciences, Royal Free and University College Medical School, and Institute of Neurology, University College London, London NW3 2PF, UK
Lancet 368:70-82. 2006..Improved understanding of mtDNA inheritance and mutation penetrance patterns, and novel techniques for mtDNA modification offer significant prospects for more accurate genetic counselling and effective future therapies...- Assessment of the significance of mitochondrial DNA damage by chemotherapeutic agentsSoo Lo
Department of Oncology, Royal Free and University College Medical School, University College London, London W1P 8BT, UK
Int J Oncol 27:337-44. 2005..Mitochondrial DNA is a critical target for MKT-077 and daunorubicin, and is a potential target for novel chemotherapeutic agents... - PINK1-parkin-dependent mitophagy involves ubiquitination of mitofusins 1 and 2: Implications for Parkinson disease pathogenesisMatthew E Gegg
Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
Autophagy 7:243-5. 2011..Here, we discuss how ubiquitination of the mitofusins might facilitate mitochondria degradation and the potential for activating mitophagy as a treatment for diseases affecting brain and muscle... 
Molecular and clinical pathways to neuroprotection of dopaminergic drugs in Parkinson diseaseAnthony H V Schapira
University Department of Clinical Neurosciences, Institute of Neurology, University College London, London, NW3 2PF, UK
Neurology 72:S44-50. 2009..The basis for this may lie in the support of basal ganglia compensatory mechanisms and the restoration of normal dopaminergic transmission...
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control studyDaniel G Healy
Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
Lancet Neurol 7:583-90. 2008..LRRK2-associated PD be distinguished from idiopathic PD; which mutations in LRRK2 are pathogenic; and what is the age-specific cumulative risk of PD for individuals who inherit or are at risk of inheriting a deleterious mutation in LRRK2?..- Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagyMatthew E Gegg
Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
Hum Mol Genet 19:4861-70. 2010..PINK1 and parkin are thus required for the removal of damaged mitochondria in dopaminergic cells, and inhibition of this pathway may lead to the accumulation of defective mitochondria which may contribute to PD pathogenesis... - G2019S leucine-rich repeat kinase 2 causes uncoupling protein-mediated mitochondrial depolarizationTatiana D Papkovskaia
Department of Clinical Neurosciences, Institute of Neurology, University College London, London NW3 2PF, UK
Hum Mol Genet 21:4201-13. 2012.... - Molecular and clinical prodrome of Parkinson disease: implications for treatmentAnthony H V Schapira
Department of Clinical Neurosciences, Institute of Neurology, University College Medical School, Rowland Hill Street, London NW3 2PF, UK
Nat Rev Neurol 6:309-17. 2010..The awareness of the early symptomatic period of PD also raises the possibility of providing treatments that not only improve motor function but might also favorably modify outcome... - Pramipexole protects against apoptotic cell death by non-dopaminergic mechanismsMei Gu
Royal Free and University College Medical School, University College London, London, UK
J Neurochem 91:1075-81. 2004..Further evaluation is required to determine whether the neuroprotective action of pramipexole is translated to a disease-modifying effect in PD patients... - Etiology and pathogenesis of Parkinson diseaseAnthony H V Schapira
University Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
Neurol Clin 27:583-603, v. 2009..Specific toxins can cause dopaminergic cell death in man and animals, but they probably have limited relevance to the etiology of PD... - Relationship between alpha synuclein phosphorylation, proteasomal inhibition and cell death: relevance to Parkinson's disease pathogenesisKai Yin Chau
University Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
J Neurochem 110:1005-13. 2009.... - Future directions in the treatment of Parkinson's diseaseAnthony H V Schapira
University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, London, UK
Mov Disord 22:S385-91. 2007..A range of nondopaminergic drugs including alpha 2-adrenergic antagonists, serotoninergics, and adenosine A2a antagonists are in late-stage development for PD and offer benefit for motor symptoms and motor complications... - Clinical correlates of mitochondrial function in Huntington's disease muscleChristopher Turner
University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, London, United Kingdom
Mov Disord 22:1715-21. 2007..These results provide additional evidence that mutant huntingtin influences mitochondrial complex II/III function in non-neuronal tissue (skeletal muscle) and suggest that muscle may be a potential marker of disease progression in HD... - Novel pharmacological targets for the treatment of Parkinson's diseaseAnthony H V Schapira
University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, Rowland Hill Street, London NW3 2PF, UK
Nat Rev Drug Discov 5:845-54. 2006.... - Genetic and environmental factors in the cause of Parkinson's diseaseThomas T Warner
Department of Clinical Neurosciences, Royal Free and University College Medical School, London NW3 2PF, United Kingdom
Ann Neurol 53:S16-23; discussion S23-5. 2003..This article reviews the evidence in support of genetic and environmental factors in the cause of PD... - Mitochondrial diseasesAnthony H V Schapira
Department of Clinical Neurosciences, Institute of Neurology, University College London, London, UK
Lancet 379:1825-34. 2012..Importantly, the mitochondrion is now a target for therapeutic interventions that encompass small molecules, transcriptional regulation, and genetic manipulation, offering opportunities to treat a diverse range of diseases... - International Cooperative Ataxia Rating Scale (ICARS): appropriate for studies of Friedreich's ataxia?Stefan J Cano
Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK
Mov Disord 20:1585-91. 2005..Further validity testing, and examination of responsiveness, is required before the ICARS can be recommended as an outcome measure for treatment trials of FDRA... - Etiology of Parkinson's diseaseAnthony H V Schapira
Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, United Kingdom
Neurology 66:S10-23. 2006..Therefore, common themes are beginning to emerge in the etiopathogenesis of PD. This bodes well for research focused on the development of treatments that will modify the course of PD... - Antioxidant treatment of patients with Friedreich ataxia: four-year follow-upPaul E Hart
University Department of Clinical Neurosciences, Royal Free and University College Medical School, London, England
Arch Neurol 62:621-6. 2005..CONCLUSION: This therapy resulted in sustained improvement in mitochondrial energy synthesis that was associated with a slowing of the progression of certain clinical features and a significant improvement in cardiac function... - Future strategies for neuroprotection in Parkinson's diseaseAnthony H V Schapira
Department of Clinical Neurosciences, Institute of Neurology, University College London, Rowland Hill Street, London, NW3 2PF, UK
Neurodegener Dis 7:210-2. 2010..Trials conducted so far have provided some indication of a positive effect, although the mechanism underlying this is not yet known... - Mitochondrial dysfunction in neurodegenerative diseasesAnthony H V Schapira
University Department of Clinical Neurosciences, Institute of Neurology, University College London, Rowland Hill Street, London, NW3 2PF, UK
Neurochem Res 33:2502-9. 2008..g. oxidative stress that may contribute to senescence, and environmental toxins that may cause disease either alone or in combination with a genetic predisposition... - Drug selection and timing of initiation of treatment in early Parkinson's diseaseAnthony H V Schapira
University Department of Clinical Neuroscience, Institute of Neurology, London, United Kingdom
Ann Neurol 64:S47-55. 2008..The most important limiting factor for the use of levodopa is the emergence of motor complications. These are related to a number of factors including the dose of levodopa and the duration of its use... - Characterization of a novel TYMP splice site mutation associated with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)Jan Willem Taanman
Department of Clinical Neurosciences, Institute of Neurology, University College London, Rowland Hill Street, London, United Kingdom
Neuromuscul Disord 19:151-4. 2009..The patient's fibroblasts showed gradual loss of the mitochondrial DNA-encoded subunit I of cytochrome-c oxidase, suggesting a progressive mitochondrial DNA defect in culture... - Proteasomal inhibition causes loss of nigral tyrosine hydroxylase neuronsAnthony H V Schapira
University Department of Clinical Neurosciences, Royal Free and University College, Medical School, London, United Kingdom
Ann Neurol 60:253-5. 2006..Systemic inhibition of the UPS warrants further evaluation as a means to model Parkinson's disease... - Rationale for delayed-start study of pramipexole in Parkinson's disease: the PROUD studyAnthony H V Schapira
Department of Clinical Neurosciences, Institute of Neurology, University College London, London, United Kingdom
Mov Disord 25:1627-32. 2010..The results of PROUD will provide insight into the potential for early versus delayed treatment with pramipexole to modify motor outcome at 15 months in recently diagnosed PD patients... - Mitochondrial dysfunction associated with neuronal death following status epilepticus in ratHannah R Cock
Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, WC1N 3BG, London, UK
Epilepsy Res 48:157-68. 2002..The pattern of abnormalities is consistent with reversible mechanisms being involved in excitotoxic cell damage. This, together with the timing of changes, suggests new avenues for therapeutic intervention... - Restless legs syndrome: an update on treatment optionsAnthony H V Schapira
University Department of Clinical Neurosciences, Royal Free and University College Medical School, London, UK
Drugs 64:149-58. 2004..Hypnosedatives also have a role in RLS management. Patients with intractable RLS may require combination treatment. Several systemic disorders can cause RLS, and these should be identified and treated appropriately... - Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletionJan Willem Taanman
Department of Clinical Neurosciences, Institute of Neurology, University College London, London, United Kingdom
Hum Mutat 30:248-54. 2009..The assays may facilitate the identification of those patients in whom screening for POLG mutations would be most appropriate... - Rationale for the use of dopamine agonists as neuroprotective agents in Parkinson's diseaseAnthony H V Schapira
University Department of Clinical Neurosciences, Royal Free and University College Medical School, UCL, Queen Square, London, United Kingdom
Ann Neurol 53:S149-57; discussion S157-9. 2003 - Chaperone-mediated autophagy markers in Parkinson disease brainsLydia Alvarez-Erviti
Centro Investigación Biomédica en Red Enfermedades Neurodegenerativas, University of Navarra, Pamplona, Spain
Arch Neurol 67:1464-72. 2010..To investigate chaperone-mediated autophagy in the pathogenesis of Parkinson disease (PD)... - Neuroprotection and dopamine agonistsAnthony H V Schapira
University Department of Clinical Neurosciences, Royal Free and University College Medical School, and the Institute of Neurology, University College London, London, UK
Neurology 58:S9-18. 2002..If the neuroprotective action of this drug is confirmed in patients with PD, this will have important implications for its early use in patients... - Aetiopathogenesis of Parkinson's diseaseAnthony H V Schapira
University Department of Clinical Neurosciences, Institute of Neurology, University College London, Rowland Hill Street, London NW3 2PF, UK
J Neurol 258:S307-10. 2011..The importance of identifying the molecular and biochemical events that lead to PD lies in the prospect that novel drug targets will emerge and that new compounds will be developed that slow the progression of the disease... - The clinical relevance of levodopa toxicity in the treatment of Parkinson's diseaseAnthony H V Schapira
University Department of Clinical Neurosciences, Institute of Neurology, University College London, London, United Kingdom
Mov Disord 23:S515-20. 2008..Indeed, there is no evidence to indicate that levodopa is toxic to PD patients, and even some suggestion that it may be protective... - Protection against paraquat and A53T alpha-synuclein toxicity by cabergoline is partially mediated by dopamine receptorsKai Yin Chau
University Department of Clinical Neurosciences, Institute of Neurology Royal Free Campus, University College London, Rowland Hill Street, London NW3 2PF, UK
J Neurol Sci 278:44-53. 2009..These results confirm the protective action of cabergoline in reducing cell death in two separate genetic and environmental model systems of PD... - Disease modification in Parkinson's diseaseAnthony H V Schapira
Royal Free and University College Medical School and the Institute of Neurology, University College London, UK
Lancet Neurol 3:362-8. 2004..The most important challenge, particularly for those drugs that might have a symptomatic effect, is defining appropriate markers that will confirm a neuroprotective effect... - Safinamide in the treatment of Parkinson's diseaseAnthony H V Schapira
University College London, Institute of Neurology, Department of Clinical Neurosciences, Rowland Hill Street, London NW3 2PF, UK
Expert Opin Pharmacother 11:2261-8. 2010..New drugs offering both dopaminergic and non-dopaminergic actions could offer a significant advantage... - Extended-release pramipexole in advanced Parkinson disease: a randomized controlled trialAnthony H V Schapira
Institute of Neurology, University College London, London, UK
Neurology 77:767-74. 2011..In advanced Parkinson disease (PD), immediate-release pramipexole, taken 3 times daily, improves symptoms and quality of life. A once-daily extended-release formulation may be an effective and simple alternative therapy... - Treatment options in the modern management of Parkinson diseaseAnthony H V Schapira
University Department of Clinical Neurosciences, Institute of Neurology, University College London, England
Arch Neurol 64:1083-8. 2007 - Neurobiology and treatment of Parkinson's diseaseAnthony H V Schapira
University Department of Clinical Neurosciences, University College London, London NW3 2PF, UK
Trends Pharmacol Sci 30:41-7. 2009..Particular progress has been made in the field of neuroprotection, where novel therapies and clinical trial designs are being tested. This review will focus particularly upon this area... - Mitochondria in the aetiology and pathogenesis of Parkinson's diseaseAnthony H V Schapira
University Department of Clinical Neurosciences and Institute of Neurology, University College London, London, UK
Lancet Neurol 7:97-109. 2008.... - Timing of treatment initiation in Parkinson's disease: a need for reappraisal?Anthony H V Schapira
University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, UK
Ann Neurol 59:559-62. 2006 - Neuroprotection in Parkinson's diseaseAnthony H V Schapira
University Department of Clinical Neurosciences, Institute of Neurology, UCL, London, UK
Parkinsonism Relat Disord 15:S41-3. 2009..Several drugs have attracted attention as potential neuroprotective agents in PD. There are numerous studies demonstrating beneficial effects in the laboratory, but clinical efficacy for neuroprotection remains unproven... - Parkinsonism in patients with chronic hepatitis C treated with interferon-alpha2b: a report of two casesMikio Kajihara
Centre for Hepatology, Department of Medicine, University College London Medical School, University College London, London, UK
Eur J Gastroenterol Hepatol 22:628-31. 2010..Prompt withdrawal of treatment is mandatory but does not always guarantee reversal of the Parkinsonian features... - Rasagiline in neurodegenerationAnthony H V Schapira
Institute of Neurology, University College London, Royal Free Campus, Rowland Hill Street, London NW3 2PF, UK
Exp Neurol 212:255-7. 2008 - Polyphenotypic expression of mitochondrial toxicity caused by nucleoside reverse transcriptase inhibitorsRobert F Miller
Department of Sexually Transmitted Diseases, Royal Free and University College Medical School, University College London and Camden Primary Care Trust, London, UK
Antivir Ther 8:253-7. 2003..At this stage, dual protease inhibitors and nevirapine were started. A repeat muscle biopsy 14 months after presentation showed normal morphology and respiratory chain biochemistry was almost normal... - Differences in toxicity of the catechol-O-methyl transferase inhibitors, tolcapone and entacapone to cultured human neuroblastoma cellsL V Prasad Korlipara
University Department of Clinical Neuroscience, Royal Free and University College Medical School, Rowland Hill Street, London NW3 2PF, UK
Neuropharmacology 46:562-9. 2004..However its toxicity may also involve a mechanism independent of its effects upon oxidative phosphorylation... - Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's diseaseJan Willem Taanman
University Department of Clinical Neurosciences, Royal Free and University College Medical School, University College London, Royal Free Campus, Rowland Hill Street, London NW3 2PF, UK
Neurosci Lett 376:56-9. 2005..Our results rule out POLG CAG repeat instability as a common pathogenic mechanism in idiopathic Parkinson's disease... - Relapsing neuropathy in an 18-year-old womanLionel Ginsberg
University Department of Clinical Neurosciences, Hampstead Campus, Royal Free and University College Medical School, University College London, UK
Lancet Neurol 6:192-8. 2007 - Neuroprotection in Parkinson disease: mysteries, myths, and misconceptionsAnthony H V Schapira
University Department of Clinical Neurosciences, Royal Free and University College Medical School, and Institute of Neurology, Queen Square, London, England
JAMA 291:358-64. 2004..We review clinical trials aimed at detecting neuroprotection in Parkinson disease and address the controversies surrounding the interpretation of these studies... - Mitochondria and amyotrophic lateral sclerosisRichard W Orrell
University Department of Clinical Neurosciences, Royal Free and University College Medical School, London NW3 2PF, United Kingdom
Int Rev Neurobiol 53:411-26. 2002 - Dopamine agonists in Parkinson's diseaseMitsutoshi Yamamoto
Department of Neurology, Kagawa, Prefectural Central Hospital, Takamatsu, Japan
Expert Rev Neurother 8:671-7. 2008..Thus, dopamine agonists contribute to several dimensions of the management of PD and have become an integral part of the disease treatment algorithm... - Friedreich's ataxia: from disease mechanisms to therapeutic interventionsRaffaele Lodi
Dipartimento di Medicina Clinica e Biotecnologia Applicata, Universita di Bologna, Bologna, Italy
Antioxid Redox Signal 8:438-43. 2006..Pilot studies have shown the potential effect of antioxidant therapy in this condition and provide a strong rationale for designing larger clinical randomized trials... - Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosisSteven R Danielson
Department of Molecular Biosciences, University of California Davis, School of Veterinary Medicine, Davis, California 95616, USA
J Biol Chem 277:5810-5. 2002..These data indicate that the most common and severe LHON pathogenic mutations 11778 and 3460 predispose cells to apoptosis, which may be relevant for the pathophysiology of cell death in LHON, and potential therapy... - Neuroprotection for Parkinson's disease: prospects and promisesC Warren Olanow
Ann Neurol 53:S1-2. 2003 - Role of the pharmacist in the effective management of wearing-off in Parkinson's diseaseWilliam Simonson
Commission for Certification in Geriatric Pharmacy
Ann Pharmacother 41:1842-9. 2007..To evaluate the role of the practicing pharmacist in the identification and current treatment of the levodopa wearing-off phenomenon experienced by patients with Parkinson's disease (PD) who are receiving chronic levodopa therapy... - Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell linesSimone Beretta
Department of Neuroscience and Biomedical Technologies, University of Milano-Bicocca, San Gerardo Hospital, Monza, MI, Italy
Brain 127:2183-92. 2004..This observation is particularly relevant since EAAT1 is the major means of glutamate removal in the inner retina and this prevents retinal ganglion cells being damaged as a result of excitotoxicity... - Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose mediumAnna Ghelli
Dipartimento di Biologia Evoluzionistica Sperimentale, Universita di Bologna, Italy
J Biol Chem 278:4145-50. 2003..In conclusion, LHON cybrid cells forced by the reduced rate of glycolytic flux to utilize oxidative metabolism are sensitized to an apoptotic death through a mechanism involving mitochondria... - Prevalence of nonmotor symptoms in Parkinson's disease in an international setting; study using nonmotor symptoms questionnaire in 545 patientsPablo Martinez Martin
Unit of Neuroepidemiology, National Center for Epidemiology, Carlos III Institute of Health, Madrid, Spain
Mov Disord 22:1623-9. 2007.... - Isolation of transcriptomal changes attributable to LHON mutations and the cybridization processSteven R Danielson
Department of Molecular Biosciences, University of California Davis, Davis, CA 95616, USA
Brain 128:1026-37. 2005..If these results are confirmed in patient tissues, aldose reductase inhibitors could have some therapeutic value for LHON... - Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybridsAlessandra Baracca
Dipartimento di Biochimica, University of Bologna, Italy
Arch Neurol 62:730-6. 2005..Stratification of the results by mutation suggests that the 11778/ND4 mutation may induce an uncoupling of cybrid respiration, whereas the other 2 mutations impair the oxygen consumption rate... - Non-motor symptoms of Parkinson's disease: diagnosis and managementK Ray Chaudhuri
Movement Disorders Unit, Kings College Hospital, Guy s King s and St Thomas School of Medicine, London, UK
Lancet Neurol 5:235-45. 2006..Inevitably, the development of treatments that can slow or prevent the progression of Parkinson's disease and its multicentric neurodegeneration provides the best hope of curing non-motor symptoms... - International multicenter pilot study of the first comprehensive self-completed nonmotor symptoms questionnaire for Parkinson's disease: the NMSQuest studyKallol Ray Chaudhuri
Movement Disorders Unit, Kings College Hospital, University Hospital Lewisham, Guy s King s and St Thomas School of Medicine, London, United Kingdom
Mov Disord 21:916-23. 2006..Furthermore, frequently, problems such as diplopia, dribbling, apathy, blues, taste and smell problems were never previously disclosed to the health professionals... - The importance of LRRK2 mutations in Parkinson diseaseAnthony H V Schapira
Arch Neurol 63:1225-8. 2006 - TCH346 as a neuroprotective drug in Parkinson's disease: a double-blind, randomised, controlled trialC Warren Olanow
Department of Neurology and Neuroscience, Mount Sinai School of Medicine, New York, NY 10029, USA
Lancet Neurol 5:1013-20. 2006..TCH346 is a potent anti-apoptotic drug that protects against loss of dopaminergic neurons in laboratory models. Our aim was to assess TCH346 as a neuroprotective drug in patients with Parkinson's disease... - The metric properties of a novel non-motor symptoms scale for Parkinson's disease: Results from an international pilot studyKallol Ray Chaudhuri
National Parkinson Foundation Centre of Excellence, Kings College Hospital, London, United Kingdom
Mov Disord 22:1901-11. 2007..70). In conclusion, NMSS can be used to assess the frequency and severity of NMS in PD patients across all stages in conjunction with the recently validated non-motor questionnaire... - Rotigotine transdermal patch in early Parkinson's disease: a randomized, double-blind, controlled study versus placebo and ropiniroleNir Giladi
Movement Disorders Unit, Department of Neurology, Tel Aviv Sourasky Medical Center, Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
Mov Disord 22:2398-404. 2007..Application-site reactions were predominantly mild or moderate in intensity. In conclusion, the rotigotine transdermal patch represents an effective and safe option for the treatment of patients with early Parkinson's disease... - Genetic and clinical heterogeneity in paroxysmal kinesigenic dyskinesia: evidence for a third EKD geneSian D Spacey
Department of Molecular Pathogenesis, Institute of Neurology, University College London, London, United Kingdom
Mov Disord 17:717-25. 2002..This study attempts to clarify the relationship of adolescent and infantile seizures to PKD and provides evidence that PKD is both genetically and clinically heterogeneous...