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Publications: Prof James Chapple

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Perna L, Salsbury G, Dushti M, Smith CJ, Morales V, Bianchi K, Czibik G, Chapple JP ( 2024 ) . Altered Cellular Metabolism Is a Consequence of Loss of the Ataxia-Linked Protein Sacsin . International Journal of Molecular Sciences vol. 25 , ( 24 )
Mcleod JC, Lim C, Stokes T, Sharif J-A, Zeynalli V, Wiens L, D’Souza AC, Colenso-Semple L et al. ( 2024 ) . Network-based modelling reveals cell-type enriched patterns of non-coding RNA regulation during human skeletal muscle remodelling . NAR Molecular Medicine
Ozkan-Nikitaras T, Grzesik DJ, Romano LEL, Chapple JP, King PJ, Shoulders CC ( 2024 ) . N-SREBP2 Provides a Mechanism for Dynamic Control of Cellular Cholesterol Homeostasis . Cells vol. 13 , ( 15 )
Marszalek J, De Los Rios P, Cyr D, Mayer MP, Adupa V, Andréasson C, Blatch GL, Braun JEA et al. ( 2023 ) . J-domain proteins: From molecular mechanisms to diseases . Cell Stress and Chaperones vol. 29 , ( 1 ) 21 - 33 .
Perna L, Castelli M, Frasnetti E, Romano LEL, Colombo G, Prodromou C, Chapple JP ( 2023 ) . AlphaFold predicted structure of the Hsp90-like domains of the neurodegeneration linked protein sacsin reveals key residues for ATPase activity . Frontiers in Molecular Biosciences vol. 9 ,
Prodromou C, Aran-Guiu X, Oberoi J, Perna L, Chapple JP, van der Spuy J ( 2022 ) . HSP70-HSP90 Chaperone Networking in Protein-Misfolding Disease . Subcellular Biochemistry vol. 101 , 389 - 425 .
Romano LEL, Aw WY, Hixson KM, Novoselova TV, Havener TM, Howell S, Taylor-Blake B, Hall CL et al. ( 2022 ) . Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization . Cell Reports vol. 41 , ( 5 )
Tufton N, Hearnden RJ, Berney DM, Drake WM, Parvanta L, Chapple JP, Akker SA ( 2022 ) . The immune cell infiltrate in the tumour microenvironment of phaeochromocytomas and paragangliomas . Endocrine Related Cancer vol. 29 , ( 11 ) 589 - 598 .
Sladen PE, Jovanovic K, Guarascio R, Ottaviani D, Salsbury G, Novoselova T, Chapple JP, Yu-Wai-Man P et al. ( 2022 ) . Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells . Human Molecular Genetics vol. 31 , ( 20 ) 3478 - 3493 .
Meireles CG, Lourenço de Lima C, Martins de Paula Oliveira M, Abe da Rocha Miranda R, Romano L, Yo-Stella Brashaw T, Neves da Silva Guerra E, de Assis Rocha Neves F et al. ( 2021 ) . Antiproliferative effects of metformin in cellular models of pheochromocytoma . Molecular and Cellular Endocrinology vol. 539 ,
Sladen PE, Perdigão PRL, Salsbury G, Novoselova T, van der Spuy J, Chapple JP, Yu-Wai-Man P, Cheetham ME ( 2021 ) . CRISPR-Cas9 correction of OPA1 c.1334G>A: p.R445H restores mitochondrial homeostasis in dominant optic atrophy patient-derived iPSCs . Molecular Therapy - Nucleic Acids vol. 26 , 432 - 443 .
Callender LA, Schroth J, Carroll EC, Garrod-Ketchley C, Romano LEL, Hendy E, Kelly A, Lavender P et al. ( 2021 ) . GATA3 induces mitochondrial biogenesis in primary human CD4+ T cells during DNA damage . Nature Communications
Thompson C, Mcfie M, Chapple J, BEALES P, Knight M ( 2021 ) . Polycystin-2 is required for chondrocyte mechanotransduction and traffics to the primary cilium in response to mechanical stimulation . International Journal of Molecular Sciences
Desai R, East DA, Hardy L, Faccenda D, Rigon M, Crosby J, Alvarez MS, Singh A et al. ( 2020 ) . Mitochondria form contact sites with the nucleus to couple prosurvival retrograde response . Science Advances vol. 6 , ( 51 )
Athanasiou D, Bevilacqua D, Aguila M, McCulley C, Kanuga N, Iwawaki T, Chapple JP, Cheetham ME ( 2020 ) . Corrigendum to: The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control . Human Molecular Genetics vol. 29 , ( 19 ) 3338 - 3339 .
Fu S, Thompson CL, Ali A, Wang W, Chapple JP, Mitchison HM, Beales PL, Wann AKT et al. ( 2019 ) . Mechanical loading inhibits cartilage inflammatory signalling via an HDAC6 and IFT-dependent mechanism regulating primary cilia elongation . Osteoarthritis and Cartilage vol. 27 , ( 7 ) 1064 - 1074 .
CHAPPLE JP, O'TOOLE S, WATSON D, NOVOSELOVA T, ROMANO L, KING PJ, BRADSHAW T, THOMPSON CL et al. ( 2019 ) . Oncometabolite induced primary cilia loss in pheochromocytoma . Endocrine-Related Cancer
Costa ARD, Qarin S, Bradshaw T, Watson D, Prasad R, Metherell LA, Barnes MR, Skarnes W et al. ( 2018 ) . Can novel stem cell models help unpick the pathogenesis of the Triple A syndrome? . Endocrine Abstracts
Gentil BJ, Lai G-T, Menade M, Larivière R, Minotti S, Gehring K, Chapple J-P, Brais B et al. ( 2018 ) . Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics . The FASEB Journal vol. 33 , ( 2 ) 2982 - 2994 .
Da Costa AR, Qarin S, Bradshaw TY, Watson D, Prasad R, Barnes MR, Metherell LA, Chapple JP et al. ( 2018 ) . A Novel Stem Cell Model for the Triple a Syndrome . HORMONE RESEARCH IN PAEDIATRICS . Conference: 57th Annual Meeting of the European Society for Paediatric Endocrinology (ESPE) ( Athens, Greece ) from: 27/09/2018 to: 29/09/2018 , vol. 90 , 29 - 29 .
Parkinson MH, Bartmann AP, Clayton LMS, Nethisinghe S, Pfundt R, Chapple JP, Reilly MM, Manji H et al. ( 2018 ) . Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay . Brain vol. 141 , ( 4 ) 989 - 999 .
Da CAR, Meimaridou E, Prasad R, Metherell LA, Chapple JP, Storr HL ( 2017 ) . Novel evidence implies that ALADIN, the triple A syndrome gene product is involved in mitochondrial physiology . Endocrine Abstracts
Thompson CL, Plant JC, Wann AK, Bishop CL, Novak P, Mitchison HM, Beales PL, Chapple JP et al. ( 2017 ) . Chondrocyte expansion is associated with loss of primary cilia and disrupted hedgehog signalling . Eur Cell Mater vol. 34 , 128 - 141 .
CHAPPLE JP ( 2017 ) . Altered organisation of the intermediate filament cytoskeleton and relocalisation of proteostasis modulators in cells lacking the ataxia protein sacsin . Human Molecular Genetics
Zhang J, Dalbay M, Luo X, Vrij E, Barbieri D, Moroni L, de Bruijn JD, van Blitterswijk CA et al. ( 2017 ) . Topography of calcium phosphate ceramics regulates primary cilia length and TGF receptor recruitment associated with osteogenesis . Acta Biomaterialia
Schwarz N, Lane A, Jovanovic K, Parfitt DA, Aguila M, Thompson CL, da Cruz L, Coffey PJ et al. ( 2017 ) . Arl3 and RP2 regulate the trafficking of ciliary tip kinesins . Hum Mol Genet vol. 26 , ( 13 ) 2480 - 2492 .
Schwarz N, Lane A, Jovanovic K, Parfitt DA, Aguila M, Thompson CL, da Cruz L, Coffey PJ et al. ( 2017 ) . Arl3 and RP2 regulate the trafficking of ciliary tip kinesins. (CORRIGENDUM) . Hum Mol Genet vol. 26 , ( 17 ) 3451 - 3451 .
Thompson CL, Chapple JP, Beales PL, Mitchison HM, Ramachandran M, Knight MM ( 2017 ) . Polycystins are required for primary cilia-mediated mechanotransduction in chondrocytes . INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY . vol. 98 , A14 - A14 .
O'Toole SM, Chapple JP ( 2016 ) . Primary cilia: a link between hormone signalling and endocrine-related cancers? . Biochemical Society Transactions vol. 44 , ( 5 ) 1227 - 1234 .
CHAPPLE JP, Bradshaw TY, Romano LEL, Duncan EJ, Nethisinghe S, Abeti R, Michael GJ, Giunti P et al. ( 2016 ) . A reduction in Drp1 mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay . Human Molecular Genetics vol. 25 , ( 15 ) 3232 - 3244 .
O'Toole S, Srirangalingam U, Drake W, Chapple JP ( 2016 ) . The role of primary cilia in the molecular pathogenesis of phaeochromocytoma . Endocrine Abstracts
Kelly T-AN, Thompson CL, Tan E, Wann AK, Thorpe SD, Chapple JP, Hung CT, Knight MM ( 2016 ) . Chondrocyte dedifferentiation down regulates mechano-responsiveness and hedgehog signalling associated with changes in primary cilia structure . Osteoarthritis and Cartilage . Conference: World Congress of the Osteoarthritis-Research-Society-International (OARSI) on Osteoarthritis from: 31/03/2016 to: 03/04/2016 , vol. 24 , S342 - S343 .
Thompson CL, Patel R, Kelly T-AN, Wann AKT, Hung CT, Chapple JP, Knight MM ( 2015 ) . Hedgehog signalling does not stimulate cartilage catabolism and is inhibited by Interleukin-1β . Arthritis Research & Therapy vol. 17 , ( 1 )
Dalbay MT, Thorpe SD, Connelly JT, Chapple JP, Knight MM ( 2015 ) . Adipogenic Differentiation of hMSCs is Mediated by Recruitment of IGF‐1r Onto the Primary Cilium Associated With Cilia Elongation . Stem Cells vol. 33 , ( 6 ) 1952 - 1961 .
Blumkin L, Bradshaw T, Michelson M, Kopler T, Dahari D, Lerman-Sagie T, Lev D, Chapple JP et al. ( 2015 ) . Molecular and functional studies of retinal degeneration as a clinical presentation of SACS-related disorder . European Journal of Paediatric Neurology vol. 19 , ( 4 ) 472 - 476 .
Thompson CL, Wann AKT, Chapple JP, Poole CA, Knight MM ( 2015 ) . Competitive interactions between hedgehog and cytokine signalling: crosstalk at the chondrocyte primary cilium? . INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY vol. 96 , ( 2 ) A8 - A8 .
Athanasiou D, Bevilacqua D, Aguila M, McCulley C, Kanuga N, Iwawaki T, Chapple JP, Cheetham ME ( 2014 ) . The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control . Hum Mol Genet vol. 23 , ( 24 ) 6594 - 6606 .
Duncan EJ, Cheetham ME, Chapple JP, van der Spuy J ( 2014 ) . The Role of HSP70 and Its Co-chaperones in Protein Misfolding, Aggregation and Disease . Subcellular Biochemistry vol. 78 , 243 - 273 .
Wann AKT, Chapple JP, Knight MM ( 2014 ) . The primary cilium influences interleukin-1β-induced NFκB signalling by regulating IKK activity . Cell Signal vol. 26 , ( 8 ) 1735 - 1742 .
Thompson CL, Chapple JP, Knight MM ( 2014 ) . Primary cilia disassembly down-regulates mechanosensitive hedgehog signalling: a feedback mechanism controlling ADAMTS-5 expression in chondrocytes . Osteoarthritis Cartilage vol. 22 , ( 3 ) 490 - 498 .
Thompson CL, Chapple JP, Knight MM ( 2014 ) . Primary cilia disassembly down regulates mechanosensitive hedgehog signalling: a feedback mechanism controlling ADAMTS-5 expression in chondrocytes . INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY . vol. 95 , A32 - A32 .
Wann AKT, Thompson CL, Chapple JP, Knight MM ( 2014 ) . The chondrocyte cilium; a locality for HIF regulation in inflammatory signalling . INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY . vol. 95 , A36 - A36 .
Wann AKT, Chapple JP, Knight MM ( 2014 ) . The chondrocyte primary cilium is required for IL-1 induced NF-κβ signalling . INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY . vol. 95 , A35 - A36 .
Wann AK, Thompson CL, Chapple JP, Knight MM ( 2013 ) . Interleukin-1β sequesters hypoxia inducible factor 2α to the primary cilium . Cilia vol. 2 , ( 1 )
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL et al. ( 2013 ) . Familial glucocorticoid deficiency: New genes and mechanisms . Molecular and Cellular Endocrinology vol. 371 , ( 1-2 ) 195 - 200 .
Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL et al. ( 2013 ) . Familial glucocorticoid deficiency: New genes and mechanisms . Mol Cell Endocrinol vol. 371 , ( 1-2 ) 195 - 200 .
Prodromou NV, Thompson CL, Osborn DPS, Cogger KF, Ashworth R, Knight MM, Beales PL, Chapple JP ( 2012 ) . Heat shock induces rapid resorption of primary cilia . Development vol. 139 , ( 24 ) e2408 - e2408 .
Chapple JP, Parfitt DA, Campbell DC ( 2012 ) . Hsp70 Chaperone Systems in Vesicular Trafficking . Cellular Trafficking of Cell Stress Proteins in Health and Disease , vol. 6 , Springer Nature
Thompson C, Prodromou N, Osborn D, Ashworth R, Knight M, Beales P, Chapple J ( 2012 ) . Heat-shock induces rapid resorption of primary cilia . Cilia vol. 1 , ( Suppl 1 )
Thompson C, Chapple J, Knight M ( 2012 ) . Mechanical strain disrupts primary cilia structure and modulates hedgehog signalling in adult chondrocytes . Cilia vol. 1 , ( Suppl 1 )
Prodromou NV, Thompson CL, Osborn DPS, Cogger KF, Ashworth R, Knight MM, Beales PL, Chapple JP ( 2012 ) . Heat shock induces rapid resorption of primary cilia . J Cell Sci vol. 125 , ( Pt 18 ) 4297 - 4305 .
Athanasiou D, Kosmaoglou M, Kanuga N, Novoselov SS, Paton AW, Paton JC, Chapple JP, Cheetham ME ( 2012 ) . BiP prevents rod opsin aggregation . Mol Biol Cell vol. 23 , ( 18 ) 3522 - 3531 .
Chahal HS, Trivellin G, Leontiou CA, Alband N, Fowkes RC, Tahir A, Igreja SC, Chapple JP et al. ( 2012 ) . Somatostatin analogs modulate AIP in somatotroph adenomas: the role of the ZAC1 pathway . J Clin Endocrinol Metab vol. 97 , ( 8 ) E1411 - E1420 .
Meimaridou E, Kowalczyk J, Guasti L, Hughes CR, Wagner F, Frommolt P, Nürnberg P, Mann NP et al. ( 2012 ) . Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency . Nat Genet vol. 44 , ( 7 ) 740 - 742 .
Giunti P, Nethisinghe S, Clayton LM, Vermeer S, Chapple JP, Reilly MM, Bremner F ( 2012 ) . 002 Detecting retinal changes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) using optical coherence tomography (OCT) . Journal of Neurology Neurosurgery & Psychiatry . vol. 83 ,
Thompson CL, Prodromou NV, Osborn DP, Ashworth R, Knight MM, Beales PL, Chapple JP ( 2012 ) . Heat-shock induces rapid resorption of primary cilia . Cilia vol. 1 , ( Suppl 1 ) P52 - P52 .
Thompson CL, Chapple JP, Knight MM ( 2012 ) . MECHANICAL STRAIN STIMULATES HEDGEHOG SIGNALLING IN ADULT ARTICULAR CHONDROCYTES AND REDUCES PRIMARY CILIA LENGTH . OSTEOARTHRITIS AND CARTILAGE . vol. 20 , S242 - S242 .
Thompson CL, Chapple JP, Knight MM ( 2012 ) . Mechanical strain reduces primary cilia length and stimulates hedgehog signalling in adult chondrocytes . INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY . vol. 93 , A20 - A20 .
Girard M, Lariviere R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G et al. ( 2012 ) . Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) . PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA vol. 109 , ( 5 ) 1661 - 1666 .
Parkinson MH, Nethisinghe S, Clayton L, Vermeer S, Chapple JP, Reilly M, Bremner F, Giunti P ( 2012 ) . Retinal changes in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) and other genetic ataxias . MOVEMENT DISORDERS . vol. 27 , S190 - S190 .
Meimaridou E, Gooljar SB, Ramnarace N, Anthonypillai L, Clark AJL, Chapple JP ( 2011 ) . The cytosolic chaperone Hsc70 promotes traffic to the cell surface of intracellular retained melanocortin-4 receptor mutants . Mol Endocrinol vol. 25 , ( 9 ) 1650 - 1660 .
Nethisinghe S, Clayton L, Vermeer S, Chapple JP, Reilly M, Bremner F, Giunti P ( 2011 ) . Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay . NEURO-OPHTHALMOLOGY vol. 35 , ( 4 ) 197 - 201 .
Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G et al. ( 2010 ) . Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families . Hum Mutat vol. 31 , ( 8 ) 950 - 960 .
Chahal HS, Chapple JP, Frohman LA, Grossman AB, Korbonits M ( 2010 ) . Clinical, genetic and molecular characterization of patients with familial isolated pituitary adenomas (FIPA) . Trends Endocrinol Metab vol. 21 , ( 7 ) 419 - 427 .
Wilkins S, Choglay AA, Chapple JP, van der Spuy J, Rhie A, Birkett CR, Cheetham ME ( 2010 ) . The binding of the molecular chaperone Hsc70 to the prion protein PrP is modulated by pH and copper . The International Journal of Biochemistry & Cell Biology vol. 42 , ( 7 ) 1226 - 1232 .
Sen Gupta P, Prodromou NV, Chapple JP ( 2009 ) . Can faulty antennae increase adiposity? The link between cilia proteins and obesity . J Endocrinol vol. 203 , ( 3 ) 327 - 336 .
Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A, Clark AJL ( 2009 ) . Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism . Mol Endocrinol vol. 23 , ( 12 ) 2086 - 2094 .
Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A, Clark AJL ( 2009 ) . Deficiency of Ferritin Heavy-Chain Nuclear Import in Triple A Syndrome Implies Nuclear Oxidative Damage as the Primary Disease Mechanism . The Journal of Clinical Endocrinology & Metabolism vol. 94 , ( 11 ) 4626 - 4626 .
Parfitt DA, Michael GJ, Vermeulen EGM, Prodromou NV, Webb TR, Gallo J-M, Cheetham ME, Nicoll WS et al. ( 2009 ) . The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1 . Hum Mol Genet vol. 18 , ( 9 ) 1556 - 1565 .
Chan LF, Webb TR, Chung T-T, Meimaridou E, Cooray SN, Guasti L, Chapple JP, Egertová M et al. ( 2009 ) . MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family . Proc Natl Acad Sci U S A vol. 106 , ( 15 ) 6146 - 6151 .
Webb TR, Chan L, Cooray SN, Cheetham ME, Chapple JP, Clark AJL ( 2009 ) . Distinct melanocortin 2 receptor accessory protein domains are required for melanocortin 2 receptor interaction and promotion of receptor trafficking . Endocrinology vol. 150 , ( 2 ) 720 - 726 .
Leontiou CA, Gueorguiev M, Hassan S, van der Spuy J, Lolli F, Stolbrink M, Christian HC, Wray J et al. ( 2009 ) . AIP, a Protein Mutated in Familial Acromegaly, Plays a Role in the Regulation of Cell Proliferation and Shows Cell-Type Specific Subcellular Localisation . HORMONE RESEARCH . vol. 71 , 149 - 150 .
Meimaridou E, Gooljar SB, Chapple JP ( 2009 ) . From hatching to dispatching: the multiple cellular roles of the Hsp70 molecular chaperone machinery . J Mol Endocrinol vol. 42 , ( 1 ) 1 - 9 .
Chapple JP, Bros-Facer V, Butler R, Gallo JM ( 2008 ) . Focal distortion of the nuclear envelope by huntingtin aggregates revealed by lamin immunostaining . NEUROSCI LETT vol. 447 , ( 2-3 ) 172 - 174 .
Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP, Clark AJL ( 2008 ) . The Majority of Adrenocorticotropin Receptor (Melanocortin 2 Receptor) Mutations Found in Familial Glucocorticoid Deficiency Type 1 Lead to Defective Trafficking of the Receptor to the Cell Surface . J CLIN ENDOCR METAB vol. 93 , ( 12 ) 4948 - 4954 .
Leontiou CA, Gueorguiev M, van der Spuy J, Quinton R, Lolli F, Hassan S, Chahal HS, Igreja SC et al. ( 2008 ) . The role of the aryl hydrocarbon receptor-interacting protein gene in familial and sporadic pituitary adenomas . J Clin Endocrinol Metab vol. 93 , ( 6 ) 2390 - 2401 .
Cooray SN, Almiro Do Vale I, Leung K-Y, Webb TR, Chapple JP, Egertová M, Cheetham ME, Elphick MR et al. ( 2008 ) . The melanocortin 2 receptor accessory protein exists as a homodimer and is essential for the function of the melanocortin 2 receptor in the mouse y1 cell line . Endocrinology vol. 149 , ( 4 ) 1935 - 1941 .
CHAPPLE JP, Gallo JM, Cooper TA, Dev A, Martin TR, Anthony K ( 2007 ) . Expression, localization and Tau Exon 10 splicing activity of the brain RNA-binding protein TNRC4 . Human Molecular Genetics vol. 16 , ( 22 ) 2760 - 2769 .
CHAPPLE JP, Dev A, Anthony K, Cooper TA, Rodriguez-Martin T, Gallo J-M ( 2007 ) . Expression, localization and tau exon 10 splicing activity of the brain RNA-binding protein TNRC4 . Human Molecular Genetics vol. 16 , ( 22 ) 2760 - 2769 .
Howarth JL, Kelly S, Keasey MP, Glover C, Lee Y-B, Mitrophanous K, Chapple JP, Gallo JM et al. ( 2007 ) . Hsp40 Molecules That Target to the Ubiquitin-proteasome System Decrease Inclusion Formation in Models of Polyglutamine Disease . Mol Ther vol. 15 , ( 6 ) 1100 - 1105 .
Howarth JL, Kelly S, Keasey MP, Glover CPJ, Lee YB, Mitrophanous K, Chapple JP, Gallo JM et al. ( 2007 ) . Hsp40 molecules that target to the ubiquitin-proteasome system decrease inclusion formation in models of polyglutamine disease . MOL THER vol. 15 , ( 6 ) 1100 - 1105 .
Hooper C, Chapple JP, Lovestone S, Killick R ( 2007 ) . The Notch-1 intracellular domain is found in sub-nuclear bodies in SH-SY5Y neuroblastomas and in primary cortical neurons . NEUROSCI LETT vol. 415 , ( 2 ) 135 - 139 .
Nicoll WS, Botha M, McNamara C, Schlange M, Pesce ER, Boshoff A, Ludewig MH, Zimmermann R et al. ( 2007 ) . Cytosolic and ER J-domains of mammalian and parasitic origin can functionally interact with DnaK . INT J BIOCHEM CELL B vol. 39 , ( 4 ) 736 - 751 .
Hooper C, Tavassoli M, Chapple JP, Uwanogho D, Goodyear R, Melino G, Lovestone S, Killick R ( 2006 ) . TAp73 isoforms antagonize Notch signalling in SH-SY5Y neuroblastomas and in primary neurones . J NEUROCHEM vol. 99 , ( 3 ) 989 - 999 .
Storr H, Koehler K, Huebner A, Chapple JP, Clark AJL ( 2006 ) . A candidate interacting protein for the nuclear pore protein ALADIN: a potential pathogenic mechanism for the triple A syndrome . HORM RES vol. 65 , 16 - 16 .
CHAPPLE JP, Adamson P, Matter K, Bailey TA, Hardcastle AJ, Grayson C ( 2006 ) . Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting . Biochem J vol. 372 , ( pt 2 ) 427 - 433 .
Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP et al. ( 2005 ) . Erratum: Corrigendum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates . Nature Genetics vol. 37 , ( 12 ) 1381 - 1381 .
CHAPPLE JP, Fisher S, Tan PL, Phillips HM, Leitch CC, Eliot MM, Copp AJ, Katsanis N et al. ( 2005 ) . Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates . Nature Genetics vol. 37 , ( 10 ) 1135 - 1140 .
CHAPPLE JP, Cheetham ME, Westhoff B, Van Der Spuy SJ, Hohfeld J ( 2005 ) . HSJ1 Is a Neuronal Shuttling Factor for the Sorting of Chaperone Clients to the Proteasome . Current Biology vol. 15 , ( 11 ) 1058 - 1064 .
David A, CHAPPLE JP, Cooray S, Metherell LA, Ruschendorf F, Becker C ( 2005 ) . Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2 . Nature Genetics vol. 37 , ( 2 ) 166 - 170 .
Evans RJ, Chapple JP, Grayson C, Hardcastle AJ, Cheetham ME ( 2005 ) . Assay and functional analysis of the ARL3 effector RP2 involved in X-linked retinitis pigmentosa . Methods Enzymol vol. 404 , 468 - 480 .
CHAPPLE JP, Banerjee R, Gaasenbeek M, Cheetham ME, Ocaka L, Inglis-Broadgate SL ( 2005 ) . Isolation and characterization of murine Cds (CDP-diacylglycerol synthase) 1 and 2 . Gene vol. 356 , 19 - 31 .
CHAPPLE JP, Cheetham ME, Van Der SJ, Mendes HF ( 2005 ) . Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy . Trends Mol Med vol. 11 , ( 4 ) 177 - 185 .
Longshaw VM, Chapple JP, Balda MS, Cheetham ME, Blatch GL ( 2004 ) . Nuclear translocation of the Hsp70/Hsp90 organizing protein mSTI1 is regulated by cell cycle kinases . Journal of Cell Science vol. 117 , ( 5 ) 701 - 710 .
CHAPPLE JP, Holder GE, Egan CA, Grayson C, Dandekar SS, Ebenezer ND ( 2004 ) . An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene . Br. J Opthalmol vol. 88 , ( 4 ) 528 - 532 .
CHAPPLE JP, Cheetham ME, Poopalasundaram S, Van Der SJ ( 2004 ) . Neuronal DnaJ proteins HSJ1a and HSJ1b: a role in linking the Hsp70 chaperone machine to the ubiquitin-proteasome system? . Biochem Soc Trans vol. 32 , ( pt4 ) 640 - 642 .
CHAPPLE JP, Cheetham ME, Blatch GL, Longshaw VM, Balda MS ( 2004 ) . Nuclear translocation of the Hsp70/Hsp90 organizing protein mSTI1 is regulated by cell cycle kinases . J Cell Sci vol. 117 , ( pt 5 ) 701 - 710 .
Chapple JP, Cheetham ME ( 2003 ) . The chaperone environment at the cytoplasmic face of the endoplasmic reticulum can modulate rhodopsin processing and inclusion formation . J Biol Chem vol. 278 , ( 21 ) 19087 - 19094 .
CHAPPLE JP, Cheetham ME ( 2003 ) . The Chaperone Environment at the Cytoplasmic Face of the Endoplasmic Reticulum Can Modulate Rhodopsin Processing and Inclusion Formation . Journal of Biological Chemistry vol. 278 , ( 21 ) 19087 - 19094 .
Chapple JP, Hardcastle AJ, Grayson C, Willison KR, Cheetham ME ( 2002 ) . Delineation of the plasma membrane targeting domain of the X-linked retinitis pigmentosa protein RP2 . Invest Ophthalmol Vis Sci vol. 43 , ( 6 ) 2015 - 2020 .
van der Spuy J, Chapple JP, Clark BJ, Luthert PJ, Sethi CS, Cheetham ME ( 2002 ) . The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina . Hum Mol Genet vol. 11 , ( 7 ) 823 - 831 .
CHAPPLE JP, Willison KR, Grayson C, Cheetham ME, Hardcastle AJ, Webster AR ( 2002 ) . In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients . J Med Genet vol. 39 , ( 1 ) 62 - 67 .
CHAPPLE JP, Lewis SA, Willison KR, Bartolini F, Bhamidipati A, Grayson C ( 2002 ) . Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3 . Hum Mol Genet vol. 11 , ( 24 ) 3065 - 3074 .
CHAPPLE JP, Cheetham ME, Blatch GL, Choglay AA ( 2001 ) . Identification and characterization of a human mitochondrial homologue of the bacterial co-chaperone GrpE . Gene vol. 267 , ( 1 ) 125 - 134 .
CHAPPLE JP, Grayson C, Saliba RS, Hardcastle AJ, Van Der SJ, Cheetham ME ( 2001 ) . Unfolding retinal dystrophies: a role for molecular chaperones? . Trends Mol Med vol. 7 , ( 9 ) 414 - 421 .
Chapple JP, Hardcastle AJ, Grayson C, Spackman LA, Willison KR, Cheetham ME ( 2000 ) . Mutations in the N-terminus of the X-linked retinitis pigmentosa protein RP2 interfere with the normal targeting of the protein to the plasma membrane . Human Molecular Genetics vol. 9 , ( 13 ) 1919 - 1926 .
Chapple JP, Hardcastle AJ, Kurzik-Dumke U, Collier DA, Cheetham ME ( 1999 ) . Assignment<footref rid="foot01">1</footref> of the neuronal cochaperone, HSJ1, to human chromosome bands 2q32→q34 between D2S295 and D2S339 by in situ hybridization and somatic cell and radiation hybrids . Cytogenetic and Genome Research vol. 86 , ( 1 ) 62 - 63 .
Chapple JP, Smerdon GR, Berry RJ, Hawkins AJS ( 1998 ) . Seasonal changes in stress-70 protein levels reflect thermal tolerance in the marine bivalve Mytilus edulis L . Journal of Experimental Marine Biology and Ecology vol. 229 , ( 1 ) 53 - 68 .
Chapple JP, Smerdon GR, Hawkins AJS ( 1997 ) . Stress-70 protein induction in Mytilus edulis: Tissue-specific responses to elevated temperature reflect relative vulnerability and physiological function . Journal of Experimental Marine Biology and Ecology vol. 217 , ( 2 ) 225 - 235 .
Smerdon GR, Chapple JP, Hawkins AJS ( 1995 ) . The simultaneous immunological detection of four stress-70 protein isoforms in Mytilus edulis . Marine Environmental Research vol. 40 , ( 4 ) 399 - 407 .
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