Publications:  Prof James Chapple

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.

Gentil BJ, Lai G-T, Menade M, Larivière R, Minotti S, Gehring K, Chapple J-P, Brais B et al.(2019). Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics. FASEB J vol. 33, (2) 2982-2994.

O¿Toole SM, Watson DS, Novoselova TV, Romano LEL, King PJ, Bradshaw TY, Thompson CL, Knight MM et al.(2019). Oncometabolite induced primary cilia loss in pheochromocytoma. Endocrine-Related Cancer vol. 26, (1) 165-180.

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.

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.

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)

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. Eur J Paediatr Neurol 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.

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.

Duncan EJ, Cheetham ME, Chapple JP, van der Spuy J(2015). The role of HSP70 and its co-chaperones in protein misfolding, aggregation and disease. Subcell Biochem vol. 78, 243-273.

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.

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. 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-kappa beta signalling. INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY. vol. 95, A35-A36.

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.

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. 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.

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.

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.

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, 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.

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.

Giunti P, Nethisinghe S, Clayton LM, Vermeer S, Chapple JP, Reilly MM, Bremner F (2012). DETECTING RETINAL CHANGES IN AUTOSOMAL RECESSIVE SPASTIC ATAXIA OF CHARLEVOIX-SAGUENAY (ARSACS) USING OPTICAL COHERENCE TOMOGRAPHY (OCT). JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY. vol. 83,

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.

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.

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.

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.

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.

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.