Perna L, Castelli M, Frasnetti E, Romano LEL, Colombo G, Prodromou C and 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, 10.3389/fmolb.2022.1074714

Prodromou C, Aran-Guiu X, Oberoi J, Perna L, Chapple JP and van der Spuy J (2023). HSP70-HSP90 Chaperone Networking in Protein-Misfolding Disease. 10.1007/978-3-031-14740-1_13

Tufton N, Hearnden RJ, Berney DM, Drake WM, Parvanta L, Chapple JP and Akker SA (2022). The immune cell infiltrate in the tumour microenvironment of phaeochromocytomas and paragangliomas. Endocrine-Related Cancer  vol. 29, (11) 589-598. 10.1530/ERC-22-0020

Romano LEL, Aw WY, Hixson KM, Novoselova TV, Havener TM, Howell S, Taylor-Blake B, Hall CL, Xing L, Beri J, Nethisinghe S, Perna L, Hatimy A, Altadonna GC, Graves LM, Herring LE, Hickey AJ, Thalassinos K, Chapple JP and Wolter JM (2022). Multi-omic profiling reveals the ataxia protein sacsin is required for integrin trafficking and synaptic organization. Cell Reports  vol. 41, (5) 10.1016/j.celrep.2022.111580

Sladen PE, Jovanovic K, Guarascio R, Ottaviani D, Salsbury G, Novoselova T, Chapple JP, Yu-Wai-Man P and Cheetham ME (2022). Modelling autosomal dominant optic atrophy associated with OPA1 variants in iPSC-derived retinal ganglion cells. Hum Mol Genet  vol. 31, (20) 3478-3493. 10.1093/hmg/ddac128

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, Chapple JP, Simeoni LA and Lofrano-Porto A (2022). Antiproliferative effects of metformin in cellular models of pheochromocytoma. Molecular and Cellular Endocrinology  vol. 539, 10.1016/j.mce.2021.111484

Sladen PE, Perdigão PRL, Salsbury G, Novoselova T, van der Spuy J, Chapple JP, Yu-Wai-Man P and 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. 10.1016/j.omtn.2021.08.015

Callender LA, Schroth J, Carroll EC, Garrod-Ketchley C, Romano LEL, Hendy E, Kelly A, Lavender P, Akbar AN, Chapple JP and Henson S (2021). GATA3 induces mitochondrial biogenesis in primary human CD4+ T cells during DNA damage. Nature Research (Part of Springer Nature)  Nature Communications  10.1038/s41467-021-23715-7

Thompson C, Mcfie M, Chapple J, BEALES P and Knight M (2021). Polycystin-2 is required for chondrocyte mechanotransduction and traffics to the primary cilium in response to mechanical stimulation. Mdpi Ag  International Journal of Molecular Sciences  10.3390/ijms22094313

Desai R, East DA, Hardy L, Faccenda D, Rigon M, Crosby J, Alvarez MS, Singh A, Mainenti M, Hussey LK, Bentham R, Szabadkai G, Zappulli V, Dhoot GK, Romano LE, Xia D, Coppens I, Hamacher-Brady A, Paul Chapple J, Abeti R, Fleck RA, Vizcay-Barrena G, Smith K and Campanella M (2020). Mitochondria form contact sites with the nucleus to couple prosurvival retrograde response. Science Advances  vol. 6, (51) 10.1126/SCIADV.ABC9955

Athanasiou D, Bevilacqua D, Aguila M, McCulley C, Kanuga N, Iwawaki T, Chapple JP and Cheetham ME (2020). Erratum: The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control (Human Molecular Genetics, (2014) 23: 24 (6594-6606) DOI: 10.1093/hmg/ddu385). Human Molecular Genetics  vol. 29, (19) 3338-3339. 10.1093/hmg/ddaa190

Gentil BJ, Lai GT, Menade M, Larivière R, Minotti S, Gehring K, Chapple JP, Brais B and Durham HD (2019). Sacsin, mutated in the ataxia ARSACS, regulates intermediate filament assembly and dynamics. Faseb Journal  vol. 33, (2) 2982-2994. 10.1096/fj.201801556R

O’Toole SM, Watson DS, Novoselova TV, Romano LEL, King PJ, Bradshaw TY, Thompson CL, Knight MM, Sharp TV, Barnes MR, Srirangalingam U, Drake WM and Chapple JP (2019). Oncometabolite induced primary cilia loss in pheochromocytoma. Endocrine-Related Cancer  vol. 26, (1) 165-180. 10.1530/ERC-18-0134

Costa ARD, Qarin S, Bradshaw T, Watson D, Prasad R, Metherell LA, Barnes MR, Skarnes W, Chapple JP and Storr HL (2018). Can novel stem cell models help unpick the pathogenesis of the Triple A syndrome? Endocrine Abstracts  10.1530/endoabs.58.oc5.3

Parkinson MH, Bartmann AP, Clayton LMS, Nethisinghe S, Pfundt R, Chapple JP, Reilly MM, Manji H, Wood NJ, Bremner F and Giunti P (2018). Optical coherence tomography in autosomal recessive spastic ataxia of Charlevoix-Saguenay. Brain  vol. 141, (4) 989-999. 10.1093/brain/awy028

Da CAR, Meimaridou E, Prasad R, Metherell LA, Chapple JP and Storr HL (2017). Novel evidence implies that ALADIN, the triple A syndrome gene product is involved in mitochondrial physiology. Endocrine Abstracts  10.1530/endoabs.51.oc5.3

Thompson CL, Plant JC, Wann AK, Bishop CL, Novak P, Mitchison HM, Beales PL, Chapple JP and Knight MM (2017). Chondrocyte expansion is associated with loss of primary cilia and disrupted hedgehog signalling. Eur Cell Mater  vol. 34, 128-141. 10.22203/eCM.v034a09

Zhang J, Dalbay MT, Luo X, Vrij E, Barbieri D, Moroni L, de Bruijn JD, van Blitterswijk CA, Chapple JP, Knight MM and Yuan H (2017). Topography of calcium phosphate ceramics regulates primary cilia length and TGF receptor recruitment associated with osteogenesis. Acta Biomater  vol. 57, 487-497. 10.1016/j.actbio.2017.04.004

CHAPPLE JP (2017). Altered organisation of the intermediate filament cytoskeleton and relocalisation of proteostasis modulators in cells lacking the ataxia protein sacsin. Oxford University Press  Human Molecular Genetics  10.1093/hmg/ddx197

Schwarz N, Lane A, Jovanovic K, Parfitt DA, Aguila M, Thompson CL, da Cruz L, Coffey PJ, Chapple JP, Hardcastle AJ and Cheetham ME (2017). Arl3 and RP2 regulate the trafficking of ciliary tip kinesins. Oxford University Press  Hum Mol Genet  vol. 26, (13) 2480-2492. 10.1093/hmg/ddx143

Schwarz N, Lane A, Jovanovic K, Parfitt DA, Aguila M, Thompson CL, da Cruz L, Coffey PJ, Chapple JP, Hardcastle AJ and Cheetham ME (2017). Arl3 and RP2 regulate the trafficking of ciliary tip kinesins. (CORRIGENDUM). Oxford University Press  Hum Mol Genet  vol. 26, (17) 3451-3451. 10.1093/hmg/ddx245

O'Toole SM and Chapple JP (2016). Primary cilia: A link between hormone signalling and endocrine-related cancers. Biochemical Society Transactions  vol. 44, (5) 1227-1234. 10.1042/BST20160149

CHAPPLE JP, Bradshaw TY, Romano LEL, Duncan EJ, Nethisinghe S, Abeti R, Michael GJ, Giunti P and Vermeer S (2016). A reduction in Drp1 mediated fission compromises mitochondrial health in autosomal recessive spastic ataxia of Charlevoix Saguenay. Oxford University Press (Oup): Policy B - Oxford Open Option B  Human Molecular Genetics  vol. 25, (15) 3232-3244. 10.1093/hmg/ddw173

O'Toole S, Srirangalingam U, Drake W and Chapple JP (2016). The role of primary cilia in the molecular pathogenesis of phaeochromocytoma. Endocrine Abstracts  10.1530/endoabs.41.gp1

Thompson CL, Patel R, Kelly T-AN, Wann AKT, Hung CT, Chapple JP and Knight MM (2015). Hedgehog signalling does not stimulate cartilage catabolism and is inhibited by Interleukin-1β. Arthritis Research & Therapy  vol. 17, (1) 10.1186/s13075-015-0891-z

Blumkin L, Bradshaw T, Michelson M, Kopler T, Dahari D, Lerman-Sagie T, Lev D, Chapple JP and Leshinsky-Silver E (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. 10.1016/j.ejpn.2015.02.005

Dalbay MT, Thorpe SD, Connelly JT, Chapple JP and 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. 10.1002/stem.1975

Duncan EJ, Cheetham ME, Chapple JP and Van Der Spuy J (2015). The role of HSP70 and its co-chaperones in protein misfolding, aggregation and disease. Subcellular Biochemistry  vol. 78, 243-273. 10.1007/978-3-319-11731-7_12

Thompson CL, Wann AKT, Chapple JP, Poole CA and 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 and Cheetham ME (2014). The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control. Hum Mol Genet  vol. 23, (24) 6594-6606. 10.1093/hmg/ddu385

Wann AKT, Chapple JP and Knight MM (2014). The primary cilium influences interleukin-1β-induced NFκB signalling by regulating IKK activity. Cell Signal  vol. 26, (8) 1735-1742. 10.1016/j.cellsig.2014.04.004

Thompson CL, Chapple JP and 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. 10.1016/j.joca.2013.12.016

Wann AK, Thompson CL, Chapple JP and Knight MM (2013). Interleukin-1β sequesters hypoxia inducible factor 2α to the primary cilium. Cilia  vol. 2, (1) 10.1186/2046-2530-2-17

Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL and Metherell LA (2013). Familial glucocorticoid deficiency: New genes and mechanisms. Mol Cell Endocrinol  vol. 371, (1-2) 195-200. 10.1016/j.mce.2012.12.010

Meimaridou E, Hughes CR, Kowalczyk J, Guasti L, Chapple JP, King PJ, Chan LF, Clark AJL and Metherell LA (2013). Familial glucocorticoid deficiency: New genes and mechanisms. Molecular and Cellular Endocrinology  vol. 371, (1-2) 195-200. 10.1016/j.mce.2012.12.010

Prodromou NV, Thompson CL, Osborn DPS, Cogger KF, Ashworth R, Knight MM, Beales PL and Chapple JP (2012). Heat shock induces rapid resorption of primary cilia. Development  vol. 139, (24) e2408-e2408. 10.1242/dev.091405

Prodromou NV, Thompson CL, Osborn DPS, Cogger KF, Ashworth R, Knight MM, Beales PL and Chapple JP (2012). Heat shock induces rapid resorption of primary cilia. Journal of Cell Science  vol. 125, (18) 4297-4305. 10.1242/jcs.100545

Chapple JP, Parfitt DA and Campbell DC (2012). Hsp70 Chaperone Systems in Vesicular Trafficking. Cellular Trafficking of Cell Stress Proteins in Health and Disease  10.1007/978-94-007-4740-1_6

Thompson C, Prodromou N, Osborn D, Ashworth R, Knight M, Beales P and Chapple J (2012). Heat-shock induces rapid resorption of primary cilia. Cilia  vol. 1, (Suppl 1) 10.1186/2046-2530-1-s1-p52

Athanasiou D, Kosmaoglou M, Kanuga N, Novoselov SS, Paton AW, Paton JC, Chapple JP and Cheetham ME (2012). BiP prevents rod opsin aggregation. Mol Biol Cell  vol. 23, (18) 3522-3531. 10.1091/mbc.E12-02-0168

Chahal HS, Trivellin G, Leontiou CA, Alband N, Fowkes RC, Tahir A, Igreja SC, Chapple JP, Jordan S, Lupp A, Schulz S, Ansorge O, Karavitaki N, Carlsen E, Wass JAH, Grossman AB and Korbonits M (2012). Somatostatin analogs modulate AIP in somatotroph adenomas: the role of the ZAC1 pathway. J Clin Endocrinol Metab  vol. 97, (8) E1411-E1420. 10.1210/jc.2012-1111

Meimaridou E, Kowalczyk J, Guasti L, Hughes CR, Wagner F, Frommolt P, Nürnberg P, Mann NP, Banerjee R, Saka HN, Chapple JP, King PJ, Clark AJL and Metherell LA (2012). Mutations in NNT encoding nicotinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet  vol. 44, (7) 740-742. 10.1038/ng.2299

Girard M, Lariviere R, Parfitt DA, Deane EC, Gaudet R, Nossova N, Blondeau F, Prenosil G, Vermeulen EGM, Duchen MR, Richter A, Shoubridge EA, Gehring K, McKinney RA, Brais B, Chapple JP and McPherson PS (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. 10.1073/pnas.1113166109

Thompson CL, Chapple JP and Knight MM (2012). Mechanical strain disrupts primary cilia structure and modulates hedgehog signalling in adult chondrocytes. Cilia  vol. 1, (Suppl 1) P53-P53. 10.1186/2046-2530-1-s1-p53

Thompson CL, Prodromou NV, Osborn DP, Ashworth R, Knight MM, Beales PL and Chapple JP (2012). Heat-shock induces rapid resorption of primary cilia. Cilia  vol. 1, (Suppl 1) P52-P52.

Meimaridou E, Gooljar SB, Ramnarace N, Anthonypillai L, Clark AJL and 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. 10.1210/me.2011-1020

Nethisinghe S, Clayton L, Vermeer S, Chapple JP, Reilly M, Bremner F and Giunti P (2011). Retinal Imaging in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay. Neuro-Ophthalmology  vol. 35, (4) 197-201. 10.3109/01658107.2011.595043

Igreja S, Chahal HS, King P, Bolger GB, Srirangalingam U, Guasti L, Chapple JP, Trivellin G, Gueorguiev M, Guegan K, Stals K, Khoo B, Kumar AV, Ellard S, Grossman AB, Korbonits M and International FIPA Consortium (2010). Characterization of aryl hydrocarbon receptor interacting protein (AIP) mutations in familial isolated pituitary adenoma families. Hum Mutat  vol. 31, (8) 950-960. 10.1002/humu.21292

Wilkins S, Choglay AA, Chapple JP, van der Spuy J, Rhie A, Birkett CR and Cheetham ME (2010). The binding of the molecular chaperone Hsc70 to the prion protein PrP is modulated by pH and copper. International Journal of Biochemistry and Cell Biology  vol. 42, (7) 1226-1232. 10.1016/j.biocel.2010.04.013

Chahal HS, Chapple JP, Frohman LA, Grossman AB and Korbonits M (2010). Clinical, genetic and molecular characterization of patients with familial isolated pituitary adenomas (FIPA). Trends Endocrinol Metab  vol. 21, (7) 419-427. 10.1016/j.tem.2010.02.007

Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A and 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. 10.1210/me.2009-0056

Sen Gupta P, Prodromou NV and Chapple JP (2009). Can faulty antennae increase adiposity? The link between cilia proteins and obesity. J Endocrinol  vol. 203, (3) 327-336. 10.1677/JOE-09-0116

Storr HL, Kind B, Parfitt DA, Chapple JP, Lorenz M, Koehler K, Huebner A and 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. 10.1210/jcem.94.11.9995

Parfitt DA, Michael GJ, Vermeulen EGM, Prodromou NV, Webb TR, Gallo J-M, Cheetham ME, Nicoll WS, Blatch GL and Chapple JP (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. 10.1093/hmg/ddp067

Chan LF, Webb TR, Chung T-T, Meimaridou E, Cooray SN, Guasti L, Chapple JP, Egertová M, Elphick MR, Cheetham ME, Metherell LA and Clark AJL (2009). MRAP and MRAP2 are bidirectional regulators of the melanocortin receptor family. Proc Natl Acad Sci U S A  vol. 106, (15) 6146-6151. 10.1073/pnas.0809918106

Webb TR, Chan L, Cooray SN, Cheetham ME, Chapple JP and 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. 10.1210/en.2008-0941

Meimaridou E, Gooljar SB and 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. 10.1677/JME-08-0116

Chapple JP, Bros-Facer V, Butler R and Gallo JM (2008). Focal distortion of the nuclear envelope by huntingtin aggregates revealed by lamin immunostaining. Neurosci Lett  vol. 447, (2-3) 172-174. 10.1016/j.neulet.2008.09.075

Chung TT, Webb TR, Chan LF, Cooray SN, Metherell LA, King PJ, Chapple JP and 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 Endocrinol Metab  vol. 93, (12) 4948-4954. 10.1210/jc.2008-1744

Leontiou CA, Gueorguiev M, van der Spuy J, Quinton R, Lolli F, Hassan S, Chahal HS, Igreja SC, Jordan S, Rowe J, Stolbrink M, Christian HC, Wray J, Bishop-Bailey D, Berney DM, Wass JAH, Popovic V, Ribeiro-Oliveira A, Gadelha MR, Monson JP, Akker SA, Davis JRE, Clayton RN, Yoshimoto K, Iwata T, Matsuno A, Eguchi K, Musat M, Flanagan D and Peters G (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. 10.1210/jc.2007-2611

Cooray SN, Almiro Do Vale I, Leung K-Y, Webb TR, Chapple JP, Egertová M, Cheetham ME, Elphick MR and Clark AJL (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. 10.1210/en.2007-1463

CHAPPLE JP, Gallo JM, Cooper TA, Dev A, Martin TR and 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. 10.1093/hmg/ddm233

CHAPPLE JP, Dev A, Anthony K, Cooper TA, Rodriguez-Martin T and 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. 10.1093/hmg/ddm233

Howarth JL, Kelly S, Keasey MP, Glover CPJ, Lee YB, Mitrophanous K, Chapple JP, Gallo JM, Cheetham ME and Uney JB (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. 10.1038/sj.mt.6300163

Howarth JL, Kelly S, Keasey MP, Glover C, Lee Y-B, Mitrophanous K, Chapple JP, Gallo JM, Cheetham ME and Uney JB (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. 10.1038/sj.mt.6300163

Hooper C, Chapple JP, Lovestone S and 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. 10.1016/j.neulet.2007.01.049

Nicoll WS, Botha M, McNamara C, Schlange M, Pesce ER, Boshoff A, Ludewig MH, Zimmermann R, Cheetham ME, Chapple JP and Blatch GL (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. 10.1016/j.biocel.2006.11.006

Hooper C, Tavassoli M, Chapple JP, Uwanogho D, Goodyear R, Melino G, Lovestone S and Killick R (2006). TAp73 isoforms antagonize Notch signalling in SH-SY5Y neuroblastomas and in primary neurones. J Neurochem  vol. 99, (3) 989-999. 10.1111/j.1471-4159.2006.04142.x

Storr H, Koehler K, Huebner A, Chapple JP and 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 and 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. 10.1042/BJ20021475

Ross AJ, May-Simera H, Eichers ER, Kai M, Hill J, Jagger DJ, Leitch CC, Chapple JP, Munro PM, Fisher S, Tan PL, Phillips HM, Leroux MR, Henderson DJ, Murdoch JN, Copp AJ, Eliot MM, Lupski JR, Kemp DT, Dollfus H, Tada M, Katsanis N, Forge A and Beales PL (2005). Erratum: Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates (Nature Genetics (2005) 37 (1135-1140)). Nature Genetics  vol. 37, (12) 10.1038/ng1205-1381b

CHAPPLE JP, Fisher S, Tan PL, Phillips HM, Leitch CC, Eliot MM, Copp AJ, Katsanis N, Dollfus H, Kemp DT, Tada M, Ross AJ, May-Simera H, Eichers ER, Kai M, Forge A, Beales PL, Leroux MR, Murdoch JN, Henderson DJ, Munro PM, Jagger DJ, Hill J and Lupski JR (2005). Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nature Genetics  vol. 37, (10) 1135-1140. 10.1038/ng1644

CHAPPLE JP, Cheetham ME, Westhoff B, Van Der Spuy SJ and 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. 10.1016/j.cub.2005.04.058

David A, CHAPPLE JP, Cooray S, Metherell LA, Ruschendorf F and 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. 10.1038/ng1501

CHAPPLE JP, Cheetham ME, Van Der SJ and Mendes HF (2005). Mechanisms of cell death in rhodopsin retinitis pigmentosa: implications for therapy. Trends Mol Med  vol. 11, (4) 177-185. 10.1016/j.molmed.2005.02.007

CHAPPLE JP, Banerjee R, Gaasenbeek M, Cheetham ME, Ocaka L and Inglis-Broadgate SL (2005). Isolation and characterization of murine Cds (CDP-diacylglycerol synthase) 1 and 2. Gene  vol. 356, 19-31. 10.1016/j.gene.2005.04.037

Evans RJ, Chapple JP, Grayson C, Hardcastle AJ and Cheetham ME (2005). Assay and functional analysis of the ARL3 effector RP2 involved in X-linked retinitis pigmentosa. Methods Enzymol  vol. 404, 468-480. 10.1016/S0076-6879(05)04041-3

Longshaw VM, Chapple JP, Balda MS, Cheetham ME and 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. 10.1242/jcs.00905

CHAPPLE JP, Holder GE, Egan CA, Grayson C, Dandekar SS and 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. 10.1136/bjo.2003.027979

CHAPPLE JP, Cheetham ME, Poopalasundaram S and 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. 10.1042/BST0320640

CHAPPLE JP, Cheetham ME, Blatch GL, Longshaw VM and 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 and 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. 10.1074/jbc.M212349200

CHAPPLE JP and 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. 10.1074/jbc.M212349200

Chapple JP, Hardcastle AJ, Grayson C, Willison KR and 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 and 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. 10.1093/hmg/11.7.823

CHAPPLE JP, Willison KR, Grayson C, Cheetham ME, Hardcastle AJ and 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. 10.1136/jmg.39.1.62

CHAPPLE JP, Lewis SA, Willison KR, Bartolini F, Bhamidipati A and 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. 10.1093/hmg/11.24.3065

CHAPPLE JP, Cheetham ME, Blatch GL and Choglay AA (2001). Identification and characterization of a human mitochondrial homologue of the bacterial co-chaperone GrpE. Gene  vol. 267, (1) 125-134. 10.1016/s0378-1119(01)00396-1

CHAPPLE JP, Grayson C, Saliba RS, Hardcastle AJ, Van Der SJ and Cheetham ME (2001). Unfolding retinal dystrophies: a role for molecular chaperones? Trends Mol Med  vol. 7, (9) 414-421. 10.1016/s1471-4914(01)02103-7

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