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Items: 1 to 50 of 148

1.

Delineating the expanding phenotype associated with SCAPER gene mutation.

Fasham J, Arno G, Lin S, Xu M, Carss KJ, Hull S, Lane A, Robson AG, Wenger O, Self JE, Harlalka GV, Salter CG, Schema L, Moss TJ, Cheetham ME, Moore AT, Raymond FL, Chen R, Baple EL, Webster AR, Crosby AH; NIHR Bioresource Rare Diseases Consortium.

Am J Med Genet A. 2019 Jun 13. doi: 10.1002/ajmg.a.61202. [Epub ahead of print] No abstract available.

PMID:
31192531
2.

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect.

Cideciyan AV, Jacobson SG, Drack AV, Ho AC, Charng J, Garafalo AV, Roman AJ, Sumaroka A, Han IC, Hochstedler MD, Pfeifer WL, Sohn EH, Taiel M, Schwartz MR, Biasutto P, Wit W, Cheetham ME, Adamson P, Rodman DM, Platenburg G, Tome MD, Balikova I, Nerinckx F, Zaeytijd J, Van Cauwenbergh C, Leroy BP, Russell SR.

Nat Med. 2019 Feb;25(2):225-228. doi: 10.1038/s41591-018-0295-0. Epub 2018 Dec 17.

PMID:
30559420
3.

Function, evolution, and structure of J-domain proteins.

Kampinga HH, Andreasson C, Barducci A, Cheetham ME, Cyr D, Emanuelsson C, Genevaux P, Gestwicki JE, Goloubinoff P, Huerta-Cepas J, Kirstein J, Liberek K, Mayer MP, Nagata K, Nillegoda NB, Pulido P, Ramos C, De Los Rios P, Rospert S, Rosenzweig R, Sahi C, Taipale M, Tomiczek B, Ushioda R, Young JC, Zimmermann R, Zylicz A, Zylicz M, Craig EA, Marszalek J.

Cell Stress Chaperones. 2019 Jan;24(1):7-15. doi: 10.1007/s12192-018-0948-4. Epub 2018 Nov 26.

4.

Novel homozygous splicing mutations in ARL2BP cause autosomal recessive retinitis pigmentosa.

Fiorentino A, Yu J, Arno G, Pontikos N, Halford S, Broadgate S, Michaelides M, Carss KJ, Raymond FL, Cheetham ME, Webster AR, Downes SM, Hardcastle AJ; NIHR-BioResource Rare Diseases Consortium; U.K. Inherited Retinal Dystrophy Consortium.

Mol Vis. 2018 Aug 31;24:603-612. eCollection 2018.

5.

Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models.

Dulla K, Aguila M, Lane A, Jovanovic K, Parfitt DA, Schulkens I, Chan HL, Schmidt I, Beumer W, Vorthoren L, Collin RWJ, Garanto A, Duijkers L, Brugulat-Panes A, Semo M, Vugler AA, Biasutto P, Adamson P, Cheetham ME.

Mol Ther Nucleic Acids. 2018 Sep 7;12:730-740. doi: 10.1016/j.omtn.2018.07.010. Epub 2018 Jul 23.

6.

Whole-genome sequencing reveals a recurrent missense mutation in the Connexin 46 (GJA3) gene causing autosomal-dominant lamellar cataract.

Berry V, Ionides ACW, Pontikos N, Moghul I, Moore AT, Cheetham ME, Michaelides M.

Eye (Lond). 2018 May 1;32:1661-1668. doi: 10.1038/s41433-018-0154-8.

PMID:
29934635
7.

Antisense Therapy for a Common Corneal Dystrophy Ameliorates TCF4 Repeat Expansion-Mediated Toxicity.

Zarouchlioti C, Sanchez-Pintado B, Hafford Tear NJ, Klein P, Liskova P, Dulla K, Semo M, Vugler AA, Muthusamy K, Dudakova L, Levis HJ, Skalicka P, Hysi P, Cheetham ME, Tuft SJ, Adamson P, Hardcastle AJ, Davidson AE.

Am J Hum Genet. 2018 Apr 5;102(4):528-539. doi: 10.1016/j.ajhg.2018.02.010. Epub 2018 Mar 8.

8.

Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.

Liskova P, Dudakova L, Evans CJ, Rojas Lopez KE, Pontikos N, Athanasiou D, Jama H, Sach J, Skalicka P, Stranecky V, Kmoch S, Thaung C, Filipec M, Cheetham ME, Davidson AE, Tuft SJ, Hardcastle AJ.

Am J Hum Genet. 2018 Mar 1;102(3):447-459. doi: 10.1016/j.ajhg.2018.02.002.

9.

Correlative light and immuno-electron microscopy of retinal tissue cryostat sections.

Burgoyne T, Lane A, Laughlin WE, Cheetham ME, Futter CE.

PLoS One. 2018 Jan 9;13(1):e0191048. doi: 10.1371/journal.pone.0191048. eCollection 2018.

10.

A novel missense mutation in HSF4 causes autosomal-dominant congenital lamellar cataract in a British family.

Berry V, Pontikos N, Moore A, Ionides ACW, Plagnol V, Cheetham ME, Michaelides M.

Eye (Lond). 2018 Apr;32(4):806-812. doi: 10.1038/eye.2017.268. Epub 2017 Dec 15.

11.

DNAJ Proteins in neurodegeneration: essential and protective factors.

Zarouchlioti C, Parfitt DA, Li W, Gittings LM, Cheetham ME.

Philos Trans R Soc Lond B Biol Sci. 2018 Jan 19;373(1738). pii: 20160534. doi: 10.1098/rstb.2016.0534. Review.

12.

The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.

Athanasiou D, Aguila M, Bellingham J, Li W, McCulley C, Reeves PJ, Cheetham ME.

Prog Retin Eye Res. 2018 Jan;62:1-23. doi: 10.1016/j.preteyeres.2017.10.002. Epub 2017 Oct 16. Review.

13.

A recurrent splice-site mutation in EPHA2 causing congenital posterior nuclear cataract.

Berry V, Pontikos N, Albarca-Aguilera M, Plagnol V, Massouras A, Prescott D, Moore AT, Arno G, Cheetham ME, Michaelides M.

Ophthalmic Genet. 2018 Apr;39(2):236-241. doi: 10.1080/13816810.2017.1381977. Epub 2017 Oct 17.

PMID:
29039721
14.

The role of the ER stress-response protein PERK in rhodopsin retinitis pigmentosa.

Athanasiou D, Aguila M, Bellingham J, Kanuga N, Adamson P, Cheetham ME.

Hum Mol Genet. 2017 Dec 15;26(24):4896-4905. doi: 10.1093/hmg/ddx370.

15.

Missense variants in the X-linked gene PRPS1 cause retinal degeneration in females.

Fiorentino A, Fujinami K, Arno G, Robson AG, Pontikos N, Arasanz Armengol M, Plagnol V, Hayashi T, Iwata T, Parker M, Fowler T, Rendon A, Gardner JC, Henderson RH, Cheetham ME, Webster AR, Michaelides M, Hardcastle AJ; 100,000 Genomes Project, the Japan Eye Genetic Consortium and the UK Inherited Retinal Dystrophy Consortium.

Hum Mutat. 2018 Jan;39(1):80-91. doi: 10.1002/humu.23349. Epub 2017 Oct 17.

PMID:
28967191
16.

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.

Schwarz N, Lane A, Jovanovic K, Parfitt DA, Aguila M, Thompson CL, da Cruz L, Coffey PJ, Chapple JP, Hardcastle AJ, Cheetham ME.

Hum Mol Genet. 2017 Sep 1;26(17):3451. doi: 10.1093/hmg/ddx245. No abstract available.

17.

REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.

Agrawal SA, Burgoyne T, Eblimit A, Bellingham J, Parfitt DA, Lane A, Nichols R, Asomugha C, Hayes MJ, Munro PM, Xu M, Wang K, Futter CE, Li Y, Chen R, Cheetham ME.

Hum Mol Genet. 2017 Jul 15;26(14):2667-2677. doi: 10.1093/hmg/ddx149.

18.

Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.

Schwarz N, Lane A, Jovanovic K, Parfitt DA, Aguila M, Thompson CL, da Cruz L, Coffey PJ, Chapple JP, Hardcastle AJ, Cheetham ME.

Hum Mol Genet. 2017 Jul 1;26(13):2480-2492. doi: 10.1093/hmg/ddx143. Erratum in: Hum Mol Genet. 2017 Sep 1;26(17 ):3451.

19.

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

Xu M, Xie YA, Abouzeid H, Gordon CT, Fiorentino A, Sun Z, Lehman A, Osman IS, Dharmat R, Riveiro-Alvarez R, Bapst-Wicht L, Babino D, Arno G, Busetto V, Zhao L, Li H, Lopez-Martinez MA, Azevedo LF, Hubert L, Pontikos N, Eblimit A, Lorda-Sanchez I, Kheir V, Plagnol V, Oufadem M, Soens ZT, Yang L, Bole-Feysot C, Pfundt R, Allaman-Pillet N, Nitschké P, Cheetham ME, Lyonnet S, Agrawal SA, Li H, Pinton G, Michaelides M, Besmond C, Li Y, Yuan Z, von Lintig J, Webster AR, Le Hir H, Stoilov P; UK Inherited Retinal Dystrophy Consortium, Amiel J, Hardcastle AJ, Ayuso C, Sui R, Chen R, Allikmets R, Schorderet DF.

Am J Hum Genet. 2017 Apr 6;100(4):592-604. doi: 10.1016/j.ajhg.2017.02.008. Epub 2017 Mar 9.

20.

Rescue of the MERTK phagocytic defect in a human iPSC disease model using translational read-through inducing drugs.

Ramsden CM, Nommiste B, R Lane A, Carr AF, Powner MB, J K Smart M, Chen LL, Muthiah MN, Webster AR, Moore AT, Cheetham ME, da Cruz L, Coffey PJ.

Sci Rep. 2017 Mar 3;7(1):51. doi: 10.1038/s41598-017-00142-7.

21.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Arno G, Carss KJ, Hull S, Zihni C, Robson AG, Fiorentino A; UK Inherited Retinal Disease Consortium, Hardcastle AJ, Holder GE, Cheetham ME, Plagnol V; NIHR Bioresource - Rare Diseases Consortium, Moore AT, Raymond FL, Matter K, Balda MS, Webster AR.

Am J Hum Genet. 2017 Feb 2;100(2):334-342. doi: 10.1016/j.ajhg.2016.12.014. Epub 2017 Jan 26.

22.

Rescue of mutant rhodopsin traffic by metformin-induced AMPK activation accelerates photoreceptor degeneration.

Athanasiou D, Aguila M, Opefi CA, South K, Bellingham J, Bevilacqua D, Munro PM, Kanuga N, Mackenzie FE, Dubis AM, Georgiadis A, Graca AB, Pearson RA, Ali RR, Sakami S, Palczewski K, Sherman MY, Reeves PJ, Cheetham ME.

Hum Mol Genet. 2017 Jan 15;26(2):305-319. doi: 10.1093/hmg/ddw387.

23.

Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain.

Ottaviani D, Marin O, Arrigoni G, Franchin C, Vilardell J, Sandre M, Li W, Parfitt DA, Pinna LA, Cheetham ME, Ruzzene M.

Hum Mol Genet. 2017 Feb 1;26(3):611-623. doi: 10.1093/hmg/ddw420.

24.

Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies.

Parfitt DA, Lane A, Ramsden C, Jovanovic K, Coffey PJ, Hardcastle AJ, Cheetham ME.

Biochem Soc Trans. 2016 Oct 15;44(5):1245-1251. doi: 10.1042/BST20160156. Review.

25.

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.

Arno G, Agrawal SA, Eblimit A, Bellingham J, Xu M, Wang F, Chakarova C, Parfitt DA, Lane A, Burgoyne T, Hull S, Carss KJ, Fiorentino A, Hayes MJ, Munro PM, Nicols R, Pontikos N, Holder GE; UKIRDC, Asomugha C, Raymond FL, Moore AT, Plagnol V, Michaelides M, Hardcastle AJ, Li Y, Cukras C, Webster AR, Cheetham ME, Chen R.

Am J Hum Genet. 2016 Dec 1;99(6):1305-1315. doi: 10.1016/j.ajhg.2016.10.008. Epub 2016 Nov 23.

26.

Recessive Retinopathy Consequent on Mutant G-Protein β Subunit 3 (GNB3).

Arno G, Holder GE, Chakarova C, Kohl S, Pontikos N, Fiorentino A, Plagnol V, Cheetham ME, Hardcastle AJ, Webster AR, Michaelides M; UK Inherited Retinal Disease Consortium.

JAMA Ophthalmol. 2016 Aug 1;134(8):924-7. doi: 10.1001/jamaophthalmol.2016.1543.

PMID:
27281386
27.

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.

Parfitt DA, Lane A, Ramsden CM, Carr AJ, Munro PM, Jovanovic K, Schwarz N, Kanuga N, Muthiah MN, Hull S, Gallo JM, da Cruz L, Moore AT, Hardcastle AJ, Coffey PJ, Cheetham ME.

Cell Stem Cell. 2016 Jun 2;18(6):769-81. doi: 10.1016/j.stem.2016.03.021. Epub 2016 Apr 14.

28.

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis.

Chen HJ, Mitchell JC, Novoselov S, Miller J, Nishimura AL, Scotter EL, Vance CA, Cheetham ME, Shaw CE.

Brain. 2016 May;139(Pt 5):1417-32. doi: 10.1093/brain/aww028. Epub 2016 Mar 1.

29.

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).

Klionsky DJ, Abdelmohsen K, Abe A, Abedin MJ, Abeliovich H, Acevedo Arozena A, Adachi H, Adams CM, Adams PD, Adeli K, Adhihetty PJ, Adler SG, Agam G, Agarwal R, Aghi MK, Agnello M, Agostinis P, Aguilar PV, Aguirre-Ghiso J, Airoldi EM, Ait-Si-Ali S, Akematsu T, Akporiaye ET, Al-Rubeai M, Albaiceta GM, Albanese C, Albani D, Albert ML, Aldudo J, Algül H, Alirezaei M, Alloza I, Almasan A, Almonte-Beceril M, Alnemri ES, Alonso C, Altan-Bonnet N, Altieri DC, Alvarez S, Alvarez-Erviti L, Alves S, Amadoro G, Amano A, Amantini C, Ambrosio S, Amelio I, Amer AO, Amessou M, Amon A, An Z, Anania FA, Andersen SU, Andley UP, Andreadi CK, Andrieu-Abadie N, Anel A, Ann DK, Anoopkumar-Dukie S, Antonioli M, Aoki H, Apostolova N, Aquila S, Aquilano K, Araki K, Arama E, Aranda A, Araya J, Arcaro A, Arias E, Arimoto H, Ariosa AR, Armstrong JL, Arnould T, Arsov I, Asanuma K, Askanas V, Asselin E, Atarashi R, Atherton SS, Atkin JD, Attardi LD, Auberger P, Auburger G, Aurelian L, Autelli R, Avagliano L, Avantaggiati ML, Avrahami L, Awale S, Azad N, Bachetti T, Backer JM, Bae DH, Bae JS, Bae ON, Bae SH, Baehrecke EH, Baek SH, Baghdiguian S, Bagniewska-Zadworna A, Bai H, Bai J, Bai XY, Bailly Y, Balaji KN, Balduini W, Ballabio A, Balzan R, Banerjee R, Bánhegyi G, Bao H, Barbeau B, Barrachina MD, Barreiro E, Bartel B, Bartolomé A, Bassham DC, Bassi MT, Bast RC Jr, Basu A, Batista MT, Batoko H, Battino M, Bauckman K, Baumgarner BL, Bayer KU, Beale R, Beaulieu JF, Beck GR Jr, Becker C, Beckham JD, Bédard PA, Bednarski PJ, Begley TJ, Behl C, Behrends C, Behrens GM, Behrns KE, Bejarano E, Belaid A, Belleudi F, Bénard G, Berchem G, Bergamaschi D, Bergami M, Berkhout B, Berliocchi L, Bernard A, Bernard M, Bernassola F, Bertolotti A, Bess AS, Besteiro S, Bettuzzi S, Bhalla S, Bhattacharyya S, Bhutia SK, Biagosch C, Bianchi MW, Biard-Piechaczyk M, Billes V, Bincoletto C, Bingol B, Bird SW, Bitoun M, Bjedov I, Blackstone C, Blanc L, Blanco GA, Blomhoff HK, Boada-Romero E, Böckler S, Boes M, Boesze-Battaglia K, Boise LH, Bolino A, Boman A, Bonaldo P, Bordi M, Bosch J, Botana LM, Botti J, Bou G, Bouché M, Bouchecareilh M, Boucher MJ, Boulton ME, Bouret SG, Boya P, Boyer-Guittaut M, Bozhkov PV, Brady N, Braga VM, Brancolini C, Braus GH, Bravo-San Pedro JM, Brennan LA, Bresnick EH, Brest P, Bridges D, Bringer MA, Brini M, Brito GC, Brodin B, Brookes PS, Brown EJ, Brown K, Broxmeyer HE, Bruhat A, Brum PC, Brumell JH, Brunetti-Pierri N, Bryson-Richardson RJ, Buch S, Buchan AM, Budak H, Bulavin DV, Bultman SJ, Bultynck G, Bumbasirevic V, Burelle Y, Burke RE, Burmeister M, Bütikofer P, Caberlotto L, Cadwell K, Cahova M, Cai D, Cai J, Cai Q, Calatayud S, Camougrand N, Campanella M, Campbell GR, Campbell M, Campello S, Candau R, Caniggia I, Cantoni L, Cao L, Caplan AB, Caraglia M, Cardinali C, Cardoso SM, Carew JS, Carleton LA, Carlin CR, Carloni S, Carlsson SR, Carmona-Gutierrez D, Carneiro LA, Carnevali O, Carra S, Carrier A, Carroll B, Casas C, Casas J, Cassinelli G, Castets P, Castro-Obregon S, Cavallini G, Ceccherini I, Cecconi F, Cederbaum AI, Ceña V, Cenci S, Cerella C, Cervia D, Cetrullo S, Chaachouay H, Chae HJ, Chagin AS, Chai CY, Chakrabarti G, Chamilos G, Chan EY, Chan MT, Chandra D, Chandra P, Chang CP, Chang RC, Chang TY, Chatham JC, Chatterjee S, Chauhan S, Che Y, Cheetham ME, Cheluvappa R, Chen CJ, Chen G, Chen GC, Chen G, Chen H, Chen JW, Chen JK, Chen M, Chen M, Chen P, Chen Q, Chen Q, Chen SD, Chen S, Chen SS, Chen W, Chen WJ, Chen WQ, Chen W, Chen X, Chen YH, Chen YG, Chen Y, Chen Y, Chen Y, Chen YJ, Chen YQ, Chen Y, Chen Z, Chen Z, Cheng A, Cheng CH, Cheng H, Cheong H, Cherry S, Chesney J, Cheung CH, Chevet E, Chi HC, Chi SG, Chiacchiera F, Chiang HL, Chiarelli R, Chiariello M, Chieppa M, Chin LS, Chiong M, Chiu GN, Cho DH, Cho SG, Cho WC, Cho YY, Cho YS, Choi AM, Choi EJ, Choi EK, Choi J, Choi ME, Choi SI, Chou TF, Chouaib S, Choubey D, Choubey V, Chow KC, Chowdhury K, Chu CT, Chuang TH, Chun T, Chung H, Chung T, Chung YL, Chwae YJ, Cianfanelli V, Ciarcia R, Ciechomska IA, Ciriolo MR, Cirone M, Claerhout S, Clague MJ, Clària J, Clarke PG, Clarke R, Clementi E, Cleyrat C, Cnop M, Coccia EM, Cocco T, Codogno P, Coers J, Cohen EE, Colecchia D, Coletto L, Coll NS, Colucci-Guyon E, Comincini S, Condello M, Cook KL, Coombs GH, Cooper CD, Cooper JM, Coppens I, Corasaniti MT, Corazzari M, Corbalan R, Corcelle-Termeau E, Cordero MD, Corral-Ramos C, Corti O, Cossarizza A, Costelli P, Costes S, Cotman SL, Coto-Montes A, Cottet S, Couve E, Covey LR, Cowart LA, Cox JS, Coxon FP, Coyne CB, Cragg MS, Craven RJ, Crepaldi T, Crespo JL, Criollo A, Crippa V, Cruz MT, Cuervo AM, Cuezva JM, Cui T, Cutillas PR, Czaja MJ, Czyzyk-Krzeska MF, Dagda RK, Dahmen U, Dai C, Dai W, Dai Y, Dalby KN, Dalla Valle L, Dalmasso G, D'Amelio M, Damme M, Darfeuille-Michaud A, Dargemont C, Darley-Usmar VM, Dasarathy S, Dasgupta B, Dash S, Dass CR, Davey HM, Davids LM, Dávila D, Davis RJ, Dawson TM, Dawson VL, Daza P, de Belleroche J, de Figueiredo P, de Figueiredo RC, de la Fuente J, De Martino L, De Matteis A, De Meyer GR, De Milito A, De Santi M, de Souza W, De Tata V, De Zio D, Debnath J, Dechant R, Decuypere JP, Deegan S, Dehay B, Del Bello B, Del Re DP, Delage-Mourroux R, Delbridge LM, Deldicque L, Delorme-Axford E, Deng Y, Dengjel J, Denizot M, Dent P, Der CJ, Deretic V, Derrien B, Deutsch E, Devarenne TP, Devenish RJ, Di Bartolomeo S, Di Daniele N, Di Domenico F, Di Nardo A, Di Paola S, Di Pietro A, Di Renzo L, DiAntonio A, Díaz-Araya G, Díaz-Laviada I, Diaz-Meco MT, Diaz-Nido J, Dickey CA, Dickson RC, Diederich M, Digard P, Dikic I, Dinesh-Kumar SP, Ding C, Ding WX, Ding Z, Dini L, Distler JH, Diwan A, Djavaheri-Mergny M, Dmytruk K, Dobson RC, Doetsch V, Dokladny K, Dokudovskaya S, Donadelli M, Dong XC, Dong X, Dong Z, Donohue TM Jr, Doran KS, D'Orazi G, Dorn GW 2nd, Dosenko V, Dridi S, Drucker L, Du J, Du LL, Du L, du Toit A, Dua P, Duan L, Duann P, Dubey VK, Duchen MR, Duchosal MA, Duez H, Dugail I, Dumit VI, Duncan MC, Dunlop EA, Dunn WA Jr, Dupont N, Dupuis L, Durán RV, Durcan TM, Duvezin-Caubet S, Duvvuri U, Eapen V, Ebrahimi-Fakhari D, Echard A, Eckhart L, Edelstein CL, Edinger AL, Eichinger L, Eisenberg T, Eisenberg-Lerner A, Eissa NT, El-Deiry WS, El-Khoury V, Elazar Z, Eldar-Finkelman H, Elliott CJ, Emanuele E, Emmenegger U, Engedal N, Engelbrecht AM, Engelender S, Enserink JM, Erdmann R, Erenpreisa J, Eri R, Eriksen JL, Erman A, Escalante R, Eskelinen EL, Espert L, Esteban-Martínez L, Evans TJ, Fabri M, Fabrias G, Fabrizi C, Facchiano A, Færgeman NJ, Faggioni A, Fairlie WD, Fan C, Fan D, Fan J, Fang S, Fanto M, Fanzani A, Farkas T, Faure M, Favier FB, Fearnhead H, Federici M, Fei E, Felizardo TC, Feng H, Feng Y, Feng Y, Ferguson TA, Fernández ÁF, Fernandez-Barrena MG, Fernandez-Checa JC, Fernández-López A, Fernandez-Zapico ME, Feron O, Ferraro E, Ferreira-Halder CV, Fesus L, Feuer R, Fiesel FC, Filippi-Chiela EC, Filomeni G, Fimia GM, Fingert JH, Finkbeiner S, Finkel T, Fiorito F, Fisher PB, 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JT, Yu J, Yu L, Yu WH, Yu XF, Yu Z, Yuan J, Yuan ZM, Yue BY, Yue J, Yue Z, Zacks DN, Zacksenhaus E, Zaffaroni N, Zaglia T, Zakeri Z, Zecchini V, Zeng J, Zeng M, Zeng Q, Zervos AS, Zhang DD, Zhang F, Zhang G, Zhang GC, Zhang H, Zhang H, Zhang H, Zhang H, Zhang J, Zhang J, Zhang J, Zhang J, Zhang JP, Zhang L, Zhang L, Zhang L, Zhang L, Zhang MY, Zhang X, Zhang XD, Zhang Y, Zhang Y, Zhang Y, Zhang Y, Zhang Y, Zhao M, Zhao WL, Zhao X, Zhao YG, Zhao Y, Zhao Y, Zhao YX, Zhao Z, Zhao ZJ, Zheng D, Zheng XL, Zheng X, Zhivotovsky B, Zhong Q, Zhou GZ, Zhou G, Zhou H, Zhou SF, Zhou XJ, Zhu H, Zhu H, Zhu WG, Zhu W, Zhu XF, Zhu Y, Zhuang SM, Zhuang X, Ziparo E, Zois CE, Zoladek T, Zong WX, Zorzano A, Zughaier SM.

Autophagy. 2016;12(1):1-222. doi: 10.1080/15548627.2015.1100356. No abstract available. Erratum in: Autophagy. 2016;12(2):443. Selliez, Iban [corrected to Seiliez, Iban].

30.

Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.

Davidson AE, Liskova P, Evans CJ, Dudakova L, Nosková L, Pontikos N, Hartmannová H, Hodaňová K, Stránecký V, Kozmík Z, Levis HJ, Idigo N, Sasai N, Maher GJ, Bellingham J, Veli N, Ebenezer ND, Cheetham ME, Daniels JT, Thaung CM, Jirsova K, Plagnol V, Filipec M, Kmoch S, Tuft SJ, Hardcastle AJ.

Am J Hum Genet. 2016 Jan 7;98(1):75-89. doi: 10.1016/j.ajhg.2015.11.018. Epub 2015 Dec 31.

31.

Targeting the Proteostasis Network in Rhodopsin Retinitis Pigmentosa.

Parfitt DA, Cheetham ME.

Adv Exp Med Biol. 2016;854:479-84. doi: 10.1007/978-3-319-17121-0_64. Review.

32.

Hsp90 as a Potential Therapeutic Target in Retinal Disease.

Aguilà M, Cheetham ME.

Adv Exp Med Biol. 2016;854:161-7. doi: 10.1007/978-3-319-17121-0_22. Review.

33.

The Leber congenital amaurosis protein AIPL1 and EB proteins co-localize at the photoreceptor cilium.

Hidalgo-de-Quintana J, Schwarz N, Meschede IP, Stern-Schneider G, Powner MB, Morrison EE, Futter CE, Wolfrum U, Cheetham ME, van der Spuy J.

PLoS One. 2015 Mar 23;10(3):e0121440. doi: 10.1371/journal.pone.0121440. eCollection 2015.

34.

Molecular chaperones and neuronal proteostasis.

Smith HL, Li W, Cheetham ME.

Semin Cell Dev Biol. 2015 Apr;40:142-52. doi: 10.1016/j.semcdb.2015.03.003. Epub 2015 Mar 12. Review.

35.

Lack of Interphotoreceptor Retinoid Binding Protein Caused by Homozygous Mutation of RBP3 Is Associated With High Myopia and Retinal Dystrophy.

Arno G, Hull S, Robson AG, Holder GE, Cheetham ME, Webster AR, Plagnol V, Moore AT.

Invest Ophthalmol Vis Sci. 2015 Apr;56(4):2358-65. doi: 10.1167/iovs.15-16520.

PMID:
25766589
36.

Brittle cornea syndrome ZNF469 mutation carrier phenotype and segregation analysis of rare ZNF469 variants in familial keratoconus.

Davidson AE, Borasio E, Liskova P, Khan AO, Hassan H, Cheetham ME, Plagnol V, Alkuraya FS, Tuft SJ, Hardcastle AJ.

Invest Ophthalmol Vis Sci. 2015 Jan 6;56(1):578-86. doi: 10.1167/iovs.14-15792.

PMID:
25564447
37.

The role of HSP70 and its co-chaperones in protein misfolding, aggregation and disease.

Duncan EJ, Cheetham ME, Chapple JP, van der Spuy J.

Subcell Biochem. 2015;78:243-73. doi: 10.1007/978-3-319-11731-7_12. Review.

PMID:
25487025
38.

Differential light-induced responses in sectorial inherited retinal degeneration.

Ramon E, Cordomí A, Aguilà M, Srinivasan S, Dong X, Moore AT, Webster AR, Cheetham ME, Garriga P.

J Biol Chem. 2014 Dec 26;289(52):35918-28. doi: 10.1074/jbc.M114.609958. Epub 2014 Oct 30.

39.

Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells.

Schwarz N, Carr AJ, Lane A, Moeller F, Chen LL, Aguilà M, Nommiste B, Muthiah MN, Kanuga N, Wolfrum U, Nagel-Wolfrum K, da Cruz L, Coffey PJ, Cheetham ME, Hardcastle AJ.

Hum Mol Genet. 2015 Feb 15;24(4):972-86. doi: 10.1093/hmg/ddu509. Epub 2014 Oct 6.

40.

Three different cone opsin gene array mutational mechanisms with genotype-phenotype correlation and functional investigation of cone opsin variants.

Gardner JC, Liew G, Quan YH, Ermetal B, Ueyama H, Davidson AE, Schwarz N, Kanuga N, Chana R, Maher ER, Webster AR, Holder GE, Robson AG, Cheetham ME, Liebelt J, Ruddle JB, Moore AT, Michaelides M, Hardcastle AJ.

Hum Mutat. 2014 Nov;35(11):1354-62. doi: 10.1002/humu.22679.

41.

The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control.

Athanasiou D, Bevilacqua D, Aguila M, McCulley C, Kanuga N, Iwawaki T, Chapple JP, Cheetham ME.

Hum Mol Genet. 2014 Dec 15;23(24):6594-606. doi: 10.1093/hmg/ddu385. Epub 2014 Jul 23.

42.

The heat-shock response co-inducer arimoclomol protects against retinal degeneration in rhodopsin retinitis pigmentosa.

Parfitt DA, Aguila M, McCulley CH, Bevilacqua D, Mendes HF, Athanasiou D, Novoselov SS, Kanuga N, Munro PM, Coffey PJ, Kalmar B, Greensmith L, Cheetham ME.

Cell Death Dis. 2014 May 22;5:e1236. doi: 10.1038/cddis.2014.214.

43.

Hsp90 inhibition protects against inherited retinal degeneration.

Aguilà M, Bevilacqua D, McCulley C, Schwarz N, Athanasiou D, Kanuga N, Novoselov SS, Lange CA, Ali RR, Bainbridge JW, Gias C, Coffey PJ, Garriga P, Cheetham ME.

Hum Mol Genet. 2014 Apr 15;23(8):2164-75. doi: 10.1093/hmg/ddt613. Epub 2013 Dec 2.

44.

Molecular chaperone mediated late-stage neuroprotection in the SOD1(G93A) mouse model of amyotrophic lateral sclerosis.

Novoselov SS, Mustill WJ, Gray AL, Dick JR, Kanuga N, Kalmar B, Greensmith L, Cheetham ME.

PLoS One. 2013 Aug 30;8(8):e73944. doi: 10.1371/journal.pone.0073944. eCollection 2013.

45.

Mutations in ARL2BP, encoding ADP-ribosylation-factor-like 2 binding protein, cause autosomal-recessive retinitis pigmentosa.

Davidson AE, Schwarz N, Zelinger L, Stern-Schneider G, Shoemark A, Spitzbarth B, Gross M, Laxer U, Sosna J, Sergouniotis PI, Waseem NH, Wilson R, Kahn RA, Plagnol V, Wolfrum U, Banin E, Hardcastle AJ, Cheetham ME, Sharon D, Webster AR.

Am J Hum Genet. 2013 Aug 8;93(2):321-9. doi: 10.1016/j.ajhg.2013.06.003. Epub 2013 Jul 11.

46.

The cell stress machinery and retinal degeneration.

Athanasiou D, Aguilà M, Bevilacqua D, Novoselov SS, Parfitt DA, Cheetham ME.

FEBS Lett. 2013 Jun 27;587(13):2008-17. doi: 10.1016/j.febslet.2013.05.020. Epub 2013 May 15. Review.

47.

Unpicking the UPR.

Cheetham ME.

Invest Ophthalmol Vis Sci. 2012 Oct 1;53(11):7167. doi: 10.1167/iovs.12-11004. No abstract available.

PMID:
23065632
48.

NUB1 modulation of GSK3β reduces tau aggregation.

Richet E, Pooler AM, Rodriguez T, Novoselov SS, Schmidtke G, Groettrup M, Hanger DP, Cheetham ME, van der Spuy J.

Hum Mol Genet. 2012 Dec 15;21(24):5254-67. doi: 10.1093/hmg/dds376. Epub 2012 Sep 10.

PMID:
22965877
49.

Arl3 and RP2 mediated assembly and traffic of membrane associated cilia proteins.

Schwarz N, Hardcastle AJ, Cheetham ME.

Vision Res. 2012 Dec 15;75:2-4. doi: 10.1016/j.visres.2012.07.016. Epub 2012 Aug 2. Review.

50.

BiP prevents rod opsin aggregation.

Athanasiou D, Kosmaoglou M, Kanuga N, Novoselov SS, Paton AW, Paton JC, Chapple JP, Cheetham ME.

Mol Biol Cell. 2012 Sep;23(18):3522-31. doi: 10.1091/mbc.E12-02-0168. Epub 2012 Aug 1.

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