Browse by UCL people
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Number of items: 10.
Article
Agrawal, SA;
Burgoyne, T;
Eblimit, A;
Bellingham, J;
Parfitt, DA;
Lane, A;
Nichols, R;
... Cheetham, ME; + view all
(2017)
REEP6 Deficiency Leads to Retinal Degeneration through Disruption of ER Homeostasis and Protein Trafficking.
Human Molecular Genetics
, 26
(14)
pp. 2667-2677.
10.1093/hmg/ddx149.
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Arno, G;
Agrawal, SA;
Eblimit, A;
Bellingham, J;
Xu, M;
Wang, F;
Chakarova, C;
... Chen, R; + view all
(2016)
Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa.
Am J Hum Genet
, 99
(6)
pp. 1305-1315.
10.1016/j.ajhg.2016.10.008.
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Dulla, K;
Aguila, M;
Lane, A;
Jovanovic, K;
Parfitt, DA;
Schulkens, I;
Chan, HL;
... Cheetham, ME; + view all
(2018)
Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models.
Molecular Therapy - Nucleic Acids
, 12
pp. 730-740.
10.1016/j.omtn.2018.07.010.
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Ottaviani, D;
Marin, O;
Arrigoni, G;
Franchin, C;
Vilardell, J;
Sandre, M;
Li, W;
... Ruzzene, M; + view all
(2017)
Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain.
Human Molecular Genetics
, 26
(3)
pp. 611-623.
10.1093/hmg/ddw420.
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Parfitt, DA;
Aguila, M;
McCulley, CH;
Bevilacqua, D;
Mendes, HF;
Athanasiou, D;
Novoselov, SS;
... Cheetham, ME; + view all
(2014)
The heat-shock response co-inducer arimoclomol protects against retinal degeneration in rhodopsin retinitis pigmentosa.
Cell Death Dis
, 5
, Article e1236. 10.1038/cddis.2014.214.
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Parfitt, DA;
Lane, A;
Ramsden, C;
Jovanovic, K;
Coffey, PJ;
Hardcastle, AJ;
Cheetham, ME;
(2016)
Using induced pluripotent stem cells to understand retinal ciliopathy disease mechanisms and develop therapies.
Biochemical Society Transactions
, 44
(5)
pp. 1245-1251.
10.1042/BST20160156.
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Parfitt, DA;
Lane, A;
Ramsden, CM;
Carr, A-JF;
Munro, PM;
Jovanovic, K;
Schwarz, N;
... Cheetham, ME; + view all
(2016)
Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups.
Cell Stem Cell
, 18
(6)
pp. 769-781.
10.1016/j.stem.2016.03.021.
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Schwarz, N;
Lane, A;
Jovanovic, K;
Parfitt, DA;
Aguila, M;
Thompson, CL;
da Cruz, L;
... Cheetham, ME; + view all
(2017)
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
[Corrigendum].
Human Molecular Genetics
, 26
(17)
p. 3451.
10.1093/hmg/ddx245.
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Schwarz, N;
Lane, A;
Jovanovich, K;
Parfitt, DA;
Aguila, M;
Thompson, CL;
da Cruz, L;
... Cheetham, ME; + view all
(2017)
Arl3 and RP2 regulate the trafficking of ciliary tip kinesins.
Human Molecular Genetics
, 26
(13)
pp. 2480-2492.
10.1093/hmg/ddx143.
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Zarouchlioti, C;
Parfitt, DA;
Li, WW;
Gittings, LM;
Cheetham, ME;
(2018)
DNAJ proteins in neurodegeneration: essential and protective factors.
Philosophical Transactions B: Biological Sciences
, 373
(1738)
, Article 20160534. 10.1098/rstb.2016.0534.
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