Michael E Cheetham
Affiliation: University College London
Dulla K, Aguilà M, Lane A, Jovanovic K, Parfitt D, Schulkens I, et al
. Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models. Mol Ther Nucleic Acids. 2018;12:730-740 pubmed publisher
..In conclusion, the pharmacodynamic, pharmacokinetic, and safety properties make QR-110 a promising candidate for treating LCA10, and clinical development is currently ongoing. ..
Smith H, Li W, Cheetham M. Molecular chaperones and neuronal proteostasis. Semin Cell Dev Biol. 2015;40:142-52 pubmed publisher
..In this review, we focus on the importance of molecular chaperones in neurodegenerative diseases, and discuss the advances in understanding their protective mechanisms. ..
Parfitt D, Lane A, Ramsden C, Carr A, Munro P, Jovanovic K, et al
. Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups. Cell Stem Cell. 2016;18:769-81 pubmed publisher
..These results provide a mechanistic understanding of the retina-specific phenotypes in CEP290 LCA patients and potential strategies for therapeutic intervention. ..
Parfitt D, Cheetham M. Targeting the Proteostasis Network in Rhodopsin Retinitis Pigmentosa. Adv Exp Med Biol. 2016;854:479-84 pubmed publisher
Athanasiou D, Bevilacqua D, Aguilà M, McCulley C, Kanuga N, Iwawaki T, et al
. The co-chaperone and reductase ERdj5 facilitates rod opsin biogenesis and quality control. Hum Mol Genet. 2014;23:6594-606 pubmed publisher
..Collectively, these data identify ERdj5 as a member of the proteostasis network that regulates rod opsin biogenesis and supports a role for disulphide bond formation/reduction in rod opsin biogenesis and disease. ..
Schwarz N, Carr A, Lane A, Moeller F, Chen L, AguilÃ M, et al
. Translational read-through of the RP2 Arg120stop mutation in patient iPSC-derived retinal pigment epithelium cells. Hum Mol Genet. 2015;24:972-86 pubmed publisher
..The ability of the restored RP2 protein level to reverse the observed cellular phenotypes in cells lacking RP2 indicates that translational read-through could be clinically beneficial for patients. ..
Arno G, Agrawal S, Eblimit A, Bellingham J, Xu M, Wang F, et al
. Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. Am J Hum Genet. 2016;99:1305-1315 pubmed publisher
..Therefore, our study implicates REEP6 in retinal homeostasis and highlights a pathway previously uncharacterized in retinal dystrophy. ..
Athanasiou D, Aguilà M, Bellingham J, Li W, McCulley C, Reeves P, et al
. The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy. Prog Retin Eye Res. 2018;62:1-23 pubmed publisher
..The understanding of the disease mechanisms associated with rhodopsin RP and the development of targeted therapies offer the potential of treatment for this currently untreatable neurodegeneration. ..
Zarouchlioti C, Parfitt D, Li W, Gittings L, Cheetham M. DNAJ Proteins in neurodegeneration: essential and protective factors. Philos Trans R Soc Lond B Biol Sci. 2018;373: pubmed publisher
..This article is part of the theme issue 'Heat shock proteins as modulators and therapeutic targets of chronic disease: an integrated perspective'. ..