Results 31 to 40 of about 62,957 (275)

Translational readthrough of ciliopathy genes BBS2 and ALMS1 restores protein, ciliogenesis and function in patient fibroblasts

EBioMedicine, 2021
Background: Ciliary dysfunction underlies a range of genetic disorders collectively termed ciliopathies, for which there are no treatments available. Bardet-Biedl syndrome (BBS) is characterised by multisystemic involvement, including rod-cone dystrophy ...
Jonathan Eintracht, Elizabeth Forsythe, Helen May-Simera, Mariya Moosajee   +3 more
doaj   +1 more source

An engineered Tetrahymena tRNA(Gln) for in vivo incorporation of unnatural amino acids into proteins by nonsense suppression [PDF]

, 1996
A new tRNA, THG73, has been designed and evaluated as a vehicle for incorporating unnatural amino acids site-specifically into proteins expressed in vivo using the stop codon suppression technique.
Abelson, John N., Dougherty, Dennis A., Du, Fangyong, Kearney, Patrick C., Lester, Henry A., Nowak, Mark W., Saks, Margaret E., Sampson, Jeffrey R.   +7 more
core   +1 more source

Long-term nonsense suppression therapy moderates MPS I-H disease progression. [PDF]

Mol Genet Metab, 2014
Gunn G, Dai Y, Du M, Belakhov V, Kandasamy J, Schoeb TR, Baasov T, Bedwell DM, Keeling KM.   +8 more
europepmc   +2 more sources

Suppression of dnaE nonsense mutations by pcbA1 [PDF]

Journal of Bacteriology, 1989
DNA polymerase III has been recognized as the required replication enzyme in Escherichia coli. The synthesis subunit of DNA polymerase III holoenzyme (alpha subunit) is encoded by the dnaE gene. We have reported that E. coli cells can survive and grow in the absence of a functional dnaE gene product if DNA polymerase I and the pcbA1 mutation are ...
H, Maki, S K, Bryan, T, Horiuchi, R E, Moses   +3 more
openaire   +2 more sources

Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model [PDF]

, 2016
Choroideremia (CHM) is an X-linked chorioretinal dystrophy that is caused by mutations within a single gene, CHM Currently no effective treatment exists for these patients.
Coffey, P, da Cruz, L, Kalatzis, V, Moosajee, M, Smart, M, Torriano, S, Tracey-White, D, Webster, AR, Weetall, M, Welch, E   +9 more
core   +1 more source

Strategies against nonsense: oxadiazoles as translational readthrough-inducing drugs (TRIDs) [PDF]

, 2019
This review focuses on the use of oxadiazoles as translational readthrough-inducing drugs (TRIDs) to rescue the functional full-length protein expression in mendelian genetic diseases caused by nonsense mutations.
Campofelice A., Di Leonardo A., Lentini L., Melfi R., Pace A., Pibiri I., Tutone M.   +6 more
core   +1 more source

Nonsense-mediated mRNA decay efficiency varies in choroideremia providing a target to boost small molecule therapeutics [PDF]

, 2019
Choroideremia (CHM) is an x-linked recessive chorioretinal dystrophy, with 30% caused by nonsense mutations in the CHM gene resulting in an in-frame premature termination codon (PTC).
Adam M Dubis, Ailsa A Welch, Andreas Mitsios, Andrew R Webster, Carter, Floquet, Freund, Gonzalez-Hilarion, Gotham, Hajrah Sarkar, Hug, Jane Skinner, Jolly, Keeling, Kerem, Linde, Linde, Lindeboom, Mariya Moosajee, Matthew Smart, Moosajee, Moosajee, Nagy, Nguyen, Nickless, Peixeiro, Pereira, Peter J Coffey, Richardson, Schwarz, Torriano, Usuki, Vasiliki Kalatzis, Welch, Yamashita, Zetoune   +35 more
core   +2 more sources

Novel Translational Read-through–Inducing Drugs as a Therapeutic Option for Shwachman-Diamond Syndrome

Biomedicines, 2022
Shwachman-Diamond syndrome (SDS) is one of the most commonly inherited bone marrow failure syndromes (IBMFS). In SDS, bone marrow is hypocellular, with marked neutropenia.
Valentino Bezzerri, Laura Lentini, Martina Api, Elena Marinelli Busilacchi, Vincenzo Cavalieri, Antonella Pomilio, Francesca Diomede, Anna Pegoraro, Simone Cesaro, Antonella Poloni, Andrea Pace, Oriana Trubiani, Giuseppe Lippi, Ivana Pibiri, Marco Cipolli   +14 more
doaj   +1 more source

Improved ANAP incorporation and VCF analysis reveal details of P2X7 current facilitation and a limited conformational interplay between ATP binding and the intracellular ballast domain

eLife, 2023
The large intracellular C-terminus of the pro-inflammatory P2X7 ion channel receptor (P2X7R) is associated with diverse P2X7R-specific functions. Cryo-EM structures of the closed and ATP-bound open full-length P2X7R recently identified a membrane ...
Anna Durner, Ellis Durner, Annette Nicke
doaj   +1 more source

Probing the role of the cation–π interaction in the binding sites of GPCRs using unnatural amino acids [PDF]

, 2009
We describe a general application of the nonsense suppression methodology for unnatural amino acid incorporation to probe drug–receptor interactions in functional G protein-coupled receptors (GPCRs), evaluating the binding sites of both the M2 muscarinic
Ballesteros, Cho, D. A. Dougherty, Dougherty, Dougherty, Dougherty, Doupnik, Gallivan, H. A. Lester, Hibert, Hopkins, Huang, Huang, K. S. Bower, Klabunde, Kofuji, Krapivinsky, Lagerstrom, Lu, Lu, M. M. Torrice, Ma, Mark, Nemeth, Nowak, Palczewski, Rasmussen, Schwartz, Warne, Xiu, Zacharias, Zhong   +31 more
core   +3 more sources