Results 81 to 90 of about 5,883 (112)

A small molecule that induces translational readthrough of CFTR nonsense mutations by eRF1 depletion. [PDF]

Nat Commun, 2021
Sharma J, Du M, Wong E, Mutyam V, Li Y, Chen J, Wangen J, Thrasher K, Fu L, Peng N, Tang L, Liu K, Mathew B, Bostwick RJ, Augelli-Szafran CE, Bihler H, Liang F, Mahiou J, Saltz J, Rab A, Hong J, Sorscher EJ, Mendenhall EM, Coppola CJ, Keeling KM, Green R, Mense M, Suto MJ, Rowe SM, Bedwell DM.   +29 more
europepmc   +1 more source

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

EBioMedicine, 2021
Eintracht J, Forsythe E, May-Simera H, Moosajee M.   +3 more
europepmc   +1 more source

Properties of Non-Aminoglycoside Compounds Used to Stimulate Translational Readthrough of PTC Mutations in Primary Ciliary Dyskinesia. [PDF]

Int J Mol Sci, 2021
Dabrowski M, Bukowy-Bieryllo Z, Jackson CL, Zietkiewicz E.   +3 more
europepmc   +1 more source

Immunogenic implications of translational readthrough modulate the association of F8 nonsense mutations with inhibitors in Hemophilia A. [PDF]

Mol Med
Testa MF, Pinotti M, Branchini A, Mancuso ME, Bernardi F, Balestra D.   +5 more
europepmc   +1 more source

Rescuing TP53 from nonsense: novel triazoles for translational readthrough via optimized drug design. [PDF]

Sci Rep
Ricci D, Menditto M, Culletta G, Tutone M, Rizzo C, Pace A, Lentini L, Pibiri I.   +7 more
europepmc   +1 more source

Therapeutic Opportunities in Overcoming Premature Termination Codons in Epidermolysis Bullosa via Translational Readthrough. [PDF]

Cells
Miao KL, Huynh R, Woodley D, Chen M.
europepmc   +1 more source

CFTR rescue in W1282X cystic fibrosis patient-derived intestinal organoids (PDIOs) mediated by translational readthrough-inducing drugs (TRIDs). [PDF]

Genet Med Open
Perriera R, Ramalho AS, Vermeulen F, Vitale E, Pibiri I, Pace A, Lentini L.   +6 more
europepmc   +1 more source

Therapeutic Potential of Translational Readthrough at Disease-Associated Premature Termination Codons From Tumor Suppressor Genes. [PDF]

IUBMB Life
Torices L, Nunes-Xavier CE, Pulido R.
europepmc   +1 more source

Dbp5/DDX19 between Translational Readthrough and Nonsense Mediated Decay. [PDF]

Int J Mol Sci, 2020
Beißel C, Grosse S, Krebber H.
europepmc   +1 more source

Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants.

JAMA Dermatol, 2022
Martínez-Santamaría L, Maseda R, de Arriba MDC, Membrilla JA, Sigüenza AI, Mascías J, García M, Quintana L, Esteban-Rodríguez I, Hernández-Fernández CP, Illera N, Duarte B, Guerrero-Aspizúa S, Woodley DT, Del Río M, de Lucas R, Larcher F, Escámez MJ.   +17 more
europepmc   +1 more source