Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients.
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Moving towards effective therapeutic strategies for Neuronal Ceroid LipofuscinosisTherapeutic suppression of premature termination codons: mechanisms and clinical considerations (review)The novel Cln1(R151X) mouse model of infantile neuronal ceroid lipofuscinosis (INCL) for testing nonsense suppression therapyA lack of premature termination codon read-through efficacy of PTC124 (Ataluren) in a diverse array of reporter assaysA rapid and sensitive method for measuring N-acetylglucosaminidase activity in cultured cellsAtaluren treatment of patients with nonsense mutation dystrophinopathy.Nonsense-mediated decay in genetic disease: friend or foe?Mice homozygous for c.451C>T mutation in Cln1 gene recapitulate INCL phenotype.Phase 2a study of ataluren-mediated dystrophin production in patients with nonsense mutation Duchenne muscular dystrophy.Ataluren: first global approval.Progress in the Development of Small Molecule Therapeutics for the Treatment of Neuronal Ceroid Lipofuscinoses (NCLs).Reversible Cysteine Acylation Regulates the Activity of Human Palmitoyl-Protein Thioesterase 1 (PPT1).Effect of Readthrough Treatment in Fibroblasts of Patients Affected by Lysosomal Diseases Caused by Premature Termination CodonsPharmacological read-through of nonsense ARSB mutations as a potential therapeutic approach for mucopolysaccharidosis VIToward postnatal reversal of ocular congenital malformations.Therapeutics based on stop codon readthrough.Clinical trials in rare disease: challenges and opportunities.Ataluren as an agent for therapeutic nonsense suppression.Considerations for the treatment of infantile neuronal ceroid lipofuscinosis (infantile Batten disease)Nonsense Suppression as an Approach to Treat Lysosomal Storage Diseases.Treatment options for lysosomal storage disorders: developing insights.Readthrough strategies for therapeutic suppression of nonsense mutations in inherited metabolic disease.Targeting Nonsense Mutations in Diseases with Translational Read-Through-Inducing Drugs (TRIDs).Functional rescue of REP1 following treatment with PTC124 and novel derivative PTC-414 in human choroideremia fibroblasts and the nonsense-mediated zebrafish model.A flow cytometry-based reporter assay identifies macrolide antibiotics as nonsense mutation read-through agents.Palmitoyl-protein thioesterase 1 (PPT1): an obesity-induced rat testicular marker of reduced fertility.The role of nonsense-mediated decay in neuronal ceroid lipofuscinosis.Optimized approach for the identification of highly efficient correctors of nonsense mutations in human diseases.Suppression of galactocerebrosidase premature termination codon and rescue of galactocerebrosidase activity in twitcher cells.Advances in therapeutic use of a drug-stimulated translational readthrough of premature termination codons.
P2860
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P2860
Stop codon read-through with PTC124 induces palmitoyl-protein thioesterase-1 activity, reduces thioester load and suppresses apoptosis in cultured cells from INCL patients.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Stop codon read-through with P ...... ured cells from INCL patients.
@ast
Stop codon read-through with P ...... ured cells from INCL patients.
@en
type
label
Stop codon read-through with P ...... ured cells from INCL patients.
@ast
Stop codon read-through with P ...... ured cells from INCL patients.
@en
prefLabel
Stop codon read-through with P ...... ured cells from INCL patients.
@ast
Stop codon read-through with P ...... ured cells from INCL patients.
@en
P2093
P2860
P1476
Stop codon read-through with P ...... ured cells from INCL patients.
@en
P2093
Anil B Mukherjee
Chinmoy Sarkar
Zhongjian Zhang
P2860
P304
P356
10.1016/J.YMGME.2011.05.021
P577
2011-06-13T00:00:00Z