Literature DB >> 11826029

In vitro analysis of aminoglycoside therapy for the Arg120stop nonsense mutation in RP2 patients.

C Grayson, J P Chapple, K R Willison, A R Webster, A J Hardcastle, M E Cheetham.   

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Year:  2002        PMID： 11826029      PMCID： PMC1734968          DOI： 10.1136/jmg.39.1.62

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  15 in total

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4.  Correction of ATM gene function by aminoglycoside-induced read-through of premature termination codons.

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Review 7.  Nonsense suppression therapies in ocular genetic diseases.

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8.  Organization on the plasma membrane of the retinitis pigmentosa protein RP2: investigation of association with detergent-resistant membranes and polarized sorting.

Authors:  J Paul Chapple; Celene Grayson; Alison J Hardcastle; Tracey A Bailey; Karl Matter; Peter Adamson; Catriona H Graham; Keith R Willison; Michael E Cheetham
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9.  G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis.

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10.  An atypical phenotype of macular and peripapillary retinal atrophy caused by a mutation in the RP2 gene.

Authors:  S S Dandekar; N D Ebenezer; C Grayson; J P Chapple; C A Egan; G E Holder; S A Jenkins; F W Fitzke; M E Cheetham; A R Webster; A J Hardcastle
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