Suppression of Nonsense Mutations in Rett Syndrome by Aminoglycoside Antibiotics

Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2

Ruthie E. Amir, Ignatia B. Van den Veyver, Mimi Wan et al. · Nature Genetics · 1999 · 5K citations

Life Sciences, Genetics, Molecular Genetics +9

Methylated DNA and MeCP2 recruit histone deacetylase to repress transcription

Peter Lloyd Jones, Gert Jan C. Veenstra, Paul A. Wade et al. · Nature Genetics · 1998 · 2.7K citations

Life Sciences, Genetics, Molecular Biology +10

A progressive syndrome of autism, dementia, ataxia, and loss of purposeful hand use in girls: Rett's syndrome: Report of 35 cases

Bengt Hagberg, Jean Aicardi, Karin Ziliotto Dias et al. · Annals of Neurology · 1983 · 1.5K citations

Medicine, Neurology, Pediatrics +15

Reversal of Neurological Defects in a Mouse Model of Rett Syndrome

Jacky Guy, Jian Gan, Jim Selfridge et al. · Science · 2007 · 1.2K citations · Full text

Life Sciences, Genetics, Neuroscience +17

PTC124 targets genetic disorders caused by nonsense mutations

Ellen Welch, Elisabeth R. Barton, Jin Zhuo et al. · Nature · 2007 · 1.1K citations

Life Sciences, Genetics, Molecular Genetics +8