相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Readthrough of nonsense mutations in Rett syndrome: evaluation of novel aminoglycosides and generation of a new mouse model
Cornelia Brendel et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2011)
MeCP2 deficiency downregulates specific nuclear proteins that could be partially recovered by valproic acid in vitro
Manuela Vecsler et al.
EPIGENETICS (2010)
Exogenous Brain-Derived Neurotrophic Factor Rescues Synaptic Dysfunction in Mecp2-Null Mice
David D. Kline et al.
JOURNAL OF NEUROSCIENCE (2010)
Neuronal MeCP2 Is Expressed at Near Histone-Octamer Levels and Globally Alters the Chromatin State
Peter J. Skene et al.
MOLECULAR CELL (2010)
Beneficial Read-Through of a USH1C Nonsense Mutation by Designed Aminoglycoside NB30 in the Retina
Tobias Goldmann et al.
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE (2010)
Development of Novel Aminoglycoside (NB54) with Reduced Toxicity and Enhanced Suppression of Disease-Causing Premature Stop Mutations
Igor Nudelman et al.
JOURNAL OF MEDICINAL CHEMISTRY (2009)
Suppression of Nonsense Mutations in Rett Syndrome by Aminoglycoside Antibiotics
Cornelia Brendel et al.
PEDIATRIC RESEARCH (2009)
Designer aminoglycosides: the race to develop improved antibiotics and compounds for the treatment of human genetic diseases
Mariana Hainrichson et al.
ORGANIC & BIOMOLECULAR CHEMISTRY (2008)
MeCP2, a key contributor to neurological disease, activates and represses transcription
Maria Chahrour et al.
SCIENCE (2008)
Aminoglycoside antibiotics: old drugs and new therapeutic approaches
T. Hermann
CELLULAR AND MOLECULAR LIFE SCIENCES (2007)
PTC124 targets genetic disorders caused by nonsense mutations
Ellen M. Welch et al.
NATURE (2007)
Nonsense-mediated mRNA decay affects nonsense transcript levels and governs response of cystic fibrosis patients to gentamicin
Liat Linde et al.
JOURNAL OF CLINICAL INVESTIGATION (2007)
Reversal of neurological defects in a mouse model of Rett syndrome
Jacky Guy et al.
SCIENCE (2007)
Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2
Emanuela Giacometti et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)
The disease progression mutant mice is affected of Mecp2 by the level of BDNF expression
QA Chang et al.
NEURON (2006)
Regulation of RNA splicing by the methylation-dependent transcriptional repressor methyl-CpG binding protein 2
JI Young et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2005)
Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males
H Van Esch et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2005)
Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome -: art. no. e12
M Meins et al.
JOURNAL OF MEDICAL GENETICS (2005)
Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment
L Bidou et al.
GENE THERAPY (2004)
A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome
GN Mnatzakanian et al.
NATURE GENETICS (2004)
The major form of MeCP2 has a novel N-terminus generated by alternative splicing
S Kriaucionis et al.
NUCLEIC ACIDS RESEARCH (2004)
Essential role of brain-derived neurotrophic factor in adult hippocampal function
LM Monteggia et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2004)
Pharmacologic therapy for stop mutations: how much CFTR activity is enough?
E Kerem
CURRENT OPINION IN PULMONARY MEDICINE (2004)
Mild overexpression of MeCP2 causes a progressive neurological disorder in mice
AL Collins et al.
HUMAN MOLECULAR GENETICS (2004)
Derepression of BDNF transcription involves calcium-dependent phosphorylation of MeCP2
WG Chen et al.
SCIENCE (2003)
DNA methylation-related chromatin remodeling in activity-dependent Bdnf gene regulation
K Martinowich et al.
SCIENCE (2003)
RettBASE:: The IRSA MECP2 variation data-base -: A new mutation database in evolution
J Christodoulou et al.
HUMAN MUTATION (2003)
Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis
AS Ramalho et al.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY (2002)
Aminoglycoside suppression of a premature stop mutation in a Cftr-/- mouse carrying a human CFTR-G542X transgene
M Du et al.
JOURNAL OF MOLECULAR MEDICINE-JMM (2002)
MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin
R Trappe et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2001)
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome
J Guy et al.
NATURE GENETICS (2001)
Deficiency of methyl-CpG binding protein-2 in CNS neurons results in a Rett-like phenotype in mice
RZ Chen et al.
NATURE GENETICS (2001)
Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions
F Laccone et al.
HUMAN MUTATION (2001)
Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system
M Manuvakhova et al.
RNA (2000)