Gene therapy for Rett syndrome: prospects and challenges (Q57677438)

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Paul D Ross

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Noha G Bahey

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Mark ES Bailey

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Stuart R Cobb

Rett syndrome: revised diagnostic criteria and nomenclature

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publication date

November 2015

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published in

Future Neurology

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volume

10

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issue

5

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page(s)

467-484

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cites work

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MeCP2 and Rett syndrome: reversibility and potential avenues for therapy.

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Rett syndrome: a complex disorder with simple roots

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A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

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Expression of MeCP2 in postmitotic neurons rescues Rett syndrome in mice

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Systemic delivery of MeCP2 rescues behavioral and cellular deficits in female mouse models of Rett syndrome

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Mechanisms and therapeutic challenges in autism spectrum disorders: insights from Rett syndrome

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Rett-causing mutations reveal two domains critical for MeCP2 function and for toxicity in MECP2 duplication syndrome mice

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Rett syndrome mutation MeCP2 T158A disrupts DNA binding, protein stability and ERP responses

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Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome

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MeCP2: only 100% will do.

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The neural circuit basis of Rett syndrome

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Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene

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Isogenic pairs of wild type and mutant induced pluripotent stem cell (iPSC) lines from Rett syndrome patients as in vitro disease model

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Donor cell type can influence the epigenome and differentiation potential of human induced pluripotent stem cells

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Rett syndrome induced pluripotent stem cell-derived neurons reveal novel neurophysiological alterations.

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Mutant astrocytes differentiated from Rett syndrome patients-specific iPSCs have adverse effects on wild-type neurons

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Differentiation of multipotent neural stem cells derived from Rett syndrome patients is biased toward the astrocytic lineage

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A Model for Neural Development and Treatment of Rett Syndrome Using Human Induced Pluripotent Stem Cells

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Isolation of MECP2-null Rett Syndrome patient hiPS cells and isogenic controls through X-chromosome inactivation

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Investigation of Rett syndrome using pluripotent stem cells

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Mild overexpression of MeCP2 causes a progressive neurological disorder in mice.

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A role for glia in the progression of Rett's syndrome

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MECP2 is progressively expressed in post-migratory neurons and is involved in neuronal maturation rather than cell fate decisions

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MECP2 isoform-specific vectors with regulated expression for Rett syndrome gene therapy

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Clinical applications involving CNS gene transfer

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Characterisation of breathing and associated central autonomic dysfunction in the Rett disorder

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Serotonin transporter abnormality in the dorsal motor nucleus of the vagus in Rett syndrome: potential implications for clinical autonomic dysfunction

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Modulation of metabolic brain networks after subthalamic gene therapy for Parkinson's disease

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Safety and tolerability of putaminal AADC gene therapy for Parkinson disease

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Stable gene transfer and expression of human blood coagulation factor IX after intramuscular injection of recombinant adeno-associated virus

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Multiyear therapeutic benefit of AAV serotypes 2, 6, and 8 delivering factor VIII to hemophilia A mice and dogs

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A partial loss of function allele of methyl-CpG-binding protein 2 predicts a human neurodevelopmental syndrome

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Ube3a mRNA and protein expression are not decreased in Mecp2R168X mutant mice

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A segment of the Mecp2 promoter is sufficient to drive expression in neurons

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Identification of cis-regulatory elements for MECP2 expression

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CAGE-defined promoter regions of the genes implicated in Rett Syndrome.

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MeCP2 mutation causes distinguishable phases of acute and chronic defects in synaptogenesis and maintenance, respectively

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MeCP2 deficiency disrupts axonal guidance, fasciculation, and targeting by altering Semaphorin 3F function.

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Developmental and maintenance defects in Rett syndrome neurons identified by a new mouse staging system in vitro.

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Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2.

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Rescue of behavioral and EEG deficits in male and female Mecp2-deficient mice by delayed Mecp2 gene reactivation

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Adult neural function requires MeCP2.

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Long-term pharmacologically regulated expression of erythropoietin in primates following AAV-mediated gene transfer.

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Long-term correction of inhibitor-prone hemophilia B dogs treated with liver-directed AAV2-mediated factor IX gene therapy

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Detection of intact rAAV particles up to 6 years after successful gene transfer in the retina of dogs and primates

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Long-term follow-up after gene therapy for canavan disease.

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Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypes

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Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities

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Inflammatory lung disease in Rett syndrome

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Biomechanical properties of bone in a mouse model of Rett syndrome

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Breathing challenges in Rett syndrome: lessons learned from humans and animal models.

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Longitudinal bone mineral content and density in Rett syndrome and their contributing factors.

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A role for metabolism in Rett syndrome pathogenesis: New clinical findings and potential treatment targets

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Several rAAV vectors efficiently cross the blood-brain barrier and transduce neurons and astrocytes in the neonatal mouse central nervous system

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Global CNS transduction of adult mice by intravenously delivered rAAVrh.8 and rAAVrh.10 and nonhuman primates by rAAVrh.10

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Neuronal MeCP2 is expressed at near histone-octamer levels and globally alters the chromatin state.

21 January 2018

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Engineering liver-detargeted AAV9 vectors for cardiac and musculoskeletal gene transfer

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Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry

21 January 2018

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Brain-specific phosphorylation of MeCP2 regulates activity-dependent Bdnf transcription, dendritic growth, and spine maturation

21 January 2018

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Non-cell autonomous influence of MeCP2-deficient glia on neuronal dendritic morphology

21 January 2018

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Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions

21 January 2018

1 reference

Selective preservation of MeCP2 in catecholaminergic cells is sufficient to improve the behavioral phenotype of male and female Mecp2-deficient mice.

21 January 2018

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MeCP2 is critical within HoxB1-derived tissues of mice for normal lifespan

21 January 2018

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Cellular origins of auditory event-related potential deficits in Rett syndrome

21 January 2018

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Submicroscopic duplication in Xq28 causes increased expression of the MECP2 gene in a boy with severe mental retardation and features of Rett syndrome

21 January 2018

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Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males

21 January 2018

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Aminoglycoside suppression at UAG, UAA and UGA codons in Escherichia coli and human tissue culture cells

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Aminoglycoside antibiotics mediate context-dependent suppression of termination codons in a mammalian translation system

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Suppression of nonsense mutations in Rett syndrome by aminoglycoside antibiotics

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DNA repair deficiency in neurodegeneration.

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High-frequency off-target mutagenesis induced by CRISPR-Cas nucleases in human cells

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Wild-type microglia arrest pathology in a mouse model of Rett syndrome

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Wild-type microglia do not reverse pathology in mouse models of Rett syndrome

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