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Volumn 12, Issue 2, 2010, Pages 127-134

The role of MeCP2 in brain development and neurodevelopmental disorders

Author keywords

Angelman's syndrome; Autism; Epigenetic; Neurodevelopmental; Rett syndrome

Indexed keywords

AUTISM; BRAIN DEVELOPMENT; BRAIN DISEASE; EPIGENETICS; GENE DUPLICATION; GENE EXPRESSION; GENE FUNCTION; HUMAN; MENTAL DEFICIENCY; RETT SYNDROME; REVIEW; X LINKED MENTAL RETARDATION;

EID: 77953545864     PISSN: 15233812     EISSN: None     Source Type: Journal    
DOI: 10.1007/s11920-010-0097-7     Document Type: Review
Times cited : (146)

References (51)
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    • This study showed that MeCP2 is expressed in astrocytes, and glial MeCP2 deficiency contributed to neuronal dendritic morphology defects in a murine model of RTT
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    • This study also showed glial expression and the importance of astrocytes in RTT pathogenesis by spreading MeCP2 deficiency through gap junctions
    • Maezawa I, Swanberg S, Harvey D, et al.: Rett syndrome astrocytes are abnormal and spread MeCP2 deficiency through gap junctions. J Neurosci 2009, 29:5051-5061. This study also showed glial expression and the importance of astrocytes in RTT pathogenesis by spreading MeCP2 deficiency through gap junctions.
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    • Shahbazian M, Young J, Yuva-Paylor L, et al.: Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 2002, 35:243-254.
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    • Giacometti E, Luikenhuis S, Beard C, Jaenisch R: Partial rescue of MeCP2 deficiency by postnatal activation of MeCP2. Proc Natl Acad SciUSA2007, 104:1931-1936. A transgenic gene therapy approach in mice resulted in a partial rescue of RTT phenotype when Mecp2 was expressed postnatally under an inducible promoter.
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    • This study showed a strong rescue effect in a Mecp2-deficient mouse with removable Stop codon. An improvement in neurological symptoms was observed with restored Mecp2 expression, even for previously symptomatic mice, providing hope that RTT and other MECP2-associated disorders may be treatable after birth in humans
    • Guy J, Gan J, Selfridge J, et al.: Reversal of neurological defects in a mouse model of Rett syndrome. Science 2007, 315:1143-1147. This study showed a strong rescue effect in a Mecp2-deficient mouse with removable Stop codon. An improvement in neurological symptoms was observed with restored Mecp2 expression, even for previously symptomatic mice, providing hope that RTT and other MECP2-associated disorders may be treatable after birth in humans.
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    • Recordings of layer 5 cortical pyramidal neurons in slices of Mecp2- deficient mice showed that reduced excitatory synaptic connectivity, rather than the induction of long-term potentiation, was responsible for the decreased excitatory neurotransmission in RTT
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.