Ube3a mRNA and protein expression are not decreased in Mecp2 mutant mice
نویسندگان
چکیده
Amy Lawson-Yuen, Daniel Liu, Liqun Han, Zhichun I. Jiang, Guochuan E. Tsai, Alo C. Basu, Jonathan Picker, Jiamin Feng, Joseph T. Coyle⁎ Department of Psychiatry, Harvard Medical School, McLean Hospital, Belmont, MA 02478, USA Department of Genetics, Children's Hospital Boston, Boston, MA 02115, USA Department of Psychiatry, Los Angeles Institute at Harbor–UCLA Medical Center, Torrance, CA 90502, USA
منابع مشابه
Ube3a expression is not altered in Mecp2 mutant mice.
Rett syndrome (RTT) is a neurodevelopmental disorder characterized by cognitive regression, loss of purposeful hand movements and speech, stereotypies, ataxia, seizures, mental retardation and acquired microcephaly. Mutations in MECP2, encoding methyl-CpG-binding protein 2, are responsible for approximately 90% of classic RTT cases. RTT displays phenotypic overlap with Angelman syndrome, a diso...
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Autism is a common neurodevelopmental disorder of complex genetic etiology. Rett syndrome, an X-linked dominant disorder caused by MECP2 mutations, and Angelman syndrome, an imprinted disorder caused by maternal 15q11-q13 or UBE3A deficiency, have phenotypic and genetic overlap with autism. MECP2 encodes methyl-CpG-binding protein 2 that acts as a transcriptional repressor for methylated gene c...
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Clinical, epidemiological, and genetic evidence suggest overlapping pathogenic mechanisms between autism spectrum disorder (ASD) and schizophrenia. We tested this hypothesis by asking if mutations in the ASD gene MECP2 which cause Rett syndrome affect the expression of genes encoding the schizophrenia risk factor dysbindin, a subunit of the biogenesis of lysosome-related organelles complex-1 (B...
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