MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression.

Makedonski, Kirill; Abuhatzira, Liron; Kaufman, Yotam; Razin, Aharon; Shemer, Ruth

Makedonski, Kirill; Abuhatzira, Liron; Kaufman, Yotam; Razin, Aharon; Shemer, Ruth.

Affiliation

Makedonski K; Department of Cellular Biochemistry and Human Genetics, The Hebrew University--Hadassah Medical School, Jerusalem, Israel 91120.

Hum Mol Genet ; 14(8): 1049-58, 2005 Apr 15.

Article in En | MEDLINE | ID: mdl-15757975

Subject(s)

Chromosomal Proteins, Non-Histone/deficiency; DNA-Binding Proteins/deficiency; Epigenesis, Genetic; Genomic Imprinting; Rett Syndrome/metabolism; Ubiquitin-Protein Ligases/genetics; Angelman Syndrome/genetics; Angelman Syndrome/metabolism; Animals; Brain/metabolism; Chromosomal Proteins, Non-Histone/genetics; DNA-Binding Proteins/genetics; Humans; Methyl-CpG-Binding Protein 2; Mice; Prader-Willi Syndrome/genetics; Prader-Willi Syndrome/metabolism; Promoter Regions, Genetic; Repressor Proteins/genetics; Rett Syndrome/genetics; Ubiquitin-Protein Ligases/biosynthesis

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Collection: 01-internacional Database: MEDLINE Main subject: Chromosomal Proteins, Non-Histone / Rett Syndrome / Genomic Imprinting / Ubiquitin-Protein Ligases / Epigenesis, Genetic / DNA-Binding Proteins Type of study: Etiology_studies Limits: Animals / Humans Language: En Journal: Hum Mol Genet Journal subject: BIOLOGIA MOLECULAR / GENETICA MEDICA Year: 2005 Document type: Article Country of publication: United kingdom

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