The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform-Reference-Cited by-同舟云学术

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The first missense mutation causing Rett syndrome specifically affecting the MeCP2_e1 isoform

Published:2008-11-26 Issue:2 Volume:10 Page:127-133
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Fichou Yann,Nectoux Juliette,Bahi-Buisson Nadia,Rosas-Vargas Haydeé,Girard Benoit,Chelly Jamel,Bienvenu Thierry

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-008-0161-1.pdf

Reference19 articles.

1. Amir RE, Van den Veyver IB, Wan M, Tran CQ, Francke U, Zoghbi HY (1999) Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2. Nat Genet 23:185–188. doi: 10.1038/13810

2. Kriaucionis S, Bird A (2004) The major form of MeCP2 has a novel N-terminus generated by alternative splicing. Nucleic Acids Res 32:1818–1823. doi: 10.1093/nar/gkh349

3. Mnatzakanian GN, Lohi H, Munteanu I, Alfred SE, Yamada T, MacLeod PJ, Jones JR, Scherer SW, Schanen NC, Friez MJ, Vincent JB, Minassian BA (2004) A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome. Nat Genet 36:339–341. doi: 10.1038/ng1327

4. Amir RE, Fang P, Yu Z, Glaze DG, Percy AK, Zoghbi HY, Roa BB, Van den Veyver IB (2005) Mutations in exon 1 of MECP2 are a rare cause of Rett syndrome. J Med Genet 42:e15. doi: 10.1136/jmg.2004.026161

5. Bartholdi D, Klein A, Weissert M, Koenig N, Baumer A, Boltshauser E, Schinzel A, Berger W, Mátyás G (2006) Clinical profiles of four patients with Rett syndrome carrying a novel exon 1 mutation or genomic rearrangement in the MECP2 gene. Clin Genet 69:319–326. doi: 10.1111/j.1399-0004.2006.00604.x

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1. Transcriptional Inhibition of the Mecp2 Promoter by MeCP2E1 and MeCP2E2 Isoforms Suggests Negative Auto-Regulatory Feedback that can be Moderated by Metformin;Journal of Molecular Neuroscience;2024-01-26

2. TAT-MeCP2 protein variants rescue disease phenotypes in human and mouse models of Rett syndrome;International Journal of Biological Macromolecules;2022-06

3. MeCP2: The Genetic Driver of Rett Syndrome Epigenetics;Frontiers in Genetics;2021-01-21

4. Role of DNA Methyl-CpG-Binding Protein MeCP2 in Rett Syndrome Pathobiology and Mechanism of Disease;Biomolecules;2021-01-08

5. MeCP2 and Chromatin Compartmentalization;Cells;2020-04-03

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