MeCP2 isoform e1 mutant mice recapitulate motor and metabolic phenotypes of Rett syndrome-Reference-Cited by-同舟云学术

MeCP2 isoform e1 mutant mice recapitulate motor and metabolic phenotypes of Rett syndrome

Published:2018-09-04 Issue: Volume: Page:
ISSN:0964-6906
Container-title:Human Molecular Genetics
language:en
Short-container-title:

Author:

Vogel Ciernia Annie¹²³,Yasui Dag H¹,Pride Michael C³⁴,Durbin-Johnson Blythe⁵,Noronha Adriana B¹,Chang Alene¹,Knotts Trina A⁶,Rutkowsky Jennifer R⁶,Ramsey Jon J⁶,Crawley Jacqueline N³⁴,LaSalle Janine M¹²³

Affiliation:

1. Department of Medical Microbiology and Immunology, UC Davis School of Medicine, University of California, Davis, CA, USA

2. UC Davis Genome Center, University of California, Davis, CA, USA

3. UC Davis MIND Institute, University of California, Davis, CA, USA

4. Department of Psychiatry and Behavioral Sciences, UC Davis School of Medicine, University of California, Davis, CA, USA

5. Department of Public Health Sciences, UC Davis School of Medicine, University of California, Davis, CA, USA

6. Department of Molecular Biosciences, UC Davis School of Veterinary Medicine, University of California, Davis, CA, USA

Funder

National Institutes of Health

National Alliance for Research on Schizophrenia and Depression

International Rett Syndrome Foundation

University of California

National Institute of Diabetes and Digestive Kidney Disease

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

Link

http://academic.oup.com/hmg/advance-article-pdf/doi/10.1093/hmg/ddy301/25682745/ddy301.pdf

Reference95 articles.

1. A previously unidentified MECP2 open reading frame defines a new protein isoform relevant to Rett syndrome;Mnatzakanian;Nat. Genet.,2004

2. Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2;Gianakopoulos;Am. J. Med. Genet. Part B Neuropsychiatr. Genet.,2012

3. Novel exon 1 mutations in MECP2 implicate isoform MeCP2-e1 in classical Rett syndrome;Saunders;Am. J. Med. Genet. Part A,2009

4. The major form of MeCP2 has a novel N-terminus generated by alternative splicing;Kriaucionis;Nucleic Acids Res.,2004

5. Mice with an isoform-ablating Mecp2 exon 1 mutation recapitulate the neurologic deficits of Rett syndrome;Yasui;Hum. Mol. Genet.,2014

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