Relevance of GJC2 promoter mutation in Pelizaeus-Merzbacher-like disease

Annals of Neurology

Volumn 71, Issue 1, 2012, Pages 146-148

  Combes, Patricia ^a,b   Kammoun, Nadège ^c,d   Monnier, Aurélie ^a,b   Gonthier Guéret, Céline ^a   Giraud, Geneviève ^a   Bertini, Enrico ^e   Chahnez, Triki ^c   Fakhfakh, Faiza ^d   Boespflug Tanguy, Odile ^a,f,g   Vaurs Barriãre, Catherine ^a  

^a UNIVERSITÉ CLERMONT AUVERGNE   (France)

^b UNIVERSITY HOSPITAL OF CLERMONT FERRAND   (France)

^c UNIVERSITY OF SFAX   (Tunisia)

^d Medicine Faculty   (Tunisia)

^e BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^f HÔPITAL ROBERT DEBRÉ   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA FRAGMENT; GJC2 PROTEIN; LUCIFERASE; PROTEIN; TRANSCRIPTION FACTOR SOX10; TRANSCRIPTION FACTOR SOX9; UNCLASSIFIED DRUG;

BINDING SITE; CONTROLLED STUDY; GENE MUTATION; GENE SEQUENCE; GENETIC TRANSCRIPTION; GENETIC TRANSFECTION; GLIA CELL; HUMAN; HUMAN CELL; LETTER; MOLECULAR CLONING; OLIGODENDROGLIA; PELIZAEUS MERZBACHER DISEASE; PREDICTIVE VALUE; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; WILD TYPE;

CONNEXINS; FEMALE; HUMANS; PELIZAEUS-MERZBACHER DISEASE; SOXE TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

EID: 84856219976     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.22295     Document Type: Letter

References (5)

1. Osaka H, Hamanoue H, Yamamoto R, et al. Disrupted SOX10 regulation of GJC2 transcription causes Pelizaeus-Merzbacher-like disease. Ann Neurol 2010; 68: 250-254.
2. Henneke M, Combes P, Diekmann S, et al. GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease. Neurology 2008; 70: 748-754.
3. Schlierf B, Werner T, Glaser G, et al. Expression of connexin47 in oligodendrocytes is regulated by the Sox10 transcription factor. J Mol Biol 2006; 361: 11-21. (Pubitemid 44041452)
4. Stolt CC, Wegner M,. SoxE function in vertebrate nervous system development. Int J Biochem Cell Biol 2010; 42: 437-440.
5. Ruf N, Uhlenberg B,. Analysis of human alternative first exons and copy number variation of the GJA12 gene in patients with Pelizaeus-Merzbacher-like disease. Am J Med Genet B Neuropsychiatr Genet 2009; 150B: 226-232.