A Novel Kleefstra Syndrome-associated Variant That Affects the Conserved TPLX Motif within the Ankyrin Repeat of EHMT1 Leads to Abnormal Protein Folding

Kleefstra syndrome (KS) (Mendelian Inheritance in Man (MIM) no. 610253), also known as 9q34 deletion syndrome, is an autosomal dominant disorder caused by haploinsufficiency of euchromatic histone methyltransferase-1 (EHMT1). The clinical phenotype of KS includes moderate to severe intellectual disa...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Blackburn, Patrick R., Tischer, Alexander, Zimmermann, Michael T., Kemppainen, Jennifer L., Sastry, Sujatha, Knight Johnson, Amy E., Cousin, Margot A., Boczek, Nicole J., Oliver, Gavin, Misra, Vinod K., Gavrilova, Ralitza H., Lomberk, Gwen, Auton, Matthew, Urrutia, Raul, Klee, Eric W.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2017
Assuntos:
Molecular Bases of Disease
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5339767/
https://ncbi.nlm.nih.gov/pubmed/28057753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.770545
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