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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Enregistré dans:
Détails bibliographiques
Publié dans:J Biol Chem
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: American Society for Biochemistry and Molecular Biology 2017
Sujets:
Molecular Bases of Disease
Accès en ligne: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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