FSHD2- and BAMS-associated mutations confer opposing effects on SMCHD1 function

Structural maintenance of chromosomes flexible hinge domain-containing 1 (Smchd1) plays important roles in epigenetic silencing and normal mammalian development. Recently, heterozygous mutations in SMCHD1 have been reported in two disparate disorders: facioscapulohumeral muscular dystrophy type 2 (F...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:J Biol Chem
Prif Awduron: Gurzau, Alexandra D., Chen, Kelan, Xue, Shifeng, Dai, Weiwen, Lucet, Isabelle S., Ly, Thanh Thao Nguyen, Reversade, Bruno, Blewitt, Marnie E., Murphy, James M.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: American Society for Biochemistry and Molecular Biology 2018
Pynciau:
Enzymology
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC6016475/
https://ncbi.nlm.nih.gov/pubmed/29748383
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.RA118.003104
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