Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenita
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.314
Abstract: The inherited bone marrow failure syndrome dyskeratosis congenita (DC) is most frequently caused by mutations in DKC1 (MIM# 300126), the gene encoding NAP57 (aka dyskerin). The typically missense mutations modulate the interaction of NAP57 with… read more here.
Keywords: dyskeratosis congenita; dyskerin; interaction nap57; shq1 mutations ... See more keywords
A functional connection between dyskerin and energy metabolism
Sign Up to like & getrecommendations! Published in 2018 at "Redox Biology"
DOI: 10.1016/j.redox.2017.11.003
Abstract: The human DKC1 gene encodes dyskerin, an evolutionarily conserved nuclear protein whose overexpression represents a common trait of many types of aggressive sporadic cancers. As a crucial component of the nuclear H/ACA snoRNP complexes, dyskerin… read more here.
Keywords: connection dyskerin; functional connection; energy metabolism; dyskerin ... See more keywords