منابع مشابه
Dyskerin, telomerase and the DNA damage response.
The bone marrow failure syndrome Dyskeratosis congenita (DC), though rare, has attracted a great deal of attention in the last few years because it is caused by mutations in genes whose products are involved in telomere maintenance. The disease presents with a variety of features that can all be due to failure of tissues that require constant renewal via stem cell activity. It is thought this i...
متن کاملA new role for human dyskerin in vesicular trafficking
Dyskerin is an essential, conserved, multifunctional protein found in the nucleolus, whose loss of function causes the rare genetic diseases X-linked dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome. To further investigate the wide range of dyskerin's biological roles, we set up stable cell lines able to trigger inducible protein knockdown and allow a detailed analysis of the cascade of...
متن کاملSMN and coilin negatively regulate dyskerin association with telomerase RNA
Telomerase is a ribonucleoprotein comprising telomerase RNA and associated proteins. The formation of the telomerase holoenzyme takes place in the Cajal body (CB), a subnuclear domain that participates in the formation of ribonucleoproteins. CBs also contribute to the delivery of telomerase to telomeres. The protein WRAP53 is enriched within the CB and is instrumental for the targeting of telom...
متن کاملA functional connection between dyskerin and energy metabolism
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 is involved in a variety of essential processes, including telomere maintenance, splicing efficiency, ribosome biogenesis, snoRNAs stabilization and st...
متن کاملDissecting "deception".
“Dissecting Bioethics,” edited by Tuija Takala and Matti Häyry, welcomes contributions on the conceptual and theoretical dimensions of bioethics. The section is dedicated to the idea that words defined by bioethicists and others should not be allowed to imprison people’s actual concerns, emotions, and thoughts. Papers that expose the many meanings of a concept, describe the different readings o...
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ژورنال
عنوان ژورنال: Genome Biology
سال: 2003
ISSN: 1465-6906
DOI: 10.1186/gb-spotlight-20030115-01