DNAJC17 is localized in nuclear speckles and interacts with splicing machinery components

DNAJC17 is a heat shock protein (HSP40) family member, identified in mouse as susceptibility gene for congenital hypothyroidism. DNAJC17 knockout mouse embryos die prior to implantation. In humans, germline homozygous mutations in DNAJC17 have been found in syndromic retinal dystrophy patients, whil...

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Detalles Bibliográficos
Autores principales: Pascarella, A., Ferrandino, G., Credendino, S. C., Moccia, C., D’Angelo, F., Miranda, B., D’Ambrosio, C., Bielli, P., Spadaro, O., Ceccarelli, M., Scaloni, A., Sette, C., De Felice, M., De Vita, G., Amendola, E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5958099/
https://www.ncbi.nlm.nih.gov/pubmed/29773831
http://dx.doi.org/10.1038/s41598-018-26093-1

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