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CSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid Formation

Deleterious mutations of the Centrosome/Spindle Pole associated Protein 1 gene, CSPP1, are causative for Joubert-syndrome and Joubert-related developmental disorders. These disorders are defined by a characteristic mal-development of the brain, but frequently involve renal and hepatic cyst formation...

Полное описание

Библиографические подробности
Главные авторы: Sternemalm, Johan, Geimer, Stefan, Frikstad, Kari-Anne M., Schink, Kay O., Stokke, Trond, Patzke, Sebastian
Формат: Online Статья Текст
Язык:English
Опубликовано: Public Library of Science 2015
Предметы:
Online-ссылка:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4524657/
https://www.ncbi.nlm.nih.gov/pubmed/26241740
http://dx.doi.org/10.1371/journal.pone.0134789