Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Kari-Anne M Frikstad"'
Autor:
Johan Sternemalm, Stefan Geimer, Kari-Anne M Frikstad, Kay O Schink, Trond Stokke, Sebastian Patzke
Publikováno v:
PLoS ONE, Vol 10, Iss 8, p e0134789 (2015)
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 f
Externí odkaz:
https://doaj.org/article/dce97ab5960547fd95facee072d143e8
Autor:
Kari-Anne M. Frikstad, Elisa Molinari, Marianne Thoresen, Simon A. Ramsbottom, Frances Hughes, Stef J.F. Letteboer, Sania Gilani, Kay O. Schink, Trond Stokke, Stefan Geimer, Lotte B. Pedersen, Rachel H. Giles, Anna Akhmanova, Ronald Roepman, John A. Sayer, Sebastian Patzke
Publikováno v:
Cell Reports, Vol 28, Iss 7, Pp 1907-1922.e6 (2019)
Summary: CEP104 is an evolutionarily conserved centrosomal and ciliary tip protein. CEP104 loss-of-function mutations are reported in patients with Joubert syndrome, but their function in the etiology of ciliopathies is poorly understood. Here, we sh
Externí odkaz:
https://doaj.org/article/64cd3655c3764130ba8e0811b1fe5fe9
Autor:
Ezgi Odabasi, Deniz Conkar, Jovana Deretic, Umut Batman, Kari-Anne M. Frikstad, Sebastian Patzke, Elif Nur Firat-Karalar
Publikováno v:
Journal of Cell Science. 136
The primary cilium is a microtubule-based organelle that serves as a hub for many signaling pathways. It functions as part of the centrosome or cilium complex, which also contains the basal body and the centriolar satellites. Little is known about th
Autor:
Cyntha M. van den Berg, Vladimir A. Volkov, Sebastian Schnorrenberg, Ziqiang Huang, Kelly E. Stecker, Ilya Grigoriev, Sania Gilani, Kari-Anne M. Frikstad, Sebastian Patzke, Timo Zimmermann, Marileen Dogterom, Anna Akhmanova
Publikováno v:
The Journal of Cell Biology, 222(4)
Microtubules are dynamic cytoskeletal polymers, and their organization and stability are tightly regulated by numerous cellular factors. While regulatory proteins controlling the formation of interphase microtubule arrays and mitotic spindles have be
Autor:
Dan Doherty, Nadine Bachmann, Rachel H. Giles, Erica E. Davis, Asbjørn Holmgren, Dulika S. Sumathipala, Barbara Käsmann-Kellner, Lokuliyange D S Senaratne, Suzanne Crowley, Sebastian Patzke, Nicholas Katsanis, Petter Strømme, Daniel Epting, Christian Decker, Kari-Anne M Frikstad, Carsten Bergmann, Manuela Zucknick, Diana Bracht, Tuva Barøy, Elisabeth Ott, Eva Decker, Soeren S. Lienkamp, Doriana Misceo, Ian G. Phelps, Heymut Omran, Miriam Schmidts, Alma Sikiric, Selma Mujezinovic Larsen, Julia Wallmeier, Eirik Frengen
Publikováno v:
Human Mutation
Ciliopathies are clinically and genetically heterogeneous diseases. We studied three patients from two independent families presenting with features of Joubert syndrome: abnormal breathing pattern during infancy, developmental delay/intellectual disa