Novel nephronophthisis-associated variants reveal functional importance of MAPKBP1 dimerization for centriolar recruitment

Biallelic mutations in MAPKBP1 were recently associated with late-onset cilia-independent nephronophthisis. MAPKBP1 was found at mitotic spindle poles but could not be detected at primary cilia or centrosomes. Here, by identification and characterization of novel MAPKBP1 variants, we aimed at furthe...

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Bibliografiska uppgifter
I publikationen:Kidney Int
Huvudupphovsmän: Schönauer, Ria, Jin, Wenjun, Ertel, Anastasia, Nemitz-Kliemchen, Melanie, Panitz, Nydia, Hantmann, Elena, Seidel, Anna, Braun, Daniela A., Shril, Shirlee, Hansen, Matthias, Shahzad, Khurrum, Sandford, Richard, Saunier, Sophie, Benmerah, Alexandre, Bergmann, Carsten, Hildebrandt, Friedhelm, Halbritter, Jan
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2020
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Article
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7690948/
https://ncbi.nlm.nih.gov/pubmed/32505465
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.kint.2020.05.027
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