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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Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Kidney Int
Asıl Yazarlar: 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
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2020
Konular:
Article
Online Erişim: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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