Loss of the Fanconi anemia-associated protein NIPA causes bone marrow failure.
Kreutmair S, Erlacher M, Andrieux G, Istvanffy R, Mueller-Rudorf A, Zwick M, Rückert T, Pantic M, Poggio T, Shoumariyeh K, Mueller TA, Kawaguchi H, Follo M, Klingeberg C, Wlodarski M, Baumann I, Pfeifer D, Kulinski M, Rudelius M, Lemeer S, Kuster B, Dierks C, Peschel C, Cabezas-Wallscheid N, Duque-Afonso J, Zeiser R, Cleary ML, Schindler D, Schmitt-Graeff A, Boerries M, Niemeyer CM, Oostendorp RA, Duyster J, Illert AL.
Kreutmair S, et al.
J Clin Invest. 2020 Jun 1;130(6):2827-2844. doi: 10.1172/JCI126215.
J Clin Invest. 2020.
PMID: 32338640
Free PMC article.
Mechanistically, we showed that NIPA is major player in the Fanconi anemia (FA) pathway, which binds FANCD2 and regulates its nuclear abundance, making it essential for a functional DNA repair/FA/BRCA pathway. In a knockout mouse model, Nipa deficiency led to major …
Mechanistically, we showed that NIPA is major player in the Fanconi anemia (FA) pathway, which binds FANCD2 and regulates its nuclear …