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A homozygous POLR1A variant causes leukodystrophy and affects protein homeostasis.
Misceo D, Lirussi L, Strømme P, Sumathipala D, Guerin A, Wolf NI, Server A, Stensland M, Dalhus B, Tolun A, Kroes HY, Nyman TA, Nilsen HL, Frengen E. Misceo D, et al. Among authors: nilsen hl. Brain. 2023 Aug 1;146(8):3513-3527. doi: 10.1093/brain/awad086. Brain. 2023. PMID: 36917474 Free PMC article.
SMUG1 Promotes Telomere Maintenance through Telomerase RNA Processing.
Kroustallaki P, Lirussi L, Carracedo S, You P, Esbensen QY, Götz A, Jobert L, Alsøe L, Sætrom P, Gagos S, Nilsen H. Kroustallaki P, et al. Cell Rep. 2019 Aug 13;28(7):1690-1702.e10. doi: 10.1016/j.celrep.2019.07.040. Cell Rep. 2019. PMID: 31412240 Free article.
DNA glycosylase Neil3 regulates vascular smooth muscle cell biology during atherosclerosis development.
Quiles-Jiménez A, Gregersen I, Segers FM, Skarpengland T, Kroustallaki P, Yang K, Kong XY, Lauritzen KH, Olsen MB, Karlsen TR, Nyman TA, Sagen EL, Bjerkeli V, Suganthan R, Nygård S, Scheffler K, Prins J, Van der Veer E, Øgaard JD, Fløisand Y, Jørgensen HF, Holven KB, Biessen EA, Nilsen H, Dahl TB, Holm S, Bennett MR, Aukrust P, Bjørås M, Halvorsen B. Quiles-Jiménez A, et al. Atherosclerosis. 2021 May;324:123-132. doi: 10.1016/j.atherosclerosis.2021.02.023. Epub 2021 Feb 23. Atherosclerosis. 2021. PMID: 33714552 Free article.
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Sumathipala D, Strømme P, Fattahi Z, Lüders T, Sheng Y, Kahrizi K, Einarsen IH, Sloan JL, Najmabadi H, van den Heuvel L, Wevers RA, Guerrero-Castillo S, Mørkrid L, Valayannopoulos V, Backe PH, Venditti CP, van Karnebeek CD, Nilsen H, Frengen E, Misceo D. Sumathipala D, et al. Brain. 2022 Jul 29;145(7):2602-2616. doi: 10.1093/brain/awac034. Brain. 2022. PMID: 35104841 Free PMC article.
72 results