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Page 1
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: lirussi l. 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. Among authors: lirussi l. 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.
SMUG1 regulates fat homeostasis leading to a fatty liver phenotype in mice.
Carracedo S, Lirussi L, Alsøe L, Segers F, Wang C, Bartosova Z, Bohov P, Tekin NB, Kong XY, Esbensen QY, Chen L, Wennerström A, Kroustallaki P, Ceolotto D, Tönjes A, Berge RK, Bruheim P, Wong G, Böttcher Y, Halvorsen B, Nilsen H. Carracedo S, et al. Among authors: lirussi l. DNA Repair (Amst). 2022 Dec;120:103410. doi: 10.1016/j.dnarep.2022.103410. Epub 2022 Oct 3. DNA Repair (Amst). 2022. PMID: 36244177
21 results