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Page 1
OTUD7A Regulates Neurodevelopmental Phenotypes in the 15q13.3 Microdeletion Syndrome.
Uddin M, Unda BK, Kwan V, Holzapfel NT, White SH, Chalil L, Woodbury-Smith M, Ho KS, Harward E, Murtaza N, Dave B, Pellecchia G, D'Abate L, Nalpathamkalam T, Lamoureux S, Wei J, Speevak M, Stavropoulos J, Hope KJ, Doble BW, Nielsen J, Wassman ER, Scherer SW, Singh KK. Uddin M, et al. Among authors: holzapfel nt. Am J Hum Genet. 2018 Feb 1;102(2):278-295. doi: 10.1016/j.ajhg.2018.01.006. Am J Hum Genet. 2018. PMID: 29395074 Free PMC article.
Loss-of-function PCSK9 mutants evade the unfolded protein response sensor GRP78 and fail to induce endoplasmic reticulum stress when retained.
Lebeau P, Platko K, Al-Hashimi AA, Byun JH, Lhoták Š, Holzapfel N, Gyulay G, Igdoura SA, Cool DR, Trigatti B, Seidah NG, Austin RC. Lebeau P, et al. Among authors: holzapfel n. J Biol Chem. 2018 May 11;293(19):7329-7343. doi: 10.1074/jbc.RA117.001049. Epub 2018 Mar 28. J Biol Chem. 2018. PMID: 29593095 Free PMC article.
GDF10 blocks hepatic PPARγ activation to protect against diet-induced liver injury.
Platko K, Lebeau PF, Byun JH, Poon SV, Day EA, MacDonald ME, Holzapfel N, Mejia-Benitez A, Maclean KN, Krepinsky JC, Austin RC. Platko K, et al. Among authors: holzapfel n. Mol Metab. 2019 Sep;27:62-74. doi: 10.1016/j.molmet.2019.06.021. Epub 2019 Jun 28. Mol Metab. 2019. PMID: 31288993 Free PMC article.
Whole-genome sequencing of 20 cholangiocarcinoma cases reveals unique profiles in patients with cirrhosis and primary sclerosing cholangitis.
Holzapfel N, Zhang A, Choi WJ, Denroche R, Jang G, Dodd A, Bucur R, Wilson J, Sapisochin G, Notta F, Grant RC, Gallinger S, Knox JJ, O'Kane GM. Holzapfel N, et al. J Gastrointest Oncol. 2023 Feb 28;14(1):379-389. doi: 10.21037/jgo-22-676. Epub 2023 Feb 3. J Gastrointest Oncol. 2023. PMID: 36915452 Free PMC article.
28 results