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• Predicting the pathogenicity of missense variants based on protein instability to support diagnosis of patients with novel variants of ARSL.

  Aoki E, Manabe N, Ohno S, Aoki T, Furukawa JI, Togayachi A, Aoki-Kinoshita K, Inokuchi JI, Kurosawa K, Kaname T, Yamaguchi Y, Nishihara S. Aoki E, et al. Mol Genet Metab Rep. 2023 Oct 29;37:101016. doi: 10.1016/j.ymgmr.2023.101016. eCollection 2023 Dec. Mol Genet Metab Rep. 2023. PMID: 38053926 Free PMC article.
• Silencing GMPPB Inhibits the Proliferation and Invasion of GBM via Hippo/MMP3 Pathways.

  Huang ZL, Abdallah AS, Shen GX, Suarez M, Feng P, Yu YJ, Wang Y, Zheng SH, Hu YJ, Xiao X, Liu Y, Liu SR, Chen ZP, Li XN, Xia YF. Huang ZL, et al. Int J Mol Sci. 2023 Sep 28;24(19):14707. doi: 10.3390/ijms241914707. Int J Mol Sci. 2023. PMID: 37834154 Free PMC article.
• Mannose metabolism inhibition sensitizes acute myeloid leukaemia cells to therapy by driving ferroptotic cell death.

  Woodley K, Dillingh LS, Giotopoulos G, Madrigal P, Rattigan KM, Philippe C, Dembitz V, Magee AMS, Asby R, van de Lagemaat LN, Mapperley C, James SC, Prehn JHM, Tzelepis K, Rouault-Pierre K, Vassiliou GS, Kranc KR, Helgason GV, Huntly BJP, Gallipoli P. Woodley K, et al. Nat Commun. 2023 Apr 14;14(1):2132. doi: 10.1038/s41467-023-37652-0. Nat Commun. 2023. PMID: 37059720 Free PMC article.
• The genetics of monogenic intestinal epithelial disorders.

  Babcock SJ, Flores-Marin D, Thiagarajah JR. Babcock SJ, et al. Hum Genet. 2023 May;142(5):613-654. doi: 10.1007/s00439-022-02501-5. Epub 2022 Nov 23. Hum Genet. 2023. PMID: 36422736 Free PMC article. Review.
• Treatment Options in Congenital Disorders of Glycosylation.

  Park JH, Marquardt T. Park JH, et al. Front Genet. 2021 Sep 10;12:735348. doi: 10.3389/fgene.2021.735348. eCollection 2021. Front Genet. 2021. PMID: 34567084 Free PMC article. Review.