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Biallelic mutations in SNX14 cause a syndromic form of cerebellar atrophy and lysosome-autophagosome dysfunction.
Akizu N, Cantagrel V, Zaki MS, Al-Gazali L, Wang X, Rosti RO, Dikoglu E, Gelot AB, Rosti B, Vaux KK, Scott EM, Silhavy JL, Schroth J, Copeland B, Schaffer AE, Gordts PL, Esko JD, Buschman MD, Field SJ, Napolitano G, Abdel-Salam GM, Ozgul RK, Sagıroglu MS, Azam M, Ismail S, Aglan M, Selim L, Mahmoud IG, Abdel-Hadi S, Badawy AE, Sadek AA, Mojahedi F, Kayserili H, Masri A, Bastaki L, Temtamy S, Müller U, Desguerre I, Casanova JL, Dursun A, Gunel M, Gabriel SB, de Lonlay P, Gleeson JG. Akizu N, et al. Among authors: buschman md. Nat Genet. 2015 May;47(5):528-34. doi: 10.1038/ng.3256. Epub 2015 Apr 6. Nat Genet. 2015. PMID: 25848753 Free PMC article.
MYO18A: An unusual myosin.
Buschman MD, Field SJ. Buschman MD, et al. Adv Biol Regul. 2018 Jan;67:84-92. doi: 10.1016/j.jbior.2017.09.005. Epub 2017 Sep 18. Adv Biol Regul. 2018. PMID: 28942352 Free PMC article. Review.
GOLPH3 links the Golgi, DNA damage, and cancer.
Buschman MD, Rahajeng J, Field SJ. Buschman MD, et al. Cancer Res. 2015 Feb 15;75(4):624-7. doi: 10.1158/0008-5472.CAN-14-3081. Epub 2015 Jan 29. Cancer Res. 2015. PMID: 25634214 Free PMC article. Review.
GOLPH3L antagonizes GOLPH3 to determine Golgi morphology.
Ng MM, Dippold HC, Buschman MD, Noakes CJ, Field SJ. Ng MM, et al. Among authors: buschman md. Mol Biol Cell. 2013 Mar;24(6):796-808. doi: 10.1091/mbc.E12-07-0525. Epub 2013 Jan 23. Mol Biol Cell. 2013. PMID: 23345592 Free PMC article.
DNA damage triggers Golgi dispersal via DNA-PK and GOLPH3.
Farber-Katz SE, Dippold HC, Buschman MD, Peterman MC, Xing M, Noakes CJ, Tat J, Ng MM, Rahajeng J, Cowan DM, Fuchs GJ, Zhou H, Field SJ. Farber-Katz SE, et al. Among authors: buschman md. Cell. 2014 Jan 30;156(3):413-27. doi: 10.1016/j.cell.2013.12.023. Cell. 2014. PMID: 24485452 Free PMC article.
15 results