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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: field sj. 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.
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
Bielas SL, Silhavy JL, Brancati F, Kisseleva MV, Al-Gazali L, Sztriha L, Bayoumi RA, Zaki MS, Abdel-Aleem A, Rosti RO, Kayserili H, Swistun D, Scott LC, Bertini E, Boltshauser E, Fazzi E, Travaglini L, Field SJ, Gayral S, Jacoby M, Schurmans S, Dallapiccola B, Majerus PW, Valente EM, Gleeson JG. Bielas SL, et al. Among authors: field sj. Nat Genet. 2009 Sep;41(9):1032-6. doi: 10.1038/ng.423. Epub 2009 Aug 9. Nat Genet. 2009. PMID: 19668216 Free PMC article.
MYO18A: An unusual myosin.
Buschman MD, Field SJ. Buschman MD, et al. Among authors: field sj. 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.
GOLPH3L antagonizes GOLPH3 to determine Golgi morphology.
Ng MM, Dippold HC, Buschman MD, Noakes CJ, Field SJ. Ng MM, et al. Among authors: field sj. 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.
GOLPH3 links the Golgi, DNA damage, and cancer.
Buschman MD, Rahajeng J, Field SJ. Buschman MD, et al. Among authors: field sj. 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.
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: field sj. Cell. 2014 Jan 30;156(3):413-27. doi: 10.1016/j.cell.2013.12.023. Cell. 2014. PMID: 24485452 Free PMC article.
69 results