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ZNHIT3 is defective in PEHO syndrome, a severe encephalopathy with cerebellar granule neuron loss.
Anttonen AK, Laari A, Kousi M, Yang YJ, Jääskeläinen T, Somer M, Siintola E, Jakkula E, Muona M, Tegelberg S, Lönnqvist T, Pihko H, Valanne L, Paetau A, Lun MP, Hästbacka J, Kopra O, Joensuu T, Katsanis N, Lehtinen MK, Palvimo JJ, Lehesjoki AE. Anttonen AK, et al. Among authors: palvimo jj. Brain. 2017 May 1;140(5):1267-1279. doi: 10.1093/brain/awx040. Brain. 2017. PMID: 28335020
PIAS proteins: pleiotropic interactors associated with SUMO.
Rytinki MM, Kaikkonen S, Pehkonen P, Jääskeläinen T, Palvimo JJ. Rytinki MM, et al. Among authors: palvimo jj. Cell Mol Life Sci. 2009 Sep;66(18):3029-41. doi: 10.1007/s00018-009-0061-z. Epub 2009 Jun 13. Cell Mol Life Sci. 2009. PMID: 19526197 Free PMC article. Review.
196 results