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POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern.
Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mongini T, Nafissi S, Claeys KG, Grewal RP, Takeuchi M, Hao H, Bönnemann C, Lopes Abath Neto O, Medne L, Brandsema J, Töpf A, Taneva A, Vilchez JJ, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C. Servián-Morilla E, et al. Among authors: pandey a. Acta Neuropathol. 2020 Mar;139(3):565-582. doi: 10.1007/s00401-019-02117-6. Epub 2020 Jan 3. Acta Neuropathol. 2020. PMID: 31897643 Free PMC article.
Regulation of BMP4/Dpp retrotranslocation and signaling by deglycosylation.
Galeone A, Adams JM, Matsuda S, Presa MF, Pandey A, Han SY, Tachida Y, Hirayama H, Vaccari T, Suzuki T, Lutz CM, Affolter M, Zuberi A, Jafar-Nejad H. Galeone A, et al. Among authors: pandey a. Elife. 2020 Jul 28;9:e55596. doi: 10.7554/eLife.55596. Elife. 2020. PMID: 32720893 Free PMC article.
A conserved role for AMP-activated protein kinase in NGLY1 deficiency.
Han SY, Pandey A, Moore T, Galeone A, Duraine L, Cowan TM, Jafar-Nejad H. Han SY, et al. Among authors: pandey a. PLoS Genet. 2020 Dec 14;16(12):e1009258. doi: 10.1371/journal.pgen.1009258. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33315951 Free PMC article.
5,906 results