2023
Pandey A#, Galeone A, Han SY, Story BA, Consonni G, Mueller WF, Steinmetz LM, Vaccari T and Jafar-Nejad H# (2023). Gut barrier defects, intestinal immune hyperactivation and enhanced lipid catabolism drive lethality in NGLY1-deficient Drosophila. Nature Communications In press. (# corresponding authors)
Ortiz-Vitali JL, Wu J, Xu N, Shieh AW, Niknejad N, Takeuchi M, Paradas C, Lin C, Jafar-Nejad H, Haltiwanger RS, Wang SH and Darabi R (2023). Disease modeling and gene correction of LGMDR21-iPSCs elucidates the role of POGLUT1 in skeletal muscle maintenance, regeneration and satellite cell niche. Molecular Therapy - Nucleic Acids In press.
Niknejad N, Fox D, Burwinkel JL, Zarrin-Khameh N, Cho S, Soriano A, Cast AE, Lopez MF, Huppert KA, Rigo F, Huppert SS, Jafar-Nejad P and Jafar-Nejad H (2023). Antisense oligonucleotide silencing of a glycosyltransferase, Poglut1, improves the liver phenotypes in mouse models of Alagille syndrome. Hepatology in press.
2022
Pandey A and Jafar-Nejad H (2022). Tracing the NGLY1 footprints: Insights from Drosophila. J Biochem 171: 153-160.
Haltiwanger RS, Wells L, Freeze HH, Jafar-Nejad H, Okajima T and Stanley P (2022). Other classes of eukaryotic glycans. In Essentials of Glycobiology, 4th Edition, Cold Spring Harbor Laboratory Press.
Pandey A#, Adams JM, Han SY and Jafar-Nejad H# (2022). NGLY1 deficiency, a congenital disorder of deglycosylation: From disease gene function to pathophysiology. Cells 11: 1155. (# corresponding authors)
2021
Pandey A*, Niknejad N* and Jafar-Nejad H (2021). Multifaceted regulation of Notch signaling by glycosylation. Glycobiology31:8-28. (* equal contribution)
2020
Han SY, Pandey A, Moore TA, Galeone A, Duraine L, Cowan TM and Jafar-Nejad H. A conserved role for AMP-activated protein kinase in NGLY1 deficiency. PLOS Genetics 16(12):e1009258.
Galeone A, Adams JM, Matsuda S, Presa MF, Pandey A, Han SY, Tachida Y, Hirayama H, Vaccari T, Suzuki T, Lutz C, Affolter M, Zuberi A and Jafar-Nejad H (2020). Regulation of BMP4/Dpp retrotranslocation and signaling by deglycosylation. eLife 9:e55596.
Servián-Morilla E, Cabrera-Serrano M, Johnson K, Pandey A, Ito A, Rivas E, Chamova T, Muelas N, Mognini T, Nafissi S, Claeys K, Grewal R, Takeuchi M, Hao H, Bonneman C, Neto OA, Medne L, Brandsema J, Topf A , Vilchez J, Tournev I, Haltiwanger RS, Takeuchi H, Jafar-Nejad H, Straub V, Paradas C (2020). POGLUT1 biallelic mutations cause a myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern. Acta Neuropathologica 139: 565-582. doi.org/10.1007/s00401-019-02117-6.
Adams JM, Huppert KA, Castro EC, Lopez MF, Niknejad N, Subramanian S, Zarrin-Khameh N, Finegold MJ, Huppert SS and Jafar-Nejad H (2020). Sox9 is a modifier of the liver disease severity in a mouse model of Alagille syndrome. Hepatology 71: 1331-1349. doi: 10.1002/hep.30912.
2019
Pandey A*, Harvey BM*, Lopez MF, Ito A, Haltiwanger RS#, and Jafar-Nejad H#. Glycosylation of specific Notch EGF repeats by Ofut1 and Fringe regulates Notch signaling in Drosophila (2019). Cell Reports 29: 2054–2066. (* equal contribution, # corresponding authors)
Adams JM and Jafar-Nejad H (2019). The roles of Notch signaling in liver development and disease. Biomolecules. 9: 608.
Adams JM and Jafar-Nejad H (2019). Determining Bile Duct Density in the Mouse Liver. Journal of Visualized Experiments (JoVE)146: e59587.
Niknejad N and Jafar-Nejad H (2019). Unbiased glycomics: A powerful tool in rare disease diagnosis and research. Translational Research206: 1-4.
2018
Adams JM and Jafar-Nejad H (2018). A new model of Alagille syndrome with broad phenotypic representation. Gastroenterology 154: 803-806.
Pandey A, Li-Kroeger D, Sethi MK, Lee TV, Buettner FFR, Bakker H, Jafar-Nejad H (2018). Sensitized genetic backgrounds reveal differential roles for EGF repeat xylosyltransferases in Drosophila Notch signaling. Glycobiology 28: 849-859.
Pandey A and Jafar-Nejad H (2018). Cell Aggregation Assays to Evaluate the Binding of the Drosophila Notch with Trans-Ligands and Its Inhibition by Cis-Ligands. Journal of Visualized Experiments (JoVE) 131: e56919.
2017
Wu J, Hunt SD, Matthias N, Servián-Morilla E, Lo J, Jafar-Nejad H, Paradas C, Darabi R (2017). Generation of an induced pluripotent stem cell line (CSCRMi001-A) from a patient with a new type of limb-girdle muscular dystrophy (LGMD) due to a missense mutation in POGLUT1 (Rumi). Stem Cell Research 24:102-105
Galeone A, Han SY, Huang C, Hosomi A, Suzuki T, and Jafar-Nejad H (2017). Tissue-specific regulation of BMP signaling by Drosophila N-glycanase 1. eLife 6: e27612.
Lee TV*, Pandey A* and Jafar-Nejad H (2017). Xylosylation of the Notch receptor preserves the balance between its activation by trans-Delta and inhibition by cis-ligands in Drosophila. PLoS Genetics 13(4): e1006723. (* equal contribution)
2016 - 2000
Servián-Morilla E*, Takeuchi H*, Lee TV*, Clarimon J, Mavillard F, Area-Gómez E, Rivas E, Nieto-González JL, Rivero MC, Cabrera M, Gómez-Sánchez L, Martínez-López JA, Estrada B, Márquez C, Morgado Y, Suárez-Calvet X, Pita G, Bigot A, Gallardo E, Fernández-Chacón R, Hirano M, Haltiwanger RS, Jafar-Nejad H, and Paradas C (2016). A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss. EMBO Molecular Medicine 8(11): 1289-1309. (* equal contribution)
Harvey BM*, Rana NA*, Moss H, Leonardi J, Jafar-Nejad H, Haltiwanger RS (2016). Mapping sites of O-glycosylation and fringe elongation on Drosophila Notch. Journal of Biological Chemistry 291(31): 16348-60. (* equal contribution)
Thakurdas SM, Lopez MF, Kakuda S, Fernandez-Valdivia R, Zarrin-Khameh N, Haltiwanger RS, and Jafar-Nejad H (2016). Jagged1 heterozygosity in mice results in a congenital cholangiopathy which is reversed by concomitant deletion of one copy of Poglut1 (Rumi). Hepatology 63(2): 550-65.
Haltom AR and Jafar-Nejad H (2015). The multiple roles of EGF repeat O-glycans in animal development. Glycobiology 25(10): 1027-42.
He P, Grotzke JE, Ng BG, Gunel M, Jafar-Nejad H, Cresswell P, Enns GM, and Freeze HH (2015). A congenital disorder of deglycosylation: Biochemical characterization of N-glycanase 1 deficiency in patient fibroblasts. Glycobiology 25(8): 836-44.
Haltom AR*, Lee TV*, Harvey B, Leonardi J, Chen Y, Hong Y, Haltiwanger RS, and Jafar-Nejad H (2014). The protein O-glucosyltransferase Rumi modifies Eyes shut to promote rhabdomere separation in Drosophila. PLoS Genetics10: e1004795. (* equal contribution)
LeBon L, Lee TV, Sprinzak D, Jafar-Nejad H, and Elowitz MB (2014). Fringe proteins modulate cis and trans Notch-ligand interactions to specify signaling states. eLife 3: e02950.
Haltom AR and Jafar-Nejad H (2014). O-Linked glycans in Drosophila development, Overview. Glycoscience: Biology and Medicine809-815.
Lee TV and Jafar-Nejad H (2014). O-Glucose glycans in Drosophila Notch signaling. Glycoscience: Biology and Medicine849-856.
Leonardi J and Jafar-Nejad H (2014). Structure-function analysis of Drosophila Notch using genomic rescue transgenes. Methods in Molecular Biology 1187: 29-46.
Lee TV, Sethi MK, Leonardi J, Rana NA, Buettner FFR, Haltiwanger RS, Bakker H, and Jafar-Nejad H (2013). Negative regulation of Notch signaling by xylose. PLoS Genetics 9: e1003547.
Takeuchi H, Fernandez-Valdivia R, Caswell DS, Nita-Lazar A, Rana NA, Garner TP, Weldeghiorghis TK, Macnaughtan MA, Jafar-Nejad H, and Haltiwanger RS (2011). Rumi functions as both a protein O-glucosyltransferase and a protein O-xylosyltransferase. Proceedings of the National Academy of Sciences 108: 16600-16605.
Leonardi J*, Fernandez-Valdivia R*, Li Y, Simcox AA, and Jafar-Nejad H (2011). Multiple O-glucosylation sites on Notch function as a buffer against temperature-dependent loss of signaling. Development 138: 3569-3578. (* equal contribution)
Fernandez-Valdivia R, Takeuchi H, Samarghandi A, Lopez M, Leonardi J, Haltiwanger RS, and Jafar-Nejad H (2011). Regulation of mammalian Notch signaling and embryonic development by the protein O-glucosyltransferase Rumi. Development 138: 1925-1934.
Lee TV, Takeuchi H, and Jafar-Nejad H (2010). Regulation of Notch signaling via O-glucosylation: Insights from Drosophila studies. Methods in Enzymology 480: 375-98.
Jafar-Nejad H, Leonardi J, and Fernandez-Valdivia, R (2010). Role of glycans and glycosyltransferases in the regulation of Notch signaling. Glycobiology 20: 931-949.
Simcox AA*, Austin CL, Jacobsen TL, Jafar-Nejad H* (2008). Drosophila embryonic 'fibroblasts': Extending mutant analysis in vitro. Fly 2(6): 306-309. (* corresponding author)
Lim J, Jafar-Nejad H, Hsu YC, Choi KW (2008). Novel function of the class I bHLH protein Daughterless in the negative regulation of proneural gene expression in the Drosophila eye. EMBO Reports 9(11): 1128-33.
Acar M*, Jafar-Nejad H*, Takeuchi H*, Rajan A, Ibrani D, Rana NA, Pan H, Haltiwanger RS, and Bellen HJ (2008). Rumi Is a CAP10 domain glycosyltransferase that modifies Notch and is required for Notch signaling. Cell132(2): 247-58. (* equal contribution)
Rogaeva A, Ou XM, Jafar-Nejad H, Lemonde S and Albert PR (2007). Differential repression by Freud-1/CC2D1A at a polymorphic site in the dopamine-D2 receptor gene. Journal of Biological Chemistry 282(29): 20897-20905.
Acar M*, Jafar-Nejad H*, Giagtzoglou N, Yallampalli S, David G, He Y, Delidakis C and Bellen HJ (2006). Senseless physically interacts with proneural proteins and functions as a transcriptional co-activator. Development133(10): 1979-1989. (* equal contribution)
Jafar-Nejad H, Tien A, Acar M and Bellen HJ (2006). Senseless and Daughterless confer neuronal identity to epithelial cells in the Drosophila wing margin. Development133(9): 1683-1692.
Hamaratoglu F, Willecke M, Kango-Singh M, Nolo R, Hyun E, Tao C, Jafar-Nejad H and Halder G (2006). The tumor suppressor genes NF2/Merlin and Expanded act through Hippo signaling to regulate cell proliferation and apoptosis. Nature Cell Biology 8(1): 27-36.
Jafar-Nejad H, Andrews HK, Acar M, Bayat V, Wirtz-Peitz F, Mehta SQ, Knoblich JA and Bellen HJ (2005). Sec15, a member of the exocyst, promotes Notch signaling during the asymmetric division of Drosophila sensory organ precursors. Developmental Cell 9(3): 351-363.
Tsuda H, Jafar-Nejad H, Patel AJ, Sun Y, Chen H, Rose MF, Venken KJT, Botas J, Orr HT, Bellen HJ and Zoghbi HY (2005). The AXH domain in Ataxin-1 mediates neurodegeneration through its interaction with Gfi-1/Senseless proteins. Cell 122(4): 633-44.
Quan XJ, Denayer T, Yan J, Jafar-Nejad H, Philippi A, Lichtarge O, Vleminckx C and Hassan BA (2004). Evolution of neural precursor selection: functional divergence of proneural proteins. Development 131(8): 1679-89.
Jafar-Nejad H and Bellen HJ (2004). The Gfi/Pag-3/Senseless zinc finger proteins: a unifying theme? Molecular and Cellular Biology 24(20): 8803-12.
Jafar-Nejad H*, Acar M*, Nolo R, Lacin H, Pan H, Parkhurst SM and Bellen HJ (2003). Senseless acts as a binary switch during sensory organ precursor selection. Genes & Development 17(23): 2966-78. (* equal contribution)
Zhai RG, Hiesinger PR, Koh TW, Verstreken P, Schulze KL, Cao Y, Jafar-Nejad H, Norga KK, Pan H, Bayat V, Greenbaum MP and Bellen HJ (2003). Mapping Drosophila mutations with molecularly defined P element insertions. Proceedings of the National Academy of Sciences 100(19): 10860-5.
Ou XM, Lemonde S, Jafar-Nejad H, Bown CD, Goto A, Rogaeva A and Albert PR (2003). Freud-1: A neuronal calcium-regulated repressor of the 5-HT1A receptor gene. Journal of Neuroscience 23(19): 7415-25.
Jafar-Nejad H, Norga K and Bellen HJ (2002). Numb: "Adapting" Notch for endocytosis. Developmental Cell 3(2): 155-6.
Ou XM, Jafar-Nejad H, Storring JM, Meng JH, Lemonde S and Albert PR (2000). Novel dual repressor elements for neuronal cell-specific transcription of the rat 5-HT1A receptor gene. Journal of Biological Chemistry 275(11): 8161-8.