Hamed Jafar-Nejad Lab

Jafar-Nejad Lab Publications

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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 DrosophilaJ 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 pathophysiologyCells  11: 1155. (# corresponding authors)

2021

Pandey A*, Niknejad N* and Jafar-Nejad H (2021). Multifaceted regulation of Notch signaling by glycosylationGlycobiology31:8-28. (* 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 deficiencyPLOS 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 deglycosylationeLife 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 patternActa 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 syndromeHepatology 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 diseaseBiomolecules. 9: 608.

Adams JM and Jafar-Nejad H (2019). Determining Bile Duct Density in the Mouse LiverJournal of Visualized Experiments (JoVE)146: e59587.

Niknejad N and Jafar-Nejad H (2019). Unbiased glycomics: A powerful tool in rare disease diagnosis and researchTranslational Research206: 1-4.
2018

Adams JM and Jafar-Nejad H (2018). A new model of Alagille syndrome with broad phenotypic representationGastroenterology 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 signalingGlycobiology 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 1eLife 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 DrosophilaPLoS 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 lossEMBO 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 NotchJournal 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 developmentGlycobiology 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 fibroblastsGlycobiology 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 DrosophilaPLoS 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 stateseLife 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 transgenesMethods 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 xylosePLoS 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-xylosyltransferaseProceedings 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 signalingDevelopment 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 RumiDevelopment 138: 1925-1934.

Lee TV, Takeuchi H, and Jafar-Nejad H (2010). Regulation of Notch signaling via O-glucosylation: Insights from Drosophila studiesMethods 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 signalingGlycobiology 20: 931-949.

Simcox AA*, Austin CL, Jacobsen TL, Jafar-Nejad H* (2008). Drosophila embryonic 'fibroblasts': Extending mutant analysis in vitroFly 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 eyeEMBO 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 signalingCell132(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 geneJournal 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-activatorDevelopment133(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 marginDevelopment133(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 apoptosisNature 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 precursorsDevelopmental 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 proteinsCell 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 proteinsDevelopment 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 selectionGenes & 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 insertionsProceedings 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 endocytosisDevelopmental 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 geneJournal of Biological Chemistry 275(11): 8161-8.