U.S. Department of Health and Human Services

Laboratory of Cell and Molecular Biology

John A. Hanover, Ph.D., Chief


A selection of recent and significant publications can be viewed below.

Hayward BE, Zhou Y, Kumari D, Usdin K. A Set of Assays for the Comprehensive Analysis of FMR1 Alleles in the Fragile X-Related Disorders. J Mol Diagn. 2016 Aug 8; 18 (2016 Aug 8; 5; 18):762-74. [Full Text/Abstract]
Kumari D, Usdin K. Sustained expression of FMR1 mRNA from reactivated fragile X syndrome alleles after treatment with small molecules that prevent trimethylation of H3K27. Hum Mol Genet. 2016 Jul 4; (2016 Jul 4). [Full Text/Abstract]
Zhao XN, Lokanga R, Allette K, Gazy I, Wu D, Usdin K. A MutSβ-Dependent Contribution of MutSα to Repeat Expansions in Fragile X Premutation Mice?. PLoS Genet. 2016 Jul; 12 (2016 Jul; 7; 12):e1006190. [Full Text/Abstract]
Conca Dioguardi C, Uslu B, Haynes M, Kurus M, Gul M, Miao DQ, De Santis L, Ferrari M, Bellone S, Santin A, Giulivi C, Hoffman G, Usdin K, Johnson J. Granulosa cell and oocyte mitochondrial abnormalities in a mouse model of fragile X primary ovarian insufficiency. Mol Hum Reprod. 2016 Mar 9; 22 (6; 2016 Mar 9; 22):384-96. [Full Text/Abstract]
Erlandson KJ, Bisht H, Weisberg AS, Hyun SI, Hansen BT, Fischer ER, Hinshaw JE, Moss B. Poxviruses Encode a Reticulon-Like Protein that Promotes Membrane Curvature. Cell Rep. 2016 Feb 24; 14 (14; 9; 2016 Feb 24):2084-2091. [Full Text/Abstract]
Haase AD. A Small RNA-Based Immune System Defends Germ Cells against Mobile Genetic Elements. Stem Cells Int. 2016; 2016 (2016):7595791. [Full Text/Abstract]
Sambuughin N, Goldfarb LG, Sivtseva TM, Davydova TK, Vladimirtsev VA, Osakovskiy VL, Danilova AP, Nikitina RS, Ylakhova AN, Diachkovskaya MP, Sundborger AC, Renwick NM, Platonov FA, Hinshaw JE, Toro C. Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2. BMC Neurol. 2015 Oct 30; 15 (15; 2015 Oct 30):223. [Full Text/Abstract]
Zhao XN, Kumari D, Gupta S, Wu D, Evanitsky M, Yang W, Usdin K. Mutsβ generates both expansions and contractions in a mouse model of the Fragile X-associated disorders. Hum Mol Genet. 2015 Sep 29; 24 (2015 Sep 29; 24):7087-96. [Full Text/Abstract]
Kumari D, Hayward B, Nakamura AJ, Bonner WM, Usdin K. Evidence for chromosome fragility at the frataxin locus in Friedreich ataxia. Mutat Res. 2015 Aug 30; 781 (2015 Aug 30; 781):14-21. [Full Text/Abstract]
Mattila JP, Shnyrova AV, Sundborger AC, Hortelano ER, Fuhrmans M, Neumann S, Müller M, Hinshaw JE, Schmid SL, Frolov VA. A hemi-fission intermediate links two mechanistically distinct stages of membrane fission. Nature. 2015 Jun 29; 524 (2015 Jun 29; 524; 7563):109-13. [Full Text/Abstract]
Kumari D, Swaroop M, Southall N, Huang W, Zheng W, Usdin K. High-Throughput Screening to Identify Compounds That Increase Fragile X Mental Retardation Protein Expression in Neural Stem Cells Differentiated From Fragile X Syndrome Patient-Derived Induced Pluripotent Stem Cells. Stem Cells Transl Med. 2015 May 21; 4 (7; 4; 2015 May 21):800-8. [Full Text/Abstract]
Zhao XN, Usdin K. The Repeat Expansion Diseases: The dark side of DNA repair. DNA Repair (Amst). 2015 Apr 30; 32 (32; 2015 Apr 30):96-105. [Full Text/Abstract]
Lokanga RA, Senejani AG, Sweasy JB, Usdin K. Heterozygosity for a hypomorphic polβ mutation reduces the expansion frequency in a mouse model of the fragile x-related disorders. PLoS Genet. 2015 Apr; 11 (2015 Apr; 4; 11):e1005181. [Full Text/Abstract]
Bond MR, Hanover JA. A little sugar goes a long way: the cell biology of O-GlcNAc. J Cell Biol. 2015 Mar 30; 208 (7; 2015 Mar 30; 208):869-80. [Full Text/Abstract]
Zhao XN, Usdin K. The Transcription-Coupled Repair Protein ERCC6/CSB Also Protects Against Repeat Expansion in a Mouse Model of the Fragile X Premutation. Hum Mutat. 2015 Feb 27; 36 (4; 36; 2015 Feb 27):482-7. [Full Text/Abstract]
Usdin K, House NC, Freudenreich CH. Repeat instability during DNA repair: Insights from model systems. Crit Rev Biochem Mol Biol. 2015 Jan 22; 50 (2015 Jan 22; 2; 50):1-26. [Full Text/Abstract]
Keembiyehetty C, Love DC, Harwood KR, Gavrilova O, Comly ME, Hanover JA. Conditional Knock-out Reveals a Requirement for O-Linked N-Acetylglucosaminase (O-GlcNAcase) in Metabolic Homeostasis. J Biol Chem. 2015 Jan 16; 290 (2015 Jan 16; 11; 290):7097-7113. [Full Text/Abstract]
Usdin K, Kumari D. Repeat-mediated epigenetic dysregulation of the FMR1 gene in the fragile X-related disorders. Front Genet. 2015; 6 (2015; 6):192. [Full Text/Abstract]
Lewis BA, Hanover JA. O-GlcNAc and the epigenetic regulation of gene expression. J Biol Chem. 2014 Oct 21; 289 (50; 2014 Oct 21; 289):34440-34448. [Full Text/Abstract]
Kumari D, Bhattacharya A, Nadel J, Moulton K, Zeak NM, Glicksman A, Dobkin C, Brick DJ, Schwartz PH, Smith CB, Klann E, Usdin K. Identification of fragile x syndrome specific molecular markers in human fibroblasts: a useful model to test the efficacy of therapeutic drugs. Hum Mutat. 2014 Sep 16; 35 (35; 2014 Sep 16; 12):1485-94. [Full Text/Abstract]
Adihe Lokanga R, Zhao XN, Entezam A, Usdin K. X inactivation plays a major role in the gender bias in somatic expansion in a mouse model of the fragile X-related disorders: implications for the mechanism of repeat expansion. Hum Mol Genet. 2014 Sep 15; 23 (23; 2014 Sep 15; 18):4985-94. [Full Text/Abstract]
Yang M, Haase AD, Huang FK, Coulis G, Rivera KD, Dickinson BC, Chang CJ, Pappin DJ, Neubert TA, Hannon GJ, Boivin B, Tonks NK. Dephosphorylation of tyrosine 393 in argonaute 2 by protein tyrosine phosphatase 1B regulates gene silencing in oncogenic RAS-induced senescence. Mol Cell. 2014 Sep 4; 55 (2014 Sep 4; 55; 5):782-90. [Full Text/Abstract]
Vigetti D, Deleonibus S, Moretto P, Bowen T, Fischer JW, Grandoch M, Oberhuber A, Love DC, Hanover JA, Cinquetti R, Karousou E, Viola M, D'Angelo ML, Hascall VC, De Luca G, Passi A. Natural Antisense Transcript for Hyaluronan Synthase 2 (HAS2-AS1) Induces Transcription of HAS2 via Protein O-GlcNAcylation. J Biol Chem. 2014 Sep 2; 289 (2014 Sep 2; 42; 289):28816-26. [Full Text/Abstract]
Abd-Elmoniem KZ, Bakalov VK, Matta JR, Muldoon N, Hanover JA, Bondy CA, Gharib AM. X Chromosome Parental Origin and Aortic Stiffness in Turner Syndrome. Clin Endocrinol (Oxf). 2014 Sep; 81 (81; 3; 2014 Sep):467-70. [Full Text/Abstract]
Sundborger AC, Fang S, Heymann JA, Ray P, Chappie JS, Hinshaw JE. A dynamin mutant defines a superconstricted prefission state. Cell Rep. 2014 Aug 7; 8 (8; 2014 Aug 7; 3):734-42. [Full Text/Abstract]
Chen Q, Boulanger A, Hinton DM, Stibitz S. Strong inhibition of fimbrial 3 subunit gene transcription by a novel downstream repressive element in Bordetella pertussis. Mol Microbiol. 2014 Aug; 93 (93; 2014 Aug; 4):748-58. [Full Text/Abstract]
Kumari D, Usdin K. Polycomb group complexes are recruited to reactivated FMR1 alleles in Fragile X syndrome in response to FMR1 transcription. Hum Mol Genet. 2014 Jul 23; 23 (23; 2014 Jul 23; 24):6575-83. [Full Text/Abstract]
Kim EJ, Bond MR, Love DC, Hanover JA. Chemical tools to explore nutrient-driven O-GlcNAc cycling. Crit Rev Biochem Mol Biol. 2014 Jul-Aug; 49 (49; 4; 2014 Jul-Aug):327-42. [Full Text/Abstract]
Prinz WA. Bridging the gap: membrane contact sites in signaling, metabolism, and organelle dynamics. J Cell Biol. 2014 Jun 23; 205 (2014 Jun 23; 6; 205):759-69. [Full Text/Abstract]
Stichelen SO, Abramowitz LK, Hanover JA. X Marks the Spot: Does it matter that O-GlcNAc Transferase is an X-linked gene?. Biochem Biophys Res Commun. 2014 Jun 21; 453 (453; 2; 2014 Jun 21):201-207. [Full Text/Abstract]
Kim EJ, Abramowitz LK, Bond MR, Love DC, Ahn JS, Kang DW, Leucke HF, Kang DW, Hanover JA. Versatile O-GlcNAc Transferase Assay for High-throughput Identification of Enzyme Variants, Substrates, and Inhibitors. Bioconjug Chem. 2014 Jun 18; 25 (25; 6; 2014 Jun 18):1025-30. [Full Text/Abstract]
Yudkin D, Hayward BE, Aladjem MI, Kumari D, Usdin K. Chromosome fragility and the abnormal replication of the FMR1 locus in fragile X syndrome. Hum Mol Genet. 2014 Jun 1; 23 (2014 Jun 1; 23; 11):2940-52. [Full Text/Abstract]
Harwood KR, Hanover JA. Nutrient-driven O-GlcNAc cycling - think globally but act locally. J Cell Sci. 2014 May 1; 127 (127; 2014 May 1; Pt 9):1857-67. [Full Text/Abstract]
Chen J, Miller BF, Furano AV. Repair of naturally occurring mismatches can induce mutations in flanking DNA. Elife. 2014 Apr 29; 3 (3; 2014 Apr 29):e02001. [Full Text/Abstract]
Zhao XN, Usdin K. Gender and Cell-Type Specific Effects of the Transcription Coupled Repair Protein, ERCC6/CSB, on Repeat Expansion in a Mouse Model of the Fragile X-Related Disorders. Hum Mutat. 2014 Mar; 35 (2014 Mar; 35; 3):341-9. [Full Text/Abstract]
Rahman MM, Rosu S, Joseph-Strauss D, Cohen-Fix O. Down-regulation of tricarboxylic acid (TCA) cycle genes blocks progression through the first mitotic division in Caenorhabditis elegans embryos. Proc Natl Acad Sci U S A. 2014 Feb 18; 111 (2014 Feb 18; 7; 111):2602-7. [Full Text/Abstract]
Heald R, Cohen-Fix O. Morphology and function of membrane-bound organelles. Curr Opin Cell Biol. 2014 Feb; 26 (2014 Feb; 26):79-86. [Full Text/Abstract]
Prinz WA. The lipid trade. Nat Rev Mol Cell Biol. 2014 Feb; 15 (2; 15; 2014 Feb):79. [Full Text/Abstract]
Lokanga RA, Zhao XN, Usdin K. The mismatch repair protein MSH2 is rate limiting for repeat expansion in a fragile X premutation mouse model. Hum Mutat. 2014 Jan; 35 (35; 2014 Jan; 1):129-36. [Full Text/Abstract]
Usdin K, Hayward BE, Kumari D, Lokanga RA, Sciascia N, Zhao XN. Repeat-mediated genetic and epigenetic changes at the FMR1 locus in the Fragile X-related disorders. Front Genet. 2014; 5 (2014; 5):226. [Full Text/Abstract]
Sellier C, Usdin K, Pastori C, Peschansky VJ, Tassone F, Charlet-Berguerand N. The multiple molecular facets of fragile X-associated tremor/ataxia syndrome. J Neurodev Disord. 2014; 6 (6; 2014; 1):23. [Full Text/Abstract]
Berman RF, Buijsen RA, Usdin K, Pintado E, Kooy F, Pretto D, Pessah IN, Nelson DL, Zalewski Z, Charlet-Bergeurand N, Willemsen R, Hukema RK. Mouse models of the fragile X premutation and fragile X-associated tremor/ataxia syndrome. J Neurodev Disord. 2014; 6 (6; 2014; 1):25. [Full Text/Abstract]
Sundborger AC, Hinshaw JE. Regulating dynamin dynamics during endocytosis. F1000Prime Rep. 2014; 6 (6; 2014):85. [Full Text/Abstract]
Sarker MM, Zhou M, Rameshwar P, Hanover JA. Functions and Roles of Proteins: Diabetes as a Paradigm. Prog Biophys Mol Biol. 2014 Jan; 114 (2014 Jan; 114; 1):2-7. [Full Text/Abstract]
Abramowitz LK, Olivier-Van Stichelen S, Hanover JA. Chromosome imbalance as a driver of sex disparity in disease. J Genomics. 2014; 2 (2; 2014):77-88. [Full Text/Abstract]
Hsieh ML, James TD, Knipling L, Waddell MB, White S, Hinton DM. Architecture of the Bacteriophage T4 Activator MotA/Promoter DNA Interaction During Sigma Appropriation. J Biol Chem. 2013 Sep 20; 288 (38; 288; 2013 Sep 20):27607-18. [Full Text/Abstract]
Faehnle CR, Elkayam E, Haase AD, Hannon GJ, Joshua-Tor L. The making of a slicer: activation of human Argonaute-1. Cell Rep. 2013 Jun 27; 3 (2013 Jun 27; 6; 3):1901-9. [Full Text/Abstract]
Boulanger A, Chen Q, Hinton DM, Stibitz S. In vivo phosphorylation dynamics of the Bordetella pertussis virulence-controlling response regulator BvgA. Mol Microbiol. 2013 Apr; 88 (2013 Apr; 1; 88):156-72. [Full Text/Abstract]
Iliff AJ, Renoux AJ, Krans A, Usdin K, Sutton MA, Todd PK. Impaired activity-dependent FMRP translation and enhanced mGluR-dependent LTD in Fragile X premutation mice. Hum Mol Genet. 2013 Mar 15; 22 (2013 Mar 15; 6; 22):1180-92. [Full Text/Abstract]
Lokanga RA, Entezam A, Kumari D, Yudkin D, Qin M, Smith CB, Usdin K. Somatic expansion in mouse and human carriers of fragile X premutation alleles. Hum Mutat. 2013 Jan; 34 (34; 1; 2013 Jan):157-66. [Full Text/Abstract]