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Select item 109872901.

GNE deficiency impairs Myogenesis in C2C12 cells and cannot be rescued by ManNAc supplementation

Carolin T Neu, Linus Weilepp, Kaya Bork, Astrid Gesper, Rüdiger Horstkorte

Glycobiology. 2024 Mar; 34(3): cwae004. Published online 2024 Jan 15. doi: 10.1093/glycob/cwae004

PMCID:: PMC10987290

Abstract Article PDF–1.8M

Select item 109176602.

Genetic determinants of micronucleus formation in vivo

D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus

Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0

PMCID:: PMC10917660

Abstract Article PDF–4.8M

Select item 108796833.

Novel GNE missense variants impair de novo sialylation and cause defective angiogenesis in the developing brain in mice

Lulu Huang, Yuji Kondo, Lijuan Cao, Jingjing Han, Tianyi Li, Bin Zuo, Fei Yang, Yun Li, Zhenni Ma, Xia Bai, Miao Jiang, Changgeng Ruan, Lijun Xia

Blood Adv. 2024 Feb 27; 8(4): 991–1001. Published online 2024 Jan 20. doi: 10.1182/bloodadvances.2023011490

PMCID:: PMC10879683

Abstract Article PDF–4.4M

Select item 105831744.

Hepatic sialic acid synthesis modulates glucose homeostasis in both liver and skeletal muscle

Jun Peng, Liming Yu, Linzhang Huang, Vivian A. Paschoal, Haiyan Chu, Camila O. de Souza, Joseph V. Varre, Da Young Oh, Jennifer J. Kohler, Xue Xiao, Lin Xu, William L. Holland, Philip W. Shaul, Chieko Mineo

Mol Metab. 2023 Dec; 78: 101812. Published online 2023 Sep 28. doi: 10.1016/j.molmet.2023.101812

PMCID:: PMC10583174

Abstract Article PDF–4.0M

Select item 95523225.

In vivo and in vitro genome editing to explore GNE functions

Nili Ilouz, Avi Harazi, Miriam Guttman, Alon Daya, Shmuel Ruppo, Lena Yakovlev, Stella Mitrani-Rosenbaum

Front Genome Ed. 2022; 4: 930110. Published online 2022 Sep 27. doi: 10.3389/fgeed.2022.930110

PMCID:: PMC9552322

Abstract Article PDF–4.1M

Select item 83132396.

Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development

Francesco Bedogni, Robert F. Hevner

Front Mol Neurosci. 2021; 14: 686034. Published online 2021 Jul 12. doi: 10.3389/fnmol.2021.686034

PMCID:: PMC8313239

Abstract Article PDF–1.6M

Select item 74159917.

BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING)

Kou Motani, Hidetaka Kosako

J Biol Chem. 2020 Aug 7; 295(32): 11174–11183. Published online 2020 Jun 17. doi: 10.1074/jbc.RA120.014323

PMCID:: PMC7415991

Abstract Article PDF–2.0M

Select item 71759398.

Upregulation of Hallmark Muscle Genes Protects Gne^M743T/M743T Mutated Knock-In Mice From Kidney and Muscle Phenotype

Hadar Benyamini, Yehuda Kling, Lena Yakovlev, Michal Becker Cohen, Yuval Nevo, Sharona Elgavish, Avi Harazi, Zohar Argov, Ilan Sela, Stella Mitrani-Rosenbaum

J Neuromuscul Dis. 2020; 7(2): 119–136. Prepublished online 2020 Jan 23. Published online 2020 Mar 20. doi: 10.3233/JND-190461

PMCID:: PMC7175939

Abstract Article PDF–2.2M

Select item 67253949.

Telencephalic Embryonic Subtractive Sequences: A Unique Collection of Neurodevelopmental Genes

Alessandro Bulfone, Pietro Carotenuto, Andrea Faedo, Veruska Aglio, Livia Garzia, Anna Maria Bello, Andrea Basile, Alessandra Andrè, Massimo Cocchia, Ombretta Guardiola, Andrea Ballabio, John L. R. Rubenstein, Massimo Zollo

J Neurosci. 2005 Aug 17; 25(33): 7586–7600. doi: 10.1523/JNEUROSCI.0522-05.2005

PMCID:: PMC6725394

Abstract Article PDF–682K

Select item 650933210.

Galactosyl carbohydrate residues on hematopoietic stem/progenitor cells are essential for homing and engraftment to the bone marrow

Soichiro Takagaki, Rieko Yamashita, Noriyoshi Hashimoto, Kazushi Sugihara, Kanako Kanari, Keisuke Tabata, Toshikazu Nishie, Shogo Oka, Masanori Miyanishi, Chie Naruse, Masahide Asano

Sci Rep. 2019; 9: 7133. Published online 2019 May 9. doi: 10.1038/s41598-019-43551-6

PMCID:: PMC6509332

Abstract Article PDF–3.0M

Select item 607518511.

Sialic acid deficiency is associated with oxidative stress leading to muscle atrophy and weakness in GNE myopathy

Anna Cho, May Christine, V. Malicdan, Miho Miyakawa, Ikuya Nonaka, Ichizo Nishino, Satoru Noguchi

Hum Mol Genet. 2017 Aug 15; 26(16): 3081–3093. Published online 2017 May 13. doi: 10.1093/hmg/ddx192

PMCID:: PMC6075185

Abstract Article PDF–881K

Select item 534036912.

Substantial deficiency of free sialic acid in muscles of patients with GNE myopathy and in a mouse model

Yiumo Michael Chan, Paul Lee, Steve Jungles, Gabrielle Morris, Jaclyn Cadaoas, Alison Skrinar, Michel Vellard, Emil Kakkis

PLoS One. 2017; 12(3): e0173261. Published online 2017 Mar 7. doi: 10.1371/journal.pone.0173261

PMCID:: PMC5340369

Abstract Article PDF–1.3M

Select item 417204513.

Sialyllactose ameliorates myopathic phenotypes in symptomatic GNE myopathy model mice

Takahiro Yonekawa, May Christine V. Malicdan, Anna Cho, Yukiko K. Hayashi, Ikuya Nonaka, Toshiki Mine, Takeshi Yamamoto, Ichizo Nishino, Satoru Noguchi

Brain. 2014 Oct; 137(10): 2670–2679. Published online 2014 Jul 24. doi: 10.1093/brain/awu210

PMCID:: PMC4172045

Abstract Article PDF–1.1M

Select item 416166514.

UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE), a master regulator of sialic acid synthesis

Stephan Hinderlich, Wenke Weidemann, Tal Yardeni, Rüdiger Horstkorte, Marjan Huizing

Top Curr Chem. Author manuscript; available in PMC 2016 Jan 1.

Published in final edited form as: Top Curr Chem. 2015; 366: 97–137. doi: 10.1007/128_2013_464

PMCID:: PMC4161665

Article PDF–1.3M

Select item 385965415.

Sialylation and Muscle Performance: Sialic Acid Is a Marker of Muscle Ageing

Frank Hanisch, Wenke Weidemann, Mona Großmann, Pushpa Raj Joshi, Hans-Jürgen Holzhausen, Gisela Stoltenburg, Joachim Weis, Stephan Zierz, Rüdiger Horstkorte

PLoS One. 2013; 8(12): e80520. Published online 2013 Dec 11. doi: 10.1371/journal.pone.0080520

PMCID:: PMC3859654

Abstract Article PDF–302K

Select item 362283816.

Murine isoforms of UDP-GlcNAc 2-epimerase/ManNAc kinase: Secondary structures, expression profiles, and response to ManNAc therapy

Tal Yardeni, Katherine Jacobs, Terren K. Niethamer, Carla Ciccone, Yair Anikster, Natalya Kurochkina, William A. Gahl, Marjan Huizing

Glycoconj J. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: Glycoconj J. 2013 Aug; 30(6): 609–618. Published online 2012 Dec 25. doi: 10.1007/s10719-012-9459-1

PMCID:: PMC3622838

Abstract Article PDF–2.2M

Select item 357241017.

A conditional knockout resource for the genome–wide study of mouse gene function

William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley

Nature. Author manuscript; available in PMC 2013 Feb 14.

Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163

PMCID:: PMC3572410

Abstract Article PDF–1.1M

Select item 350416418.

Oral monosaccharide therapies to reverse renal and muscle hyposialylation in a mouse model of GNE myopathy

Terren K. Niethamer, Tal Yardeni, Petcharat Leoyklang, Carla Ciccone, Adrian Astiz-Martinez, Katherine Jacobs, Heidi M. Dorward, Patricia M. Zerfas, William A. Gahl, Marjan Huizing

Mol Genet Metab. Author manuscript; available in PMC 2013 Dec 1.

Published in final edited form as: Mol Genet Metab. 2012 Dec; 107(4): 748–755. Published online 2012 Oct 18. doi: 10.1016/j.ymgme.2012.10.011

PMCID:: PMC3504164

Abstract Article PDF–2.5M

Select item 334989619.

The Gne M712T Mouse as a Model for Human Glomerulopathy

Sravan Kakani, Tal Yardeni, Justin Poling, Carla Ciccone, Terren Niethamer, Enriko D. Klootwijk, Irini Manoli, Daniel Darvish, Shelley Hoogstraten-Miller, Patricia Zerfas, E. Tian, Kelly G. Ten Hagen, Jeffrey B. Kopp, William A. Gahl, Marjan Huizing

Am J Pathol. 2012 Apr; 180(4): 1431–1440. doi: 10.1016/j.ajpath.2011.12.023

PMCID:: PMC3349896

Abstract Article PDF–2.1M

Select item 325826420.

Glycoprotein Hyposialylation Gives Rise to a Nephrotic-Like Syndrome That Is Prevented by Sialic Acid Administration in GNE V572L Point-Mutant Mice

Mitutoshi Ito, Kazushi Sugihara, Tomoya Asaka, Tadashi Toyama, Toru Yoshihara, Kengo Furuichi, Takashi Wada, Masahide Asano

PLoS One. 2012; 7(1): e29873. Published online 2012 Jan 13. doi: 10.1371/journal.pone.0029873

PMCID:: PMC3258264

Abstract Article PDF–4.4M

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