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Items: 1 to 20 of 42

1.
Congenital Disorder of Glycosylation Type Ik (CDG-Ik): A Defect of Mannosyltransferase I
Christian Kranz, Jonas Denecke, Ludwig Lehle, Kristina Sohlbach, Stefanie Jeske, Friedhelm Meinhardt, Rainer Rossi, Sonja Gudowius, Thorsten Marquardt
Am J Hum Genet. 2004 Mar; 74(3): 545–551. Published online 2004 Feb 17. doi: 10.1086/382493
PMCID:
PMC1182267
ArticlePDF–209K
2.
Deficiency of GDP-Man:GlcNAc2-PP-Dolichol Mannosyltransferase Causes Congenital Disorder of Glycosylation Type Ik
Markus Schwarz, Christian Thiel, Jürgen Lübbehusen, Bert Dorland, Tom de Koning, Kurt von Figura, Ludwig Lehle, Christian Körner
Am J Hum Genet. 2004 Mar; 74(3): 472–481. Published online 2004 Feb 16. doi: 10.1086/382492
PMCID:
PMC1182261
ArticlePDF–249K
3.
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis
J M van de Kamp, D J Lefeber, G J G Ruijter, S J Steggerda, N S den Hollander, S M Willems, G Matthijs, B J H M Poorthuis, R A Wevers
J Med Genet. 2007 Apr; 44(4): 277–280. Published online 2006 Dec 8. doi: 10.1136/jmg.2006.044735
PMCID:
PMC2598051
ArticlePDF–251K
4.
Tryptophan C-mannosylation is critical for Plasmodium falciparum transmission
Sash Lopaticki, Robyn McConville, Alan John, Niall Geoghegan, Shihab Deen Mohamed, Lisa Verzier, Ryan W. J. Steel, Cindy Evelyn, Matthew T. O’Neill, Niccolay Madiedo Soler, Nichollas E. Scott, Kelly L. Rogers, Ethan D. Goddard-Borger, Justin A. Boddey
Nat Commun. 2022; 13: 4400. Published online 2022 Jul 29. doi: 10.1038/s41467-022-32076-8
Correction in:
Nat Commun. 2022; 13: 4944.
PMCID:
PMC9338275
ArticlePDF–5.6M
5.
ATM loss disrupts the autophagy-lysosomal pathway
Aifang Cheng, Kai-Hei Tse, Hei-Man Chow, Yunqiao Gan, Xuan Song, Fulin Ma, Yi Xuan Yvonne Qian, Weiyi She, Karl Herrup
Autophagy. 2021; 17(8): 1998–2010. Published online 2020 Aug 14. doi: 10.1080/15548627.2020.1805860
PMCID:
PMC8386711
ArticlePDF–7.2M
6.
A patient-based medaka alg2 mutant as a model for hypo-N-glycosylation
Sevinç Gücüm, Roman Sakson, Marcus Hoffmann, Valerian Grote, Clara Becker, Kaisa Pakari, Lars Beedgen, Christian Thiel, Erdmann Rapp, Thomas Ruppert, Thomas Thumberger, Joachim Wittbrodt
Development. 2021 Jun 1; 148(11): dev199385. Published online 2021 Jun 7. doi: 10.1242/dev.199385
PMCID:
PMC8217707
Article
7.
ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings
Martina Farolfi, Anna Cechova, Nina Ondruskova, Jana Zidkova, Bohdan Kousal, Hana Hansikova, Tomas Honzik, Petra Liskova
BMC Ophthalmol. 2021; 21: 249. Published online 2021 Jun 5. doi: 10.1186/s12886-021-02013-2
PMCID:
PMC8180164
ArticlePDF–920K
8.
Expanding the Clinical and Metabolic Phenotype of DPM2 deficient Congenital Disorders of Glycosylation
Silvia Radenkovic, Taylor Fitzpatrick-Schmidt, Seul Kee Byeon, Anil K. Madugundu, Mayank Saraswat, Angie Lichty, Sunnie YW Wong, Stephen McGee, Katharine Kubiak, Anna Ligezka, Wasantha Ranatunga, Yuebo Zhang, Tim Wood, Michael J Friez, Katie Clarkson, Akhilesh Pandey, Julie R Jones, Eva Morava
Mol Genet Metab. Author manuscript; available in PMC 2022 Jan 1.
Published in final edited form as: Mol Genet Metab. 2021 Jan; 132(1): 27–37. Published online 2020 Oct 17. doi: 10.1016/j.ymgme.2020.10.007
PMCID:
PMC7855207
ArticlePDF–2.0M
9.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases
Yoshiko Murakami, Thi Tuyet Mai Nguyen, Nissan Baratang, Praveen K. Raju, Alexej Knaus, Sian Ellard, Gabriela Jones, Baiba Lace, Justine Rousseau, Norbert Fonya Ajeawung, Atsushi Kamei, Gaku Minase, Manami Akasaka, Nami Araya, Eriko Koshimizu, Jenneke van den Ende, Florian Erger, Janine Altmüller, Zita Krumina, Jurgis Strautmanis, Inna Inashkina, Janis Stavusis, Areeg El-Gharbawy, Jessica Sebastian, Ratna Dua Puri, Samarth Kulshrestha, Ishwar C. Verma, Esther M. Maier, Tobias B. Haack, Anil Israni, Julia Baptista, Adam Gunning, Jill A. Rosenfeld, Pengfei Liu, Marieke Joosten, María Eugenia Rocha, Mais O. Hashem, Hesham M. Aldhalaan, Fowzan S. Alkuraya, Satoko Miyatake, Naomichi Matsumoto, Peter M. Krawitz, Elsa Rossignol, Taroh Kinoshita, Philippe M. Campeau
Am J Hum Genet. 2019 Aug 1; 105(2): 384–394. Published online 2019 Jun 27. doi: 10.1016/j.ajhg.2019.05.019
PMCID:
PMC6698938
ArticlePDF–2.3M
10.
Impairment of photoreceptor ribbon synapses in a novel Pomt1 conditional knockout mouse model of dystroglycanopathy
Marcos Rubio-Fernández, Mary Luz Uribe, Javier Vicente-Tejedor, Francisco Germain, Cristina Susín-Lara, Cristina Quereda, Lluis Montoliu, Pedro de la Villa, José Martín-Nieto, Jesús Cruces
Sci Rep. 2018; 8: 8543. Published online 2018 Jun 4. doi: 10.1038/s41598-018-26855-x
PMCID:
PMC5986861
ArticlePDF–4.7M
11.
The adaptive landscape of wildtype and glycosylation-deficient populations of the industrial yeast Pichia pastoris
Josef W. Moser, Iain B. H. Wilson, Martin Dragosits
BMC Genomics. 2017; 18: 597. Published online 2017 Aug 10. doi: 10.1186/s12864-017-3952-7
PMCID:
PMC5553748
ArticlePDF–2.5M
12.
Mammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2
Ida Signe Bohse Larsen, Yoshiki Narimatsu, Hiren Jitendra Joshi, Zhang Yang, Oliver J. Harrison, Julia Brasch, Lawrence Shapiro, Barry Honig, Sergey Y. Vakhrushev, Henrik Clausen, Adnan Halim
J Biol Chem. 2017 Jul 7; 292(27): 11586–11598. Published online 2017 May 16. doi: 10.1074/jbc.M117.794487
PMCID:
PMC5500819
ArticlePDF–1.7M
13.
Classical galactosaemia: novel insights in IgG N-glycosylation and N-glycan biosynthesis
Ashwini Maratha, Henning Stockmann, Karen P Coss, M Estela Rubio-Gozalbo, Ina Knerr, Maria Fitzgibbon, Terri P McVeigh, Patricia Foley, Catherine Moss, Hugh-Owen Colhoun, Britt van Erven, Kelly Stephens, Peter Doran, Pauline Rudd, Eileen Treacy
Eur J Hum Genet. 2016 Jul; 24(7): 976–984. Published online 2016 Jan 6. doi: 10.1038/ejhg.2015.254
PMCID:
PMC5070905
ArticlePDF–2.0M
14.
CONGENITAL NEPHROTIC SYNDROME IN AN INFANT WITH ALG1-CONGENITAL DISORDER OF GLYCOSYLATION
L.A. Harshman, B.G. Ng, H.H. Freeze, P. Trapane, A. Dolzeal, P.D. Brophy, J.E. Brumbaugh
Pediatr Int. Author manuscript; available in PMC 2017 Aug 1.
Published in final edited form as: Pediatr Int. 2016 Aug; 58(8): 785–788. Published online 2016 Jun 21. doi: 10.1111/ped.12988
PMCID:
PMC4996748
ArticlePDF–492K
15.
ALG1-CDG: Clinical and molecular characterization of 39 unreported patients
Bobby G. Ng, Sergey A. Shiryaev, Daisy Rymen, Erik A. Eklund, Kimiyo Raymond, Martin Kircher, Jose E. Abdenur, Fusun Alehan, Alina T. Midro, Michael J. Bamshad, Rita Barone, Gerard T. Berry, Jane E. Brumbaugh, Kati J. Buckingham, Katie Clarkson, F. Sessions Cole, Shawn O'Connor, Gregory M. Cooper, Rudy Van Coster, Laurie A. Demmer, Luisa Diogo, Alexander J. Fay, Can Ficicioglu, Agata Fiumara, William A. Gahl, Rebecca Ganetzky, Himanshu Goel, Lyndsay A. Harshman, Miao He, Jaak Jaeken, Philip M. James, Daniel Katz, Liesbeth Keldermans, Maria Kibaek, Andrew J. Kornberg, Katherine Lachlan, Christina Lam, Joy Yaplito-Lee, Deborah A. Nickerson, Heidi L. Peters, Valerie Race, Luc Régal, Jeffrey S. Rush, S. Lane Rutledge, Jay Shendure, Erika Souche, Susan E. Sparks, Pamela Trapane, Amarilis Sanchez-Valle, Eric Vilain, Arve Vøllo, Charles J. Waechter, Raymond Y. Wang, Lynne A. Wolfe, Derek A. Wong, Tim Wood, Amy C. Yang, University of Washington Center for Mendelian Genomics, Gert Matthijs, Hudson H. Freeze
Hum Mutat. Author manuscript; available in PMC 2016 Jul 1.
Published in final edited form as: Hum Mutat. 2016 Jul; 37(7): 653–660. Published online 2016 Mar 21. doi: 10.1002/humu.22983
PMCID:
PMC4907823
ArticlePDF–885K
16.
Structural Studies of Lipopolysaccharide-defective Mutants from Brucella melitensis Identify a Core Oligosaccharide Critical in Virulence
Carolina Fontana, Raquel Conde-Álvarez, Jonas Ståhle, Otto Holst, Maite Iriarte, Yun Zhao, Vilma Arce-Gorvel, Seán Hanniffy, Jean-Pierre Gorvel, Ignacio Moriyón, Göran Widmalm
J Biol Chem. 2016 Apr 1; 291(14): 7727–7741. Published online 2016 Feb 11. doi: 10.1074/jbc.M115.701540
PMCID:
PMC4817197
ArticlePDF–889K
17.
PMT1 deficiency enhances basal UPR activity and extends replicative lifespan of Saccharomyces cerevisiae
Hong-Jing Cui, Xin-Guang Liu, Mark McCormick, Brian M. Wasko, Wei Zhao, Xin He, Yuan Yuan, Bing-Xiong Fang, Xue-Rong Sun, Brian K. Kennedy, Yousin Suh, Zhong-Jun Zhou, Matt Kaeberlein, Wen-Li Feng
Age (Dordr) 2015 Jun; 37(3): 46. Published online 2015 May 4. doi: 10.1007/s11357-015-9788-7
PMCID:
PMC4417673
ArticlePDF–906K
18.
Identification of a Sphingolipid α-Glucuronosyltransferase That Is Essential for Pollen Function in Arabidopsis
Emilie A. Rennie, Berit Ebert, Godfrey P. Miles, Rebecca E. Cahoon, Katy M. Christiansen, Solomon Stonebloom, Hoda Khatab, David Twell, Christopher J. Petzold, Paul D. Adams, Paul Dupree, Joshua L. Heazlewood, Edgar B. Cahoon, Henrik Vibe Scheller
Plant Cell. 2014 Aug; 26(8): 3314–3325. Published online 2014 Aug 8. doi: 10.1105/tpc.114.129171
PMCID:
PMC4371831
ArticlePDF–688K
19.
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy
Amy C. Yang, Bobby G. Ng, Steven A. Moore, Jeffrey Rush, Charles J. Waechter, Kimiyo M. Raymond, Tobias Willer, Kevin P. Campbell, Hudson H. Freeze, Lakshmi Mehta
Mol Genet Metab. Author manuscript; available in PMC 2014 Nov 1.
Published in final edited form as: Mol Genet Metab. 2013 Nov; 110(3): 345–351. Published online 2013 Jun 28. doi: 10.1016/j.ymgme.2013.06.016
PMCID:
PMC3800268
ArticlePDF–919K
20.
Mnt1p and Mnt2p of Candida albicans Are Partially Redundant α-1,2-Mannosyltransferases That Participate in O-Linked Mannosylation and Are Required for Adhesion and Virulence
Carol A. Munro, Steven Bates, Ed T. Buurman, H. Bleddyn Hughes, Donna M. MacCallum, Gwyneth Bertram, Abdel Atrih, Michael A. J. Ferguson, Judith M. Bain, Alexandra Brand, Suzanne Hamilton, Caroline Westwater, Lynn M. Thomson, Alistair J. P. Brown, Frank C. Odds, Neil A. R. Gow
J Biol Chem. Author manuscript; available in PMC 2013 Aug 21.
Published in final edited form as: J Biol Chem. 2005 Jan 14; 280(2): 1051–1060. Published online 2004 Nov 1. doi: 10.1074/jbc.M411413200
PMCID:
PMC3749086
ArticlePDF–1.5M

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