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Items: 1 to 20 of 55

1.
SRD5A3 is required for the conversion of polyprenol to dolichol, essential for N-linked protein glycosylation
Vincent Cantagrel, Dirk J Lefeber, Bobby G. Ng, Ziqiang Guan, Jennifer L. Silhavy, Stephanie L. Bielas, Ludwig Lehle, Hans Hombauer, Maciej Adamowicz, Ewa Swiezewska, Arjan P. De Brouwer, Peter Blümel, Jolanta Sykut-Cegielska, Scott Houliston, Dominika Swistun, Bassam R. Ali, Dusica Babovic-Vuksanovic, Hans van Bokhoven, Ron A Wevers, Christian R.H. Raetz, Hudson H. Freeze, Éva Morava, Lihadh Al-Gazali, Joseph G. Gleeson
Cell. Author manuscript; available in PMC 2011 Jan 1.
Published in final edited form as: Cell. 2010 Jul 23; 142(2): 203–217. Published online 2010 Jul 15. doi: 10.1016/j.cell.2010.06.001
PMCID:
PMC2940322
AbstractArticlePDF–4.6M
2.
Clinical and Biochemical Footprints of Congenital Disorders of Glycosylation: Proposed Nosology
Bobby G. Ng, Hudson H. Freeze, Nastassja Himmelreich, Nenad Blau, Carlos R. Ferreira
Mol Genet Metab. Author manuscript; available in PMC 2024 Jul 16.
Published in final edited form as: Mol Genet Metab. 2024 May; 142(1): 108476. Published online 2024 Apr 10. doi: 10.1016/j.ymgme.2024.108476
PMCID:
PMC11251693
AbstractArticlePDF–1.4M
3.
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
AbstractArticlePDF–2.0M
4.
Phenotype-based clustering of glycosylation-related genes by RNAi-mediated gene silencing
Miki Yamamoto-Hino, Hideki Yoshida, Tomomi Ichimiya, Sho Sakamura, Megumi Maeda, Yoshinobu Kimura, Norihiko Sasaki, Kiyoko F Aoki-Kinoshita, Akiko Kinoshita-Toyoda, Hidenao Toyoda, Ryu Ueda, Shoko Nishihara, Satoshi Goto
Genes Cells. 2015 Jun; 20(6): 521–542. Published online 2015 May 4. doi: 10.1111/gtc.12246
PMCID:
PMC4682476
AbstractArticlePDF–1.1M
5.
N-linked glycosylation of the bone morphogenetic protein receptor type 2 (BMPR2) enhances ligand binding
Jonathan W. Lowery, Jose M. Amich, Alex Andonian, Vicki Rosen
Cell Mol Life Sci. 2014 Aug; 71(16): 3165–3172. Published online 2013 Dec 15. doi: 10.1007/s00018-013-1541-8
PMCID:
PMC4058410
AbstractArticlePDF–2.0M
6.
N-Glycosylation Determines the Abundance of the Transient Receptor Potential Channel TRPP2
Alexis Hofherr, Claudius Wagner, Sorin Fedeles, Stefan Somlo, Michael Köttgen
J Biol Chem. 2014 May 23; 289(21): 14854–14867. Published online 2014 Apr 9. doi: 10.1074/jbc.M114.562264
PMCID:
PMC4031537
AbstractArticlePDF–2.1M
7.
Autosomal recessive PGM3 mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
Yu Zhang, Xiaomin Yu, Mie Ichikawa, Jonathan J. Lyons, Shrimati Datta, Ian T. Lamborn, Huie Jing, Emily S. Kim, Matthew Biancalana, Lynne A. Wolfe, Thomas DiMaggio, Helen F. Matthews, Sarah M. Kranick, Kelly D. Stone, Steven M. Holland, Daniel S. Reich, Jason D. Hughes, Huseyin Mehmet, Joshua McElwee, Alexandra F. Freeman, Hudson H. Freeze, Helen C. Su, Joshua D. Milner
J Allergy Clin Immunol. Author manuscript; available in PMC 2015 May 1.
Published in final edited form as: J Allergy Clin Immunol. 2014 May; 133(5): 1400–1409.e5. Published online 2014 Feb 28. doi: 10.1016/j.jaci.2014.02.013
PMCID:
PMC4016982
AbstractArticlePDF–1.7M
8.
Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA
Navdeep S. Sidhu, Kathrin Schreiber, Kevin Pröpper, Stefan Becker, Isabel Usón, George M. Sheldrick, Jutta Gärtner, Ralph Krätzner, Robert Steinfeld
Acta Crystallogr D Biol Crystallogr. 2014 May 1; 70(Pt 5): 1321–1335. Published online 2014 Apr 30. doi: 10.1107/S1399004714002739
PMCID:
PMC4014121
AbstractArticlePDF–1.7M
9.
A mutation in a ganglioside biosynthetic enzyme, ST3GAL5, results in salt & pepper syndrome, a neurocutaneous disorder with altered glycolipid and glycoprotein glycosylation
Luigi Boccuto, Kazuhiro Aoki, Heather Flanagan-Steet, Chin-Fu Chen, Xiang Fan, Frank Bartel, Marharyta Petukh, Ayla Pittman, Robert Saul, Alka Chaubey, Emil Alexov, Michael Tiemeyer, Richard Steet, Charles E. Schwartz
Hum Mol Genet. 2014 Jan 15; 23(2): 418–433. Published online 2013 Sep 10. doi: 10.1093/hmg/ddt434
PMCID:
PMC3869362
AbstractArticlePDF–1.4M
10.
N- and O-linked glycosylation of total plasma glycoproteins in galactosemia
Ying Liu, Baoyun Xia, Tyler J. Gleason, Uriel Castañeda, Miao He, Gerard T. Berry, Judith L. Fridovich-Keil
Mol Genet Metab. Author manuscript; available in PMC 2013 Aug 1.
Published in final edited form as: Mol Genet Metab. 2012 Aug; 106(4): 442–454. Published online 2012 Jun 12. doi: 10.1016/j.ymgme.2012.05.025
PMCID:
PMC3426456
AbstractArticlePDF–742K
11.
Partial Enzymatic Deglycosylation Preserves the Structure of Cleaved Recombinant HIV-1 Envelope Glycoprotein Trimers
Rafael S. Depetris, Jean-Philippe Julien, Reza Khayat, Jeong Hyun Lee, Robert Pejchal, Umesh Katpally, Nicolette Cocco, Milind Kachare, Evan Massi, Kathryn B. David, Albert Cupo, Andre J. Marozsan, William C. Olson, Andrew B. Ward, Ian A. Wilson, Rogier W. Sanders, John P. Moore
J Biol Chem. 2012 Jul 13; 287(29): 24239–24254. Published online 2012 May 29. doi: 10.1074/jbc.M112.371898
PMCID:
PMC3397850
AbstractArticlePDF–3.2M
12.
Trafficking-deficient hERG K+ channels linked to long QT syndrome are regulated by a microtubule-dependent quality control compartment in the ER
Jennifer L. Smith, Christie M. McBride, Parvathi S. Nataraj, Daniel C. Bartos, Craig T. January, Brian P. Delisle
Am J Physiol Cell Physiol. 2011 Jul; 301(1): C75–C85. Published online 2011 Apr 13. doi: 10.1152/ajpcell.00494.2010
PMCID:
PMC3129823
AbstractArticle
13.
Effect of PKD1 gene missense mutations on polycystin-1 membrane topogenesis
Nancy M. Nims, Dianne Vassmer, Robin L. Maser
Biochemistry. Author manuscript; available in PMC 2012 Jun 29.
Published in final edited form as: Biochemistry. 2011 Jan 25; 50(3): 349–355. Published online 2010 Dec 29. doi: 10.1021/bi101326w
PMCID:
PMC3079771
AbstractArticlePDF–574K
14.
Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3
Kimia Kahrizi, Cougar Hao Hu, Masoud Garshasbi, Seyedeh Sedigheh Abedini, Shirin Ghadami, Roxana Kariminejad, Reinhard Ullmann, Wei Chen, H-Hilger Ropers, Andreas W Kuss, Hossein Najmabadi, Andreas Tzschach
Eur J Hum Genet. 2011 Jan; 19(1): 115–117. Published online 2010 Aug 11. doi: 10.1038/ejhg.2010.132
PMCID:
PMC3039499
AbstractArticlePDF–230K
15.
A human FSHB transgene encoding the double N-glycosylation mutant (Asn7Δ Asn24Δ) FSHβ subunit fails to rescue Fshb null mice
Huizhen Wang, Vladimir Butnev, George R. Bousfield, T. Rajendra Kumar
Mol Cell Endocrinol. Author manuscript; available in PMC 2017 May 5.
Published in final edited form as: Mol Cell Endocrinol. 2016 May 5; 426: 113–124. Published online 2016 Feb 19. doi: 10.1016/j.mce.2016.02.015
PMCID:
PMC5130991
AbstractArticlePDF–1.3M
16.
Abnormal Glycosylation of EAAT1 and EAAT2 in Prefrontal Cortex of Elderly Patients with Schizophrenia
Deborah Bauer, Vahram Haroutunian, James H. Meador-Woodruff, Robert E. McCullumsmith
Schizophr Res. Author manuscript; available in PMC 2011 Mar 1.
Published in final edited form as: Schizophr Res. 2010 Mar; 117(1): 92. Published online 2009 Aug 27. doi: 10.1016/j.schres.2009.07.025
PMCID:
PMC2822023
AbstractArticlePDF–766K
17.
Familial pulmonary alveolar proteinosis caused by mutations in CSF2RA
Takuji Suzuki, Takuro Sakagami, Bruce K. Rubin, Lawrence M. Nogee, Robert E. Wood, Sarah L. Zimmerman, Teresa Smolarek, Megan K. Dishop, Susan E. Wert, Jeffrey A. Whitsett, Gregory Grabowski, Brenna C. Carey, Carrie Stevens, Johannes C.M. van der Loo, Bruce C. Trapnell
J Exp Med. 2008 Nov 24; 205(12): 2703–2710. doi: 10.1084/jem.20080990
PMCID:
PMC2585845
AbstractArticlePDF–2.7M
18.
Three types of low density lipoprotein receptor-deficient mutant have pleiotropic defects in the synthesis of N-linked, O-linked, and lipid- linked carbohydrate chains
J Cell Biol. 1986 May 1; 102(5): 1576–1585. doi: 10.1083/jcb.102.5.1576
PMCID:
PMC2114220
SummaryPDF–2.0M
19.
Agm1/Pgm3-Mediated Sugar Nucleotide Synthesis Is Essential for Hematopoiesis and Development
Kylie T. Greig, Jennifer Antonchuk, Donald Metcalf, Phillip O. Morgan, Danielle L. Krebs, Jian-Guo Zhang, Douglas F. Hacking, Lars Bode, Lorraine Robb, Christian Kranz, Carolyn de Graaf, Melanie Bahlo, Nicos A. Nicola, Stephen L. Nutt, Hudson H. Freeze, Warren S. Alexander, Douglas J. Hilton, Benjamin T. Kile
Mol Cell Biol. 2007 Aug; 27(16): 5849–5859. Published online 2007 Jun 4. doi: 10.1128/MCB.00802-07
PMCID:
PMC1952135
AbstractArticlePDF–990K
20.
Identification of a missense mutation in one allele of a patient with Pompe disease, and use of endonuclease digestion of PCR-amplified RNA to demonstrate lack of mRNA expression from the second allele.
N Zhong, F Martiniuk, S Tzall, R Hirschhorn
Am J Hum Genet. 1991 Sep; 49(3): 635–645.
PMCID:
PMC1683123
SummaryPage BrowsePDF–1.5M

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