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Items: 1 to 20 of 75

1.
The Glycosylphosphatidylinositol biosynthesis pathway in human diseases
Tenghui Wu, Fei Yin, Shiqi Guang, Fang He, Li Yang, Jing Peng
Orphanet J Rare Dis. 2020; 15: 129. Published online 2020 May 28. doi: 10.1186/s13023-020-01401-z
PMCID:
PMC7254680
ArticlePubReaderPDF–770KCite
2.
Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome
Alexej Knaus, Tomonari Awaya, Ingo Helbig, Zaid Afawi, Manuela Pendziwiat, Jubran Abu‐Rachma, Miles D. Thompson, David E. Cole, Steve Skinner, Fran Annese, Natalie Canham, Michal R. Schweiger, Peter N. Robinson, Stefan Mundlos, Taroh Kinoshita, Arnold Munnich, Yoshiko Murakami, Denise Horn, Peter M. Krawitz
Hum Mutat. 2016 Aug; 37(8): 737–744. Published online 2016 May 19. doi: 10.1002/humu.23006
PMCID:
PMC5084765
ArticlePubReaderPDF–1.0MCite
3.
Delineation of PIGV mutation spectrum and associated phenotypes in hyperphosphatasia with mental retardation syndrome
Denise Horn, Dagmar Wieczorek, Kay Metcalfe, Ivo Barić, Lidija Paležac, Mario Ćuk, Danijela Petković Ramadža, Ulrike Krüger, Stephanie Demuth, Wolfram Heinritz, Tobias Linden, Jens Koenig, Peter N Robinson, Peter Krawitz
Eur J Hum Genet. 2014 Jun; 22(6): 762–767. Published online 2013 Oct 16. doi: 10.1038/ejhg.2013.241
PMCID:
PMC4023216
ArticlePubReaderPDF–1.5MCite
4.
Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation
Malcolm F. Howard, Yoshiko Murakami, Alistair T. Pagnamenta, Cornelia Daumer-Haas, Björn Fischer, Jochen Hecht, David A. Keays, Samantha J.L. Knight, Uwe Kölsch, Ulrike Krüger, Steffen Leiz, Yusuke Maeda, Daphne Mitchell, Stefan Mundlos, John A. Phillips, III, Peter N. Robinson, Usha Kini, Jenny C. Taylor, Denise Horn, Taroh Kinoshita, Peter M. Krawitz
Am J Hum Genet. 2014 Feb 6; 94(2): 278–287. doi: 10.1016/j.ajhg.2013.12.012
PMCID:
PMC3928656
ArticlePubReaderPDF–1.9MCite
5.
Filtering for Compound Heterozygous Sequence Variants in Non-Consanguineous Pedigrees
Tom Kamphans, Peggy Sabri, Na Zhu, Verena Heinrich, Stefan Mundlos, Peter N. Robinson, Dmitri Parkhomchuk, Peter M. Krawitz
PLoS One. 2013; 8(8): e70151. Published online 2013 Aug 5. doi: 10.1371/journal.pone.0070151
PMCID:
PMC3734130
ArticlePubReaderPDF–866KCite
6.
Characteristics of Neuroimaging and Behavioural Phenotype in Polish Patients with PIGV-CDG—An Observational Study and Literature Review
Michal Hutny, Patryk Lipinski, Aleksandra Jezela-Stanek
Genes (Basel) 2023 Jun; 14(6): 1208. Published online 2023 May 31. doi: 10.3390/genes14061208
PMCID:
PMC10298423
ArticlePubReaderPDF–401KCite
7.
Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3)
Miles D. Thompson, Xueying Li, Michele Spencer-Manzon, Danielle M. Andrade, Yoshiko Murakami, Taroh Kinoshita, Thomas O. Carpenter
Genes (Basel) 2023 Feb; 14(2): 359. Published online 2023 Jan 30. doi: 10.3390/genes14020359
PMCID:
PMC9957281
ArticlePubReaderPDF–1.5MCite
8.
Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid
Martina Messina, Emanuela Manea, Thomas Cullup, Karin Tuschl, Spyros Batzios
JIMD Rep. 2023 Jan; 64(1): 42–52. Published online 2022 Nov 22. doi: 10.1002/jmd2.12347
PMCID:
PMC9830023
ArticlePubReaderPDF–1.2MCite
9.
Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disorders
Ruqaiah Altassan, Stephanie Fox, Chantal Poulin, Daniela Buhas
Mol Genet Metab Rep. 2018 Jun; 15: 46–49. Published online 2018 Feb 6. doi: 10.1016/j.ymgmr.2018.01.007
PMCID:
PMC6047459
ArticlePubReaderPDF–287KCite
10.
Engineering yeast to induce the synthesis of GPI-APs with a permanent phosphoethanolamine on mannose 2 of the glycan moiety
Li Chen, David K. Banfield
STAR Protoc. 2022 Sep 16; 3(3): 101503. Published online 2022 Jun 24. doi: 10.1016/j.xpro.2022.101503
PMCID:
PMC9249841
ArticlePubReaderPDF–2.7MCite
11.
Repulsive guidance molecule acts in axon branching in Caenorhabditis elegans
Kaname Tsutsui, Hon-Song Kim, Chizu Yoshikata, Kenji Kimura, Yukihiko Kubota, Yukimasa Shibata, Chenxi Tian, Jun Liu, Kiyoji Nishiwaki
Sci Rep. 2021; 11: 22370. Published online 2021 Nov 16. doi: 10.1038/s41598-021-01853-8
PMCID:
PMC8595726
ArticlePubReaderPDF–3.4MCite
12.
A Trypanosoma brucei β3 glycosyltransferase superfamily gene encodes a β1-6 GlcNAc-transferase mediating N-glycan and GPI anchor modification
Samuel M. Duncan, Rupa Nagar, Manuela Damerow, Dmitry V. Yashunsky, Benedetta Buzzi, Andrei V. Nikolaev, Michael A.J. Ferguson
J Biol Chem. 2021 Oct; 297(4): 101153. Published online 2021 Sep 1. doi: 10.1016/j.jbc.2021.101153
PMCID:
PMC8477195
ArticlePubReaderPDF–2.4MCite
13.
Chitosan and Chitin Deacetylase Activity Are Necessary for Development and Virulence of Ustilago maydis
Yanina S. Rizzi, Petra Happel, Sandra Lenz, Mounashree J. Urs, Martin Bonin, Stefan Cord-Landwehr, Ratna Singh, Bruno M. Moerschbacher, Regine Kahmann
mBio. 2021 Mar-Apr; 12(2): e03419-20. Published online 2021 Mar 2. doi: 10.1128/mBio.03419-20
PMCID:
PMC8092297
ArticlePubReaderPDF–5.1MCite
14.
Cdc1p is a Golgi-localized glycosylphosphatidylinositol-anchored protein remodelase
Gege Yang, David K. Banfield
Mol Biol Cell. 2020 Dec 15; 31(26): 2883–2891. doi: 10.1091/mbc.E20-08-0539
PMCID:
PMC7927193
ArticlePubReaderPDF–3.0MCite
15.
Expanding the phenotype of PIGS‐associated early onset epileptic developmental encephalopathy
Stephanie Efthymiou, Marina Dutra‐Clarke, Reza Maroofian, Rauan Kaiyrzhanov, Marcello Scala, Javeria Reza Alvi, Tipu Sultan, Marilena Christoforou, Thi Tuyet Mai Nguyen, Kshitij Mankad, Barbara Vona, Aboulfazl Rad, Pasquale Striano, Vincenzo Salpietro, Maria J. Guillen Sacoto, Maha S. Zaki, Joseph G. Gleeson, Philippe M. Campeau, Bianca E. Russell, Henry Houlden
Epilepsia. 2021 Feb; 62(2): e35–e41. Published online 2021 Jan 7. doi: 10.1111/epi.16801
PMCID:
PMC7898547
ArticlePubReaderPDF–945KCite
16.
PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations
Camille Tremblay‐Laganière, Rauan Kaiyrzhanov, Reza Maroofian, Thi Tuyet Mai Nguyen, Kamran Salayev, Ilana T. Chilton, Wendy K. Chung, Jill A. Madden, Chanika Phornphutkul, Pankaj B. Agrawal, Henry Houlden, Philippe M. Campeau
Clin Genet. 2021 Feb; 99(2): 313–317. Published online 2020 Nov 27. doi: 10.1111/cge.13877
PMCID:
PMC7839508
ArticlePubReaderPDF–958KCite
17.
A CRISPR-Cas9–engineered mouse model for GPI-anchor deficiency mirrors human phenotypes and exhibits hippocampal synaptic dysfunctions
Miguel Rodríguez de los Santos, Marion Rivalan, Friederike S. David, Alexander Stumpf, Julika Pitsch, Despina Tsortouktzidis, Laura Moreno Velasquez, Anne Voigt, Karl Schilling, Daniele Mattei, Melissa Long, Guido Vogt, Alexej Knaus, Björn Fischer-Zirnsak, Lars Wittler, Bernd Timmermann, Peter N. Robinson, Denise Horn, Stefan Mundlos, Uwe Kornak, Albert J. Becker, Dietmar Schmitz, York Winter, Peter M. Krawitz
Proc Natl Acad Sci U S A. 2021 Jan 12; 118(2): e2014481118. Published online 2021 Jan 5. doi: 10.1073/pnas.2014481118
PMCID:
PMC7812744
ArticlePubReaderPDF–1.9MCite
18.
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature
Devon L. Johnstone, Thi Tuyet Mai Nguyen, Jessica Zambonin, Kristin D. Kernohan, Anik St‐Denis, Nissan V. Baratang, Taila Hartley, Michael T. Geraghty, Julie Richer, Jacek Majewski, Eric Bareke, Andrea Guerin, Manuela Pendziwiat, Loren D. M. Pena, Hilde M. H. Braakman, Karen W. Gripp, Andrew C. Edmondson, Miao He, Rebecca C. Spillmann, Erik A. Eklund, Allan Bayat, Hugh J. McMillan, Kym M. Boycott, Philippe M. Campeau
J Inherit Metab Dis. 2020 Nov; 43(6): 1321–1332. Published online 2020 Aug 3. doi: 10.1002/jimd.12278
Correction in:
J Inherit Metab Dis. 2023 Jan; 46(1): 156.
PMCID:
PMC7689772
ArticlePubReaderPDF–4.5MCite
19.
AtPIG-S, a predicted Glycosylphosphatidylinositol Transamidase subunit, is critical for pollen tube growth in Arabidopsis
Nicholas Desnoyer, Gregory Howard, Emma Jong, Ravishankar Palanivelu
BMC Plant Biol. 2020; 20: 380. Published online 2020 Aug 18. doi: 10.1186/s12870-020-02587-x
PMCID:
PMC7437025
ArticlePubReaderPDF–8.2MCite
20.
LLG2/3 Are Co-receptors in BUPS/ANX-RALF Signaling to Regulate Arabidopsis Pollen Tube Integrity
Zengxiang Ge, Yuling Zhao, Ming-Che Liu, Liang-Zi Zhou, Lele Wang, Sheng Zhong, Saiying Hou, Jiahao Jiang, Tianxu Liu, Qingpei Huang, Junyu Xiao, Hongya Gu, Hen-Ming Wu, Juan Dong, Thomas Dresselhaus, Alice Y. Cheung, Li-Jia Qu
Curr Biol. Author manuscript; available in PMC 2020 Apr 23.
Published in final edited form as: Curr Biol. 2019 Oct 7; 29(19): 3256–3265.e5. Published online 2019 Sep 26. doi: 10.1016/j.cub.2019.08.032
PMCID:
PMC7179479
ArticlePubReaderPDF–1.8MCite

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