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Select item 99572811.

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

Abstract Article PDF–1.5M

Select item 102984232.

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

Abstract Article PDF–401K

Select item 50847653.

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

Abstract Article PDF–1.0M

Select item 72546804.

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

Abstract Article PDF–770K

Select item 40232165.

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

Abstract Article PDF–1.5M

Select item 39286566.

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

Abstract Article PDF–1.9M

Select item 37341307.

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

Abstract Article PDF–866K

Select item 60474598.

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

Abstract Article PDF–287K

Select item 106231029.

PIGO‐CDG: A case study with a new genotype, expansion of the phenotype, literature review, and nosological considerations

Rodrigo Tzovenos Starosta, Nino Kerashvili, Cassandra Pruitt, Matthew J. Schultz, Suzanne W. Boyer, Eva Morava, Maria Laura Duque Lasio, Dorothy K. Grange

JIMD Rep. 2023 Nov; 64(6): 424–433. Published online 2023 Sep 20. doi: 10.1002/jmd2.12396

PMCID:: PMC10623102

Abstract Article PDF–1.9M

Select item 983002310.

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

Abstract Article PDF–1.2M

Select item 303048911.

The Putative Lipid Transporter, Arv1, Is Required for Activating Pheromone-Induced MAP Kinase Signaling in Saccharomyces cerevisiae

Michelle L. Villasmil, Alison Ansbach, Joseph T. Nickels, Jr.

Genetics. 2011 Feb; 187(2): 455–465. doi: 10.1534/genetics.110.120725

PMCID:: PMC3030489

Abstract Article PDF–1.0M

Select item 300354712.

Expression of functional bacterial undecaprenyl pyrophosphate synthase in the yeast rer2Δ mutant and CHO cells

Jeffrey S Rush, Sergey Matveev, Ziqiang Guan, Christian R H Raetz, C J Waechter

Glycobiology. 2010 Dec; 20(12): 1585–1593. Published online 2010 Aug 4. doi: 10.1093/glycob/cwq107

PMCID:: PMC3003547

Abstract Article PDF–256K

Select item 303796713.

Membrane-Type 4 Matrix Metalloproteinase (MT4-MMP) Modulates Water Homeostasis in Mice

Manakan B. Srichai, Heloisa Colleta, Leslie Gewin, Linsey Matrisian, Ty W. Abel, Naohiko Koshikawa, Motoharu Seiki, Ambra Pozzi, Raymond C. Harris, Roy Zent

PLoS One. 2011; 6(2): e17099. Published online 2011 Feb 11. doi: 10.1371/journal.pone.0017099

PMCID:: PMC3037967

Abstract Article PDF–2.0M

Select item 269497714.

Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia

Ana Belinda Campos-Xavier, Danielle Martinet, John Bateman, Dan Belluoccio, Lynn Rowley, Tiong Yang Tan, Alica Baxová, Karl-Henrik Gustavson, Zvi U. Borochowitz, A. Micheil Innes, Sheila Unger, Jacques S. Beckmann, Lauréane Mittaz, Diana Ballhausen, Andrea Superti-Furga, Ravi Savarirayan, Luisa Bonafé

Am J Hum Genet. 2009 Jun 12; 84(6): 760–770. doi: 10.1016/j.ajhg.2009.05.002

PMCID:: PMC2694977

Abstract Article PDF–1.1M

Select item 305784515.

Improvement of Dolichol-linked Oligosaccharide Biosynthesis by the Squalene Synthase Inhibitor Zaragozic Acid

Micha A. Haeuptle, Michael Welti, Heinz Troxler, Andreas J. Hülsmeier, Timo Imbach, Thierry Hennet

J Biol Chem. 2011 Feb 25; 286(8): 6085–6091. Published online 2010 Dec 23. doi: 10.1074/jbc.M110.165795

PMCID:: PMC3057845

Abstract Article PDF–2.1M

Select item 310335216.

Assessing the Role of the Glycosylphosphatidylinositol-anchored High Density Lipoprotein-binding Protein 1 (GPIHBP1) Three-finger Domain in Binding Lipoprotein Lipase

Anne P. Beigneux, Brandon S. J. Davies, Shelly Tat, Jenny Chen, Peter Gin, Constance V. Voss, Michael M. Weinstein, André Bensadoun, Clive R. Pullinger, Loren G. Fong, Stephen G. Young

J Biol Chem. 2011 Jun 3; 286(22): 19735–19743. Published online 2011 Apr 7. doi: 10.1074/jbc.M111.242024

PMCID:: PMC3103352

Abstract Article PDF–3.4M

Select item 315618117.

Structure of the protein core of the glypican Dally-like and localization of a region important for hedgehog signaling

Min-Sung Kim, Adam M. Saunders, Brent Y. Hamaoka, Philip A. Beachy, Daniel J. Leahy

Proc Natl Acad Sci U S A. 2011 Aug 9; 108(32): 13112-13117. Published online 2011 Jul 26. doi: 10.1073/pnas.1109877108

PMCID:: PMC3156181

Abstract Article PDF–906K

Select item 327856618.

Arv1 lipid transporter function is conserved between pathogenic and nonpathogenic fungi

Christina Gallo-Ebert, Paula C. McCourt, Melissa Donigan, Michelle L. Villasmil, WeiWei Chen, Devanshi Pandya, Judith Franco, Desiree Romano, Sean Chadwick, Scott Gygax, Joseph T. Nickels, Jr

Fungal Genet Biol. Author manuscript; available in PMC 2013 Feb 1.

Published in final edited form as: Fungal Genet Biol. 2012 Feb; 49(2): 101–113. Published online 2011 Nov 27. doi: 10.1016/j.fgb.2011.11.006

PMCID:: PMC3278566

Abstract Article PDF–2.1M

Select item 330731419.

Mechanism for Release of Alkaline Phosphatase Caused by Glycosylphosphatidylinositol Deficiency in Patients with Hyperphosphatasia Mental Retardation Syndrome

Yoshiko Murakami, Noriyuki Kanzawa, Kazunobu Saito, Peter M. Krawitz, Stefan Mundlos, Peter N. Robinson, Anastasios Karadimitris, Yusuke Maeda, Taroh Kinoshita

J Biol Chem. 2012 Feb 24; 287(9): 6318–6325. Published online 2012 Jan 6. doi: 10.1074/jbc.M111.331090

PMCID:: PMC3307314

Abstract Article PDF–2.2M

Select item 330764220.

Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia punctata

Noriyuki Kanzawa, Nobuyuki Shimozawa, Ronald J. A. Wanders, Kazutaka Ikeda, Yoshiko Murakami, Hans R. Waterham, Satoru Mukai, Morihisa Fujita, Yusuke Maeda, Ryo Taguchi, Yukio Fujiki, Taroh Kinoshita

J Lipid Res. 2012 Apr; 53(4): 653–663. doi: 10.1194/jlr.M021204

PMCID:: PMC3307642

Abstract Article PDF–1.5M

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birc6 baculoviral IAP repeat containing 6 [Danio rerio]
birc6 baculoviral IAP repeat containing 6 [Danio rerio]
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