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Establishment of mouse model of inherited PIGO deficiency and therapeutic potential of AAV-based gene therapy.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-30847-x
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- Article
Interim analysis of post-marketing surveillance of eculizumab for paroxysmal nocturnal hemoglobinuria in Japan.
- Published in:
- 2016
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- Publication type:
- journal article
Long-term efficacy and safety of eculizumab in Japanese patients with PNH: AEGIS trial.
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- International Journal of Hematology, 2013, v. 98, n. 4, p. 406, doi. 10.1007/s12185-013-1404-y
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- Article
Safety and efficacy of the terminal complement inhibitor eculizumab in Japanese patients with paroxysmal nocturnal hemoglobinuria: the AEGIS clinical trial.
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- 2011
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- Publication type:
- journal article
Molecular genetics of paroxysmal nocturnal hemoglobinuria.
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- 2003
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- Publication type:
- journal article
Relationship between aplastic anemia and paroxysmal nocturnal hemoglobinuria.
- Published in:
- 2002
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- Publication type:
- journal article
Requirement of N-glycan on GPI-anchored proteins for efficient binding of aerolysin but not Clostridium septicum a-toxin.
- Published in:
- EMBO Journal, 2002, v. 21, n. 19, p. 5047, doi. 10.1093/emboj/cdf508
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- Article
PIG-S and PIG-T, essential for GPI anchor attachment to proteins, form a complex with GAA1 and GPI8.
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- EMBO Journal, 2001, v. 20, n. 15, p. 4088, doi. 10.1093/emboj/20.15.4088
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- Article
PIG-M transfers the first mannose to glycosylphosphatidylinositol on the lumenal side of the ER.
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- EMBO Journal, 2001, v. 20, n. 1/2, p. 250, doi. 10.1093/emboj/20.1.250
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- Article
Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-P and is regulated by DPM2.
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- EMBO Journal, 2000, v. 19, n. 16, p. 4402, doi. 10.1093/emboj/19.16.4402
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- Publication type:
- Article
Human dolichol-phosphate-mannose synthase consists of three subunits, DPM1, DPM2 and DPM3.
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- EMBO Journal, 2000, v. 19, n. 11, p. 2475, doi. 10.1093/emboj/19.11.2475
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- Publication type:
- Article
DPM2 regulates biosynthesis of dolichol phosphate-mannose in mammalian cells: correct subcellular localization and stabilization of DPM1, and binding of dolichol phosphate.
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- EMBO Journal, 1998, v. 17, n. 17, p. 4920, doi. 10.1093/emboj/17.17.4920
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- Publication type:
- Article
The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.
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- EMBO Journal, 1998, v. 17, n. 4, p. 877, doi. 10.1093/emboj/17.4.877
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- Publication type:
- Article
PIGO mutations in intractable epilepsy and severe developmental delay with mild elevation of alkaline phosphatase levels.
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- Epilepsia (Series 4), 2014, v. 55, n. 2, p. e13, doi. 10.1111/epi.12508
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- Publication type:
- Article
Hrd1-dependent Degradation of the Unassembled PIGK Subunit of the GPI Transamidase Complex.
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- Cell Structure & Function, 2021, v. 46, n. 2, p. 65, doi. 10.1247/csf.21019
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- Publication type:
- Article
New insights into the functions of PIGF, a protein involved in the ethanolamine phosphate transfer steps of glycosylphosphatidylinositol biosynthesis.
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- Biochemical Journal, 2014, v. 463, n. 2, p. 249, doi. 10.1042/BJ20140541
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- Publication type:
- Article
A knockout cell library of GPI biosynthetic genes for functional studies of GPI-anchored proteins.
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- Communications Biology, 2021, v. 4, n. 1, p. 1, doi. 10.1038/s42003-021-02337-1
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- Publication type:
- Article
C18orf32 loss-of-function is associated with a neurodevelopmental disorder with hypotonia and contractures.
- Published in:
- Human Genetics, 2022, v. 141, n. 8, p. 1423, doi. 10.1007/s00439-022-02433-0
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- Publication type:
- Article
PIGF deficiency causes a phenotype overlapping with DOORS syndrome.
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- Human Genetics, 2021, v. 140, n. 6, p. 879, doi. 10.1007/s00439-020-02251-2
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- Article
Lipid moiety of glycosylphosphatidylinositol‐anchored proteins contributes to the determination of their final destination in yeast.
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- Genes to Cells, 2018, v. 23, n. 10, p. 880, doi. 10.1111/gtc.12636
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- Article
Lipoarabinomannan binding to lactosylceramide in lipid rafts is essential for the phagocytosis of mycobacteria by human neutrophils.
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- Science Signaling, 2016, v. 9, n. 449, p. 1, doi. 10.1126/scisignal.aaf1585
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- Article
PIGO variants in a boy with features of Mabry syndrome who also exhibits Fryns syndrome with peripheral neuropathy.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 3, p. 845, doi. 10.1002/ajmg.a.62005
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- Article
A Novel Mutation in PIGW Causes Glycosylphosphatidylinositol Deficiency without Hyperphosphatasia.
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- American Journal of Medical Genetics. Part A, 2016, v. 170, n. 12, p. 3319, doi. 10.1002/ajmg.a.37950
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- Article
A Novel PIGN Mutation and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Deficiency.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 1, p. 183, doi. 10.1002/ajmg.a.37397
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- Publication type:
- Article
Mutations in PIGL in a patient with Mabry syndrome.
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- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 4, p. 777, doi. 10.1002/ajmg.a.36987
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- Publication type:
- Article
Hypomorphic promoter mutation in PIGM causes inherited glycosylphosphatidylinositol deficiency.
- Published in:
- Nature Medicine, 2006, v. 12, n. 7, p. 846, doi. 10.1038/nm1410
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- Publication type:
- Article
Angiotensin-converting enzyme is a GPI-anchored protein releasing factor crucial for fertilization.
- Published in:
- Nature Medicine, 2005, v. 11, n. 2, p. 160, doi. 10.1038/nm1179
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- Publication type:
- Article
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.
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- Nature Genetics, 2010, v. 42, n. 10, p. 827, doi. 10.1038/ng.653
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- Publication type:
- Article
Region-specific saturation germline mutagenesis in mice using the Sleeping Beauty transposon system.
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- Nature Methods, 2005, v. 2, n. 10, p. 763, doi. 10.1038/nmeth795
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- Publication type:
- Article
Genome-Wide Screening of Genes Required for Glycosylphosphatidylinositol Biosynthesis.
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- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138553
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- Article
Efficacy of Recombinant Bacille Calmette-Guérin Vaccine Secreting Interleukin-15/Antigen 85B Fusion Protein in Providing Protection against Mycobacterium tuberculosis.
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- Journal of Infectious Diseases, 2008, v. 197, n. 9, p. 1263, doi. 10.1086/586902
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- Publication type:
- Article
Ethanolamine‐phosphate on the second mannose is a preferential bridge for some GPI‐anchored proteins.
- Published in:
- EMBO Reports, 2022, v. 23, n. 7, p. 1, doi. 10.15252/embr.202154352
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- Publication type:
- Article
Identification of a Golgi GPI-N-acetylgalactosamine transferase with tandem transmembrane regions in the catalytic domain.
- Published in:
- Nature Communications, 2018, v. 9, n. 1, p. 1, doi. 10.1038/s41467-017-02799-0
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- Publication type:
- Article
Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1689, doi. 10.1038/ejhg.2015.42
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- Article
Human SND2 mediates ER targeting of GPI‐anchored proteins with low hydrophobic GPI attachment signals.
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- FEBS Letters, 2021, v. 595, n. 11, p. 1542, doi. 10.1002/1873-3468.14083
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- Article
GPHR is a novel anion channel critical for acidification and functions of the Golgi apparatus.
- Published in:
- Nature Cell Biology, 2008, v. 10, n. 10, p. 1135, doi. 10.1038/ncb1773
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- Publication type:
- Article
Paroxysmal nocturnal hemoglobinuria with copy number-neutral 6p LOH in GPI (+) but not in GPI (−) granulocytes.
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- European Journal of Haematology, 2014, v. 92, n. 5, p. 450, doi. 10.1111/ejh.12253
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- Publication type:
- Article
A cohort study of the nature of paroxysmal nocturnal hemoglobinuria clones and PIG-A mutations in patients with aplastic anemia.
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- European Journal of Haematology, 2006, v. 76, n. 6, p. 502, doi. 10.1111/j.0902-4441.2005.t01-1-EJH2467.x
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- Publication type:
- Article
Glycolipids with nonreducing end α-mannosyl residues that have the potential to activate invariant Vα19 NKT cells.
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- FEBS Journal, 2007, v. 274, n. 11, p. 2921, doi. 10.1111/j.1742-4658.2007.05826.x
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- Publication type:
- Article
Transgenic pigs expressing human decay-accelerating factor regulated by porcine MCP gene promoter.
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- Molecular Reproduction & Development, 2002, v. 61, n. 3, p. 302, doi. 10.1002/mrd.10043
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- Publication type:
- Article
Analysis of PIG-A gene in a patient who developed reciprocal translocation of chromosome 12 and paroxysmal nocturnal hemoglobinuria during follow-up of aplastic anemia.
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- American Journal of Hematology, 1996, v. 51, n. 3, p. 229, doi. 10.1002/(SICI)1096-8652(199603)51:3<229::AID-AJH8>3.0.CO;2-Z
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- Publication type:
- Article
Trypanosome Glycosylphosphatidylinositol Biosynthesis.
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- Korean Journal of Parasitology, 2009, v. 47, n. 3, p. 197, doi. 10.3347/kjp.2009.47.3.197
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- Publication type:
- Article
Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.
- Published in:
- Frontiers in Neurology, 2023, v. 14, p. 1, doi. 10.3389/fneur.2023.1092887
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- Publication type:
- Article
A lipid scramblase TMEM41B is involved in the processing and transport of GPI-anchored proteins.
- Published in:
- Journal of Biochemistry, 2023, v. 174, n. 2, p. 109, doi. 10.1093/jb/mvad041
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- Publication type:
- Article
Differential use of p24 family members as cargo receptors for the transport of glycosylphosphatidylinositol-anchored proteins and Wnt1.
- Published in:
- Journal of Biochemistry, 2022, v. 171, n. 1, p. 75, doi. 10.1093/jb/mvab108
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- Publication type:
- Article
Glycosylphosphatidylinositol mannosyltransferase II is the rate-limiting enzyme in glycosylphosphatidylinositol biosynthesis under limited dolichol-phosphate mannose availability.
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- Journal of Biochemistry, 2013, v. 154, n. 3, p. 257, doi. 10.1093/jb/mvt045
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- Publication type:
- Article
Testicular Angiotensin-Converting Enzyme with Different Glycan Modification: Characterization on Glycosylphosphatidylinositol-Anchored Protein Releasing and Dipeptidase Activities.
- Published in:
- Journal of Biochemistry, 2009, v. 145, n. 1, p. 115, doi. 10.1093/jb/mvn148
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- Publication type:
- Article
Biosynthesis, Remodelling and Functions of Mammalian GPI-anchored Proteins: Recent Progress.
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- Journal of Biochemistry, 2008, v. 144, n. 3, p. 287, doi. 10.1093/jb/mvn090
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- Publication type:
- Article
Both Mammalian PIG-M and PIG-X are Required for Growth of GPI14-Disrupted Yeast.
- Published in:
- Journal of Biochemistry, 2007, v. 142, n. 1, p. 123, doi. 10.1093/jb/mvm113
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- Publication type:
- Article
GPHR-Dependent Functions of the Golgi Apparatus Are Essential for the Formation of Lamellar Granules and the Skin Barrier.
- Published in:
- Journal of Investigative Dermatology, 2012, v. 132, n. 8, p. 2019, doi. 10.1038/jid.2012.100
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- Article