| 1 | PGAP1
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| N-Glycan-dependent protein folding and endoplasmic reticulum retention regulate GPI-anchor processing.
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| Liu YS, Guo XY, Hirata T, Rong Y, Motooka D, Kitajima T, Murakami Y, Gao XD, Nakamura S, Kinoshita T, Fujita M.
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| J Cell Biol 217(2):585-599. doi: 10.1083/jcb.201706135. Epub 2017 Dec 18.
2018
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| 2 | MRT42, PGAP1
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| Compound heterozygous variants in PGAP1 causing severe psychomotor retardation, brain atrophy, recurrent apneas and delayed myelination: a case report and literature review.
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| Kettwig M, Elpeleg O, Wegener E, Dreha-Kulaczewski S, Henneke M, Gärtner J, Huppke P.
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| BMC Neurol 16:74. doi: 10.1186/s12883-016-0602-7. Review.
2016
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| 3 | MRT42, PGAP1
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| Loss of function of PGAP1 as a cause of severe encephalopathy identified by Whole Exome Sequencing: Lessons of the bioinformatics pipeline.
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| Granzow M, Paramasivam N, Hinderhofer K, Fischer C, Chotewutmontri S, Kaufmann L, Evers C, Kotzaeridou U, Rohrschneider K, Schlesner M, Sturm M, Pinkert S, Eils R, Bartram CR, Bauer P, Moog U.
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| Mol Cell Probes 29(5):323-9. doi: 10.1016/j.mcp.2015.05.012. Epub 2015 Jun 4.
2015
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| 4 | MRT42, PGAP1
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| Additional evidence that PGAP1 loss of function causes autosomal recessive global developmental delay and encephalopathy.
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| Williams C, Jiang YH, Shashi V, Crimian R, Schoch K, Harper A, McHale D, Goldstein D, Petrovski S.
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| Clin Genet 88(6):597-9. doi: 10.1111/cge.12581. Epub 2015 Mar 30. No abstract available.
2015
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| 5 | MRT42, PGAP1
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| Cerebral visual impairment and intellectual disability caused by PGAP1 variants.
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| Bosch DG, Boonstra FN, Kinoshita T, Jhangiani S, de Ligt J, Cremers FP, Lupski JR, Murakami Y, de Vries BB.
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| Eur J Hum Genet 23(12):1689-93. doi: 10.1038/ejhg.2015.42. Epub 2015 Mar 25.
2015
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| 6 | ARL6IP1, ARSI, ERLIN1, FLRT1, KIF1C, PGAP1, RAB3GAP2, SPAX2, SPG59, SPG60, SPG61, SPG62, SPG66, SPG67, SPG68, SPG69, SPG71, USP8, WDR48, ZFR
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| Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
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| Novarino G, Fenstermaker AG, Zaki MS, Hofree M, Silhavy JL, Heiberg AD, Abdellateef M, Rosti B, Scott E, Mansour L, Masri A, Kayserili H, Al-Aama JY, Abdel-Salam GMH, Karminejad A, Kara M, Kara B, Bozorgmehri B, Ben-Omran T, Mojahedi F, El Din Mahmoud IG, Bouslam N, Bouhouche A, Benomar A, Hanein S, Raymond L, Forlani S, Mascaro M, Selim L, Shehata N, Al-Allawi N, Bindu PS, Azam M, Gunel M, Caglayan A, Bilguvar K, Tolun A, Issa MY, Schroth J, Spencer EG, Rosti RO, Akizu N, Vaux KK, Johansen A, Koh AA, Megahed H, Durr A, Brice A, Stevanin G, Gabriel SB, Ideker T, Gleeson JG.
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| Science 343(6170):506-511. doi: 10.1126/science.1247363.
2014
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| 7 | PGAP1
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| Null mutation in PGAP1 impairing Gpi-anchor maturation in patients with intellectual disability and encephalopathy.
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| Murakami Y, Tawamie H, Maeda Y, Büttner C, Buchert R, Radwan F, Schaffer S, Sticht H, Aigner M, Reis A, Kinoshita T, Jamra RA.
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| PLoS Genet 10(5):e1004320. doi: 10.1371/journal.pgen.1004320. eCollection 2014 May.
2014
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| 8 | PGAP1, PGAP3
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| Fatty acid remodeling of GPI-anchored proteins is required for their raft association.
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| Maeda Y, Tashima Y, Houjou T, Fujita M, Yoko-o T, Jigami Y, Taguchi R, Kinoshita T.
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| Mol Biol Cell 18(4):1497-506. Epub 2007 Feb 21.
2007
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| 9 | PGAP1
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| Inositol deacylation of glycosylphosphatidylinositol-anchored proteins is mediated by mammalian PGAP1 and yeast Bst1p.
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| Tanaka S, Maeda Y, Tashima Y, Kinoshita T.
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| J Biol Chem 279(14):14256-63. Epub 2004 Jan 20.
2004
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