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Brain & Development|July 22, 2017
Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutationsKosuke Kohashi, Akihiko Ishiyama, Shota Yuasa, et al.
European Journal of Human Genetics : EJHG|March 26, 2015
Cerebral visual impairment and intellectual disability caused by PGAP1 variantsDaniëlle G M Bosch, F Nienke Boonstra, Taroh Kinoshita, et al.
Internal Medicine (Tokyo, Japan)|April 3, 2018
A Rare Case of Ampullary Goblet Cell CarcinoidHitoshi Shibuya, Susumu Hijioka, Nobumasa Mizuno, et al.
American Journal of Human Genetics|July 30, 2019
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain AnomaliesAlexej Knaus, Fanny Kortüm, Tjitske Kleefstra, et al.
Mbio|June 23, 2025
Evolutionary dynamics of heparan sulfate utilization by SARS-CoV-2Shuhei Higuchi, Yafei Liu, Jun Shimizu, et al.
American Journal of Medical Genetics. Part A|August 13, 2025
Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case ReportMatheus Vernet Machado Bressan Wilke, Deepak Panwar, Johannes M Verheijen, et al.
The Journal of Cell Biology|November 25, 2016
A GPI processing phospholipase A2, PGAP6, modulates Nodal signaling in embryos by shedding CRIPTOGun-Hee Lee, Morihisa Fujita, Katsuyoshi Takaoka, et al.
Frontiers in Neurology|March 27, 2023
Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal regionIkhlas Ben Ayed, Olfa Jallouli, Yoshiko Murakami, et al.
Blood|June 5, 2013
A case of paroxysmal nocturnal hemoglobinuria caused by a germline mutation and a somatic mutation in PIGTPeter M Krawitz, Britta Höchsmann, Yoshiko Murakami, et al.
Journal of Medical Genetics|October 4, 2016
Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disabilitySimon Edvardson, Yoshiko Murakami, Thi Tuyet Mai Nguyen, et al.
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