| Functional Analysis of the GPI Transamidase Complex by Screening for Amino Acid Mutations in Each Subunit. | Functional Analysis of the GPI Transamidase Complex by Screening for Amino Acid Mutations in Each Subunit.
Liu SS, Jin F, Liu YS, Murakami Y, Sugita Y, Kato T, Gao XD, Kinoshita T, Hattori M, Fujita M., Free PMC Article | 11/22/2021 |
| Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis. | Loss of PIGK function causes severe infantile encephalopathy and extensive neuronal apoptosis.
Chen X, Yin W, Chen S, Zhang W, Li H, Kuang H, Zhou M, Teng Y, Zhang J, Shen G, Liang D, Li Z, Hu B, Wu L. | 05/1/2021 |
| The overexpression of wild-type (WT) PIGK in fibroblasts rescued the levels of cell surface GPI-APs. | Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy.
Nguyen TTM, Murakami Y, Mobilio S, Niceta M, Zampino G, Philippe C, Moutton S, Zaki MS, James KN, Musaev D, Mu W, Baranano K, Nance JR, Rosenfeld JA, Braverman N, Ciolfi A, Millan F, Person RE, Bruel AL, Thauvin-Robinet C, Ververi A, DeVile C, Male A, Efthymiou S, Maroofian R, Houlden H, Maqbool S, Rahman F, Baratang NV, Rousseau J, St-Denis A, Elrick MJ, Anselm I, Rodan LH, Tartaglia M, Gleeson J, Kinoshita T, Campeau PM., Free PMC Article | 05/16/2020 |
| Report firstly demonstrated that inadequate protein-glycosylphosphatidylinositol anchoring caused by suppression of PIGK might affect the expression or function of some glycosylphosphatidylinositol-anchored proteins associated with tyrosinase activity. | Microsatellite polymorphism located immediately upstream of the phosphatidylinositol glycan, class K gene (PIGK) affects its expression, which correlates with tyrosinase activity in human melanocytes.
Okamura K, Hayashi M, Abe Y, Araki Y, Hozumi Y, Suzuki T. | 05/27/2017 |
| Our results demonstrate, for the first time, a link between the SNP 1048575 and low PIGK expression in CRC/HCC patients and also suggest a possible association between altered PIGK expression and disease susceptibility. | A single nucleotide polymorphism in the human PIGK gene associates with low PIGK expression in colorectal cancer patients.
Dasgupta S, Pal P, Mukhopadhyay ND, Fu Y, Ratovitski EA, Moon CS, Hoque MO, Fisher PB, Trink B. | 01/4/2014 |