| Identification of a novel A4GALT*299A allele associated with the rare p phenotype in one Chinese family. | Identification of a novel A4GALT*299A allele associated with the rare p phenotype in one Chinese family.
Mo C, Jia S, Luo G, Ji Y. | 04/16/2024 |
| Identification of a novel P1PK allele (A4GALT*c.1-504_1044del1548) in two Chinese sisters with a history of recurrent spontaneous abortion. | Identification of a novel P1PK allele (A4GALT*c.1-504_1044del1548) in two Chinese sisters with a history of recurrent spontaneous abortion.
Jia S, Li S, Liao Z, Mo C, Fang Q, Luo G, Ji Y. | 10/29/2022 |
| Missing the sweet spot: one of the two N-glycans on human Gb3/CD77 synthase is expendable. | Missing the sweet spot: one of the two N-glycans on human Gb3/CD77 synthase is expendable.
Mikolajczyk K, Bereznicka A, Szymczak-Kulus K, Haczkiewicz-Lesniak K, Szulc B, Olczak M, Rossowska J, Majorczyk E, Kapczynska K, Bovin N, Lisowska M, Kaczmarek R, Miazek A, Czerwinski M. | 04/9/2022 |
| Blood group P1 prediction using multiplex PCR genotyping of A4GALT among Thai blood donors. | Blood group P1 prediction using multiplex PCR genotyping of A4GALT among Thai blood donors.
Thinley J, Nathalang O, Chidtrakoon S, Intharanut K. | 11/6/2021 |
| Human Gb3/CD77 synthase produces P1 glycotope-capped N-glycans, which mediate Shiga toxin 1 but not Shiga toxin 2 cell entry. | Human Gb3/CD77 synthase produces P1 glycotope-capped N-glycans, which mediate Shiga toxin 1 but not Shiga toxin 2 cell entry.
Szymczak-Kulus K, Weidler S, Bereznicka A, Mikolajczyk K, Kaczmarek R, Bednarz B, Zhang T, Urbaniak A, Olczak M, Park EY, Majorczyk E, Kapczynska K, Lukasiewicz J, Wuhrer M, Unverzagt C, Czerwinski M., Free PMC Article | 09/4/2021 |
| The interaction between flagellin and the glycosphingolipid Gb3 on host cells contributes to Bacillus cereus acute infection. | The interaction between flagellin and the glycosphingolipid Gb3 on host cells contributes to Bacillus cereus acute infection.
Gao S, Ni C, Huang W, Hao H, Jiang H, Lv Q, Zheng Y, Liu P, Kong D, Jiang Y., Free PMC Article | 04/13/2021 |
| Two Thai Burmese descendants with A4GALT*01N.21, p phenotype, and anti-PP1Pk. | Two Thai Burmese descendants with A4GALT*01N.21, p phenotype, and anti-PP1Pk.
Intharanut K, Sasikarn W, Chusri W, Nathalang O. | 09/12/2020 |
| After serological and molecular biology tests on the patient and her family members, we confirmed that the patient and her sister possessed p phenotype, and the habitual abortion that occurred in the patient was caused by the anti-PP1Pk antibody. The p phenotype is a rare phenotype in P1Pk blood system, individuals with p phenotype lack all of the antigens of the P1Pk blood system and possess anti-PP1Pk antibody in their | The synonymous 903C>G mutation in the alpha 1,4-galactosyltransferase gene in a Chinese woman with habitual abortion: A case report.
Lv X, Chen Y, Luo Y, Li L, Wang H., Free PMC Article | 08/17/2019 |
| These data indicate that RUNX1 regulates A4GALT and thereby the expression of clinically important glycosphingolipids implicated in blood group incompatibility and host-pathogen interactions. | Allele-selective RUNX1 binding regulates P1 blood group status by transcriptional control of A4GALT.
Westman JS, Stenfelt L, Vidovic K, Möller M, Hellberg Å, Kjellström S, Olsson ML. | 05/18/2019 |
| The differential binding of transcription factor early growth response 1 to the SNP rs5751348 genomic region with the different genotypes in the A4GALT gene leads to differential activation of P(1) -A4GALT and P(2) -A4GALT expression. | The differential expression of the blood group P(1) -A4GALT and P(2) -A4GALT alleles is stimulated by the transcription factor early growth response 1.
Yeh CC, Chang CJ, Twu YC, Hung ST, Tsai YJ, Liao JC, Huang JT, Kao YH, Lin SW, Yu LC. | 11/17/2018 |
| A4GALT SNPs spur extra products of the human Gb3/CD77 synthase and underlie the P1PK blood group system | Single nucleotide polymorphisms in A4GALT spur extra products of the human Gb3/CD77 synthase and underlie the P1PK blood group system.
Kaczmarek R, Szymczak-Kulus K, Bereźnicka A, Mikołajczyk K, Duk M, Majorczyk E, Krop-Watorek A, Klausa E, Skowrońska J, Michalewska B, Brojer E, Czerwinski M., Free PMC Article | 08/11/2018 |
| Study reports a novel mutation in the A4GALT gene that was responsible for a p phenotype in a Chinese individual. | A novel mutation in A4GALT was identified in a Chinese individual with p phenotype.
Li X, Diao X, Xia X, Hong X, Zhu F. | 03/17/2018 |
| amino acid residue at position 211 of Gb3/CD77 synthase is critical for specificity and activity of the enzyme involved in formation of P(k), P1 and NOR antigens. Altogether, this approach affords a new insight into the mechanism of action of the human Gb3/CD77 synthase. | Evaluation of an amino acid residue critical for the specificity and activity of human Gb3/CD77 synthase.
Kaczmarek R, Mikolajewicz K, Szymczak K, Duk M, Majorczyk E, Krop-Watorek A, Buczkowska A, Czerwinski M., Free PMC Article | 12/9/2017 |
| This is the first direct biochemical evidence that Gb3/CD77 synthase is able to synthesize two different glycosphingolipid antigens: P(k) and P1, and when p.Q211E substitution is present, the NOR antigen is also synthesized. | Human Gb3/CD77 synthase reveals specificity toward two or four different acceptors depending on amino acid at position 211, creating P(k), P1 and NOR blood group antigens.
Kaczmarek R, Duk M, Szymczak K, Korchagina E, Tyborowska J, Mikolajczyk K, Bovin N, Szewczyk B, Jaskiewicz E, Czerwinski M. | 06/11/2016 |
| Mutation in the A4GALT gene is associated with rare p phenotype in P1Pk blood group system. | [Molecular basis for an individual with rare p phenotype in P1Pk blood group system].
Ma K, Lan X, Xu X, Hong X, Chen S, Liu Y, Ying Y, He J, Zhu F, Lyu H. | 06/20/2015 |
| The results of this investigation demonstrate a consistent association of A4GALT SNPs rs2143918 and rs5751348 with the P1/P2 phenotypes and suggest that SNP rs5751348 may lead to allelic variations in A4GALT gene expression | A systematic study of single-nucleotide polymorphisms in the A4GALT gene suggests a molecular genetic basis for the P1/P2 blood groups.
Lai YJ, Wu WY, Yang CM, Yang LR, Chu CC, Chan YS, Lin M, Yu LC. | 02/14/2015 |
| these data elucidate a new explanation underlying the p phenotype, implicating the deleted regions of A4GALT as crucial for P1 and P(k) synthesis, possibly due to loss of binding sites for erythroid transcription factors. | Large deletions involving the regulatory upstream regions of A4GALT give rise to principally novel P1PK-null alleles.
Westman JS, Hellberg A, Peyrard T, Thuresson B, Olsson ML. | 10/4/2014 |
| P1-decorated PSGL-1/mIgG2b bound with high avidity to both Stx1 and Stx2, and as such constitutes a potential therapeutic inhibitor of these toxins. | Shiga-like toxin binds with high avidity to multivalent O-linked blood group P1 determinants on mucin-type fusion proteins.
Maria Cherian R, Gaunitz S, Nilsson A, Liu J, Karlsson NG, Holgersson J. | 07/26/2014 |
| several P1PK-null alleles were identified. | P1/P2 genotyping of known and novel null alleles in the P1PK and GLOB histo-blood group systems.
Westman JS, Hellberg A, Peyrard T, Hustinx H, Thuresson B, Olsson ML. | 02/1/2014 |
| Results suggest that the C631G mutation alters the acceptor specificity of Gb3/CD77 synthase, rendering it able to catalyze synthesis of the Gal(alpha1-4)Gal and Gal(alpha1-4)GalNAc moieties. | A single point mutation in the gene encoding Gb3/CD77 synthase causes a rare inherited polyagglutination syndrome.
Suchanowska A, Kaczmarek R, Duk M, Lukasiewicz J, Smolarek D, Majorczyk E, Jaskiewicz E, Laskowska A, Wasniowska K, Grodecka M, Lisowska E, Czerwinski M., Free PMC Article | 01/26/2013 |
| Increased globotriaosylceramide levels are detected in a transgenic mouse expressing human alpha1,4-galactosyltransferase in a mouse model for treating Fabry disease. | Increased globotriaosylceramide levels in a transgenic mouse expressing human alpha1,4-galactosyltransferase and a mouse model for treating Fabry disease.
Shiozuka C, Taguchi A, Matsuda J, Noguchi Y, Kunieda T, Uchio-Yamada K, Yoshioka H, Hamanaka R, Yano S, Yokoyama S, Mannen K, Kulkarni AB, Furukawa K, Ishii S., Free PMC Article | 07/2/2011 |
| 2 Taiwanese individuals with p phenotype were homozygous for a & 428. No expression of P(k) & no enzyme activity were observed in cells transfected with the mutant construct. | Functional characterisation of a complex mutation in the α(1,4)galactosyltransferase gene in Taiwanese individuals with p phenotype.
Wang YC, Chang CF, Lin HC, Lin KS, Lin KT, Hung CM, Lin TM. | 06/25/2011 |
| Total urinary protein isoforms of globotriaosylceramide were used to identify Fabry disease in women. | Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study.
Paschke E, Fauler G, Winkler H, Schlagenhauf A, Plecko B, Erwa W, Breunig F, Urban W, Vujkovac B, Sunder-Plassmann G, Kotanko P. | 06/18/2011 |
| Data showed that GRINA-C was associated with Gb3 synthase, and may demonstrate a new type of posttranscriptional regulation of glycosyltransferases. | Transmembrane BAX inhibitor motif containing (TMBIM) family proteins perturbs a trans-Golgi network enzyme, Gb3 synthase, and reduces Gb3 biosynthesis.
Yamaji T, Nishikawa K, Hanada K., Free PMC Article | 02/26/2011 |
| of A4GALT mRNA in cultured human bone marrow cells revealed novel transcripts containing only the noncoding exon 1 and a sequence (here termed exon 2a) from intron 1. | Identification of a novel A4GALT exon reveals the genetic basis of the P1/P2 histo-blood groups.
Thuresson B, Westman JS, Olsson ML. | 02/26/2011 |