Muffels(IJJ),Budhraja(R),Shah(R),Radenkovi... Mol Genet Metab 2025-00-00

...PGM1-CDG, spanning different tissues, including induced cardiomyocytes, human cortical organoids, fibroblasts, and lymph...

Zeng(L),Xu(H),Li(M),Qin(LJ),Chen(K),Wang(F... Cell Death Dis 2025-08-12

...PGM1 expression by decreasing the transcriptional activity of promoter 3 of PGM1, and PGM1 overexpression may reverse th...

Muffels(IJJ),Budhraja(R),Radenkovic(S),Sha... Mol Ther Methods Clin Dev 2025-09-11

...PGM1-CDG) to examine the abundance of AAV-binding glycan species. Additionally, we assessed the abundance of coreceptors...

Driesen(K),De Craemer(S),Morava(E),Cassima... ACS Omega 2025-09-23

...PGM1)-CDG fibroblasts. Here, we show, for the first time, the hexose-phosphate profiles in CDG and how these change upon...

Soejima(M),Koda(Y) Diagnostics (Basel) 2025-09-16

...PGM1) is an enzyme that plays important roles in glycolysis, glycogen metabolism, and glycosylation. The PGM1 gene harbo...

Yu(J Y),Shao(S M),Xiong(Y Z) Genet Mol Res 2016-01-15

The phosphoglucomutase 1 (PGM1) gene was differentially expressed in tissues of Chinese Meishan and Large White pigs. In...

Wang(Dahui),Chen(Feifei),Wei(Gongyuan),Jia... Carbohydr Polym 2016-02-09

...pgm1 and fks genes, and supplied more ATP intracellularly, which were propitious to further pullulan biosynthesis. The e...

van Scherpenzeel(Monique),Steenbergen(Gerr... Transl Res 2016-03-21

...PGM1-CDG], mannosyl (α-1,6-)-glycoprotein β-1,2-N-acetylglucosaminyltransferase [MGAT2-CDG], β-1,4-galactosyltransferase...

Schrapers(Esther),Tegtmeyer(Laura C),Simic... JIMD Rep 2016-05-12

...PGM1-gene (c.1145-222 G>T) leads to a complex alternative splicing pattern and to almost complete absence of PGM1 activi...

Loewenthal(Neta),Haim(Alon),Parvari(Ruti),... Am J Med Genet A 2016-10-20

...PGM1 gene. The clinical picture of PGM1 deficiency is variable among patients with the same mutation and genetic backgro...