Glycogenin 1 抗体

Tasca, Fattori, Monforte, Hedberg-Oldfors, Sabatelli, Udd, Boldrini, Bertini, Ricci, Oldfors: "Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods." in: Journal of neurology, Vol. 263, Issue 10, pp. 2133-5, (2016) (PubMed).

Hedberg-Oldfors, Glamuzina, Ruygrok, Anderson, Elliott, Watkinson, Occleshaw, Abernathy, Turner, Kingston, Murphy, Oldfors: "Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature." in: Journal of inherited metabolic disease, Vol. 40, Issue 1, pp. 139-149, (2016) (PubMed).

Nilsson, Halim, Larsson, Moslemi, Oldfors, Larson, Nilsson: "LC-MS/MS characterization of combined glycogenin-1 and glycogenin-2 enzymatic activities reveals their self-glucosylation preferences." in: Biochimica et biophysica acta, Vol. 1844, Issue 2, pp. 398-405, (2014) (PubMed).

Malfatti, Nilsson, Hedberg-Oldfors, Hernandez-Lain, Michel, Dominguez-Gonzalez, Viennet, Akman, Kornblum, Van den Bergh, Romero, Engel, DiMauro, Oldfors: "A new muscle glycogen storage disease associated with glycogenin-1 deficiency." in: Annals of neurology, Vol. 76, Issue 6, pp. 891-8, (2014) (PubMed).

Taylor, Meyers, Phipps, Kishnani, Cheng, Scheule, Moreland: "Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease." in: PLoS ONE, Vol. 8, Issue 2, pp. e56181, (2013) (PubMed).

Nilsson, Halim, Moslemi, Pedersen, Nilsson, Larson, Oldfors: "Molecular pathogenesis of a new glycogenosis caused by a glycogenin-1 mutation." in: Biochimica et biophysica acta, Vol. 1822, Issue 4, pp. 493-9, (2012) (PubMed).

Hertel, Zhou, Hamilton-Dutoit, Junker: "Loss of B cell identity correlates with loss of B cell-specific transcription factors in Hodgkin/Reed-Sternberg cells of classical Hodgkin lymphoma." in: Oncogene, Vol. 21, Issue 32, pp. 4908-20, (2002) (PubMed).

Foss, Reusch, Demel, Lenz, Anagnostopoulos, Hummel, Stein: "Frequent expression of the B-cell-specific activator protein in Reed-Sternberg cells of classical Hodgkin's disease provides further evidence for its B-cell origin." in: Blood, Vol. 94, Issue 9, pp. 3108-13, (1999) (PubMed).

Adams, Dörfler, Aguzzi, Kozmik, Urbánek, Maurer-Fogy, Busslinger: "Pax-5 encodes the transcription factor BSAP and is expressed in B lymphocytes, the developing CNS, and adult testis." in: Genes & development, Vol. 6, Issue 9, pp. 1589-607, (1992) (PubMed).