Creatine kinase in human erythrocytes: a genetic anomaly reveals presence of soluble brain-type isoform
For maintaining energy homeostasis, creatine kinase (CK) is present at elevated levels in tissues with high and/or fluctuating energy requirements such as muscle, brain, and epithelia, while there is very few CK, if any, in peripheral blood cells. However, an ectopic expression of brain-type creatin...
Gespeichert in:
| Hauptverfasser: | , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
18 March 2017
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| In: |
Blood cells, molecules & diseases
Year: 2017, Jahrgang: 64, Pages: 33-37 |
| ISSN: | 1096-0961 |
| DOI: | 10.1016/j.bcmd.2017.03.008 |
| Online-Zugang: | Verlag, Volltext: http://dx.doi.org/10.1016/j.bcmd.2017.03.008 Verlag, Volltext: http://www.sciencedirect.com/science/article/pii/S1079979616302583 
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| Verfasserangaben: | Laurence Kay, Malgorzata Tokarska-Schlattner, Bénédicte Quenot-Carrias, Betty Goudet, Peter Bugert, Heidwolf Arnold, Günter Scheuerbrandt, Uwe Schlattner |
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| 245 | 1 | 0 | |a Creatine kinase in human erythrocytes |b a genetic anomaly reveals presence of soluble brain-type isoform |c Laurence Kay, Malgorzata Tokarska-Schlattner, Bénédicte Quenot-Carrias, Betty Goudet, Peter Bugert, Heidwolf Arnold, Günter Scheuerbrandt, Uwe Schlattner |
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| 520 | |a For maintaining energy homeostasis, creatine kinase (CK) is present at elevated levels in tissues with high and/or fluctuating energy requirements such as muscle, brain, and epithelia, while there is very few CK, if any, in peripheral blood cells. However, an ectopic expression of brain-type creatine kinase (BCK) has been reported for platelets and leukocytes in an autosomal dominant inherited anomaly named CKBE. Here we investigated CK in erythrocytes of CKBE individuals from eight unrelated families. The data revealed a varying but significant increase of CK activity in CKBE individuals as compared to controls, reaching an almost 800-fold increase in two CKBE individuals which also had increased erythrocyte creatine. Immunoblotting with highly specific antibodies confirmed that the expressed CK isoform is BCK. Cell fractionation evidenced soluble BCK, suggesting cytosolic and not membrane localization of erythrocyte CK as reported earlier. These results are discussed in the context of putative CK energy buffering and transfer functions in red blood cells. | ||
| 650 | 4 | |a Brain-type creatine kinase | |
| 650 | 4 | |a Cellular localization | |
| 650 | 4 | |a Ectopic expression | |
| 650 | 4 | |a Human erythrocytes | |
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