Abstract
There are no indications for the involvement of one specific erythrocyte membrane protein in the formation of acanthocytes in neuroacanthocytosis, with two notable exceptions: the XK protein and the anion exchanger band 3. Changes in structure and/or function of erythrocyte band 3 are consistent findings in patients with neuroacanthocytosis. These changes are probably secondary to other processes, which may include changes in the lipid composition of the erythrocyte membrane. As band 3 is associated with a number of membrane and cytosolic proteins, changes in band 3 not only affect cell shape, but also total cell homeostasis. Elucidation of the disease-related changes in band 3 may be instrumental in the elucidation of the molecular causes of neuroacanthocytosis.
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Bosman, G.J.C.G.M., Horstink, M.W.I.M., De Grip, W.J. (2004). Erythrocyte Membrane Abnormalities in Neuroacanthocytosis: Evidence for a Neuron-Erythrocyte Axis?. In: Danek, A. (eds) Neuroacanthocytosis Syndromes. Springer, Dordrecht. https://doi.org/10.1007/1-4020-2898-9_17
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DOI: https://doi.org/10.1007/1-4020-2898-9_17
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