Enhanced association of mutant triosephosphate isomerase to red cell membranes and to brain microtubules
Proceedings of the National Academy of Sciences2000Vol. 97(3), pp. 1026–1031
Citations Over TimeTop 16% of 2000 papers
Ferenc Orosz, Gábor Wágner, Károly Liliom, Joseph A. Kovacs, Klára Baróti, M. Horányi, Tibor Farkas, Susan R. Hollán, Judit Ovádi
Abstract
In a Hungarian family with triosephosphate isomerase (TPI; D-glyceraldehyde-3-phosphate keto-isomerase, EC 5.3.1.1) deficiency, two germ-line identical, but phenotypically differing compound heterozygote brothers (one of them with neurological disorder) have been identified with the same very low ( brother without neurological disorder > normal control. This distinct microcompartmentation of mutant proteins may be relevant in the development of the neurodegenerative process in TPI deficiency and in other, more common neurological diseases.
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