Enhanced association of mutant triosephosphate isomerase to red cell membranes and to brain microtubules

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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.