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Lesch-Nyhan disease: A rare disorder with many unresolved aspects

deficits [ 78 ]. Such hypothesis was confirmed by several studies conducted in the last decade in HPRT-deficient cell models [ 79 , 80 ] and in HPRT-deficient human neural stem cells [ 81 ]. Aberrant expression of several vital transcription factors involved in DA-neuron development and in pan-neuronal differentiation has been demonstrated in cultured HPRT-deficient human teratocarcinoma NT cells (NT2). Such studies provided direct experimental evidence for aberrant neurogenesis in HPRT deficiency and suggested impaired upregulation of tyrosine hydroxylase (TH, the rate

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