Hippocampal synaptic connectivity in phenylketonuria

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چکیده

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Hippocampal synaptic connectivity in phenylketonuria.

In humans, lack of phenylalanine hydroxylase (Pah) activity results in phenylketonuria (PKU), which is associated with the development of severe mental retardation after birth. The underlying mechanisms, however, are poorly understood. Mutations of the Pah gene in Pah(enu2)/c57bl6 mice result in elevated levels of phenylalanine in serum similar to those in humans suffering from PKU. In our stud...

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The cellular mechanisms that underlie impaired brain function during phenylketonuria (PKU), the most common biochemical cause of mental retardation in humans, remain unclear. Acute application of L-Phe at concentrations observed in the PKU brain depresses glutamatergic synaptic transmission but does not affect GABA receptor activity in cultured neurons. If these depressant effects of L-Phe take...

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ژورنال

عنوان ژورنال: Human Molecular Genetics

سال: 2014

ISSN: 0964-6906,1460-2083

DOI: 10.1093/hmg/ddu515