Search Results - "Bregalda, Alessandro"
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Myelin basic protein recovery during PKU mice lifespan and the potential role of microRNAs on its regulation
Published in Neurobiology of disease (01-05-2023)“…Untreated phenylketonuria (PKU) patients and PKU animal models show hypomyelination in the central nervous system and white matter damages, which are…”
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Biochemical Studies on Human Ornithine Aminotransferase Support a Cell-Based Enzyme Replacement Therapy in the Gyrate Atrophy of the Choroid and Retina
Published in International journal of molecular sciences (01-07-2024)“…The gyrate atrophy of the choroid and retina (GACR) is a rare genetic disease for which no definitive cure is available. GACR is due to the deficit of…”
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New findings about neuropathological outcomes in the PKU mouse throughout lifespan
Published in Molecular genetics and metabolism (01-09-2024)“…Phenylketonuria (PKU, OMIM 261600) is a genetic disorder caused by a deficiency of the hepatic enzyme phenylalanine hydroxylase (PAH). If left untreated, PKU…”
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Journal Article