Rett syndrome (RTT) is a rare neurodevelopmental disease. Mutations in MECP2 (located on the X chromosome) are the most common cause. However, mutations in other genes such as CDKL5 and FOXG1 have been reported to produce a Rett-like phenotype. How these different genetic defects determine similar clinical features has yet to be elucidated. Italian researchers […]
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Posts with tag 'professionals'
Sphingolipids and brain, when friends become foes
Lipids constitute approximately half of the dry weight of the brain, their composition and quantity can vary throughout life and generic defects in their synthesis or metabolism can lead to impaired brain development and neurodegenerative disorders, both in children and adults. However, we do not know everything about lipids and it is not surprising that […]
Small-molecule cocktails can convert fibroblasts into functional neurons
Last August, the cover of the prestigious journal Cell Stem Cell, was dedicated to a pioneering discovery made by two independent groups that obtained functional neuron cells from human and mouse fibroblasts cultured with a cocktail of several small molecules. This finding may position these Chinese researchers at the cutting edge of translational and regenerative […]
Prognosis of patients with nonketotic hyperglycinemia, is it feasible?
Nonketotic hyperglycinemia (NKH) is a rare genetic disorder caused by a defect in the machinery for the breakdown of the amino acid glycine . Above all, it is a very complex disease, since it does not affect all the patients the same way. Because of the huge differences observed in the outcome, researchers from United […]
Pharmacological chaperones, a new mechanism to protect tyrosine hydroxylase from degradation
Tyrosine hydroxylase (TH) is an enzyme that converts the amino acid L-tyrosine into the neurotrasmitter L-DOPA, fundamental for the normal functioning of the nervous system. Mutations in the gene that codes for TH cause a reduction in enzyme activity and are associated to disorders like tyrosine hydroxylase deficiency (THD), Parkinson’s disease and Alzheimer’s disease. For […]
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