Sphingolipid Metabolism Perturbations in Rett Syndrome

Rett syndrome is a severe neurodevelopmental disorder affecting mostly females and is caused by loss-of-function mutations in the MECP2 gene that encoded the methyl-CpG-binding protein 2. The pathogenetic mechanisms of Rett syndrome are not completely understood and metabolic derangements are emergi...

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Bibliographic Details
Published in:Metabolites
Main Authors: Cappuccio, Gerarda, Donti, Taraka, Pinelli, Michele, Bernardo, Pia, Bravaccio, Carmela, Elsea, Sarah H., Brunetti-Pierri, Nicola
Format: Artigo
Language:Inglês
Published: MDPI 2019
Subjects:
Communication
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC6835521/
https://ncbi.nlm.nih.gov/pubmed/31658741
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/metabo9100221
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