Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.
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ABSTRACT:
SUBMITTER: Neul JL
PROVIDER: S-EPMC7052375 | biostudies-literature | 2020
REPOSITORIES: biostudies-literature
Publications
Metabolic Signatures Differentiate Rett Syndrome From Unaffected Siblings.
Neul Jeffrey L JL Skinner Steven A SA Annese Fran F Lane Jane J Heydemann Peter P Jones Mary M Kaufmann Walter E WE Glaze Daniel G DG Percy Alan K AK
Frontiers in integrative neuroscience 20200225
Rett syndrome (RTT, OMIM 312750), a severe neurodevelopmental disorder characterized by regression with loss of spoken language and hand skills, development of characteristic hand stereotypies, and gait dysfunction, is primarily caused by <i>de novo</i> mutations in the X-linked gene <i>Methyl-CpG-binding protein 2</i> (<i>MECP2</i>). Currently, treatment options are limited to symptomatic management, however, reversal of disease phenotype is possible in mouse models by restoration of normal <i> ...[more]
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