Article
Individuals with SATB2-associated syndrome with and without autism have a recognizable metabolic profile and distinctive cellular energy metabolism alterations.
Metabolic brain disease - 1 Jun 2021
Zarate Yuri A, Örsell Jenny-Li, Bosanko Katherine, Srikanth Sujata, Cascio Lauren, Pauly Rini, Boccuto Luigi
Abstract excerpt
SATB2-associated syndrome (SAS) is a multisystemic disorder characterized by developmental delay often with concurrent autistic tendencies. This study aimed to characterize cellular metabolic pathways and energy metabolism from cells derived from individuals with SAS. The cellular production of NADH (nicotinamide adenine dinucleotide, reduced form) as determined by the Phenotype Mammalian MicroArrays was measured...
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