Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features.
Doha, Qatar. In Cell Rep, 03 Apr 2015
We conducted an etiological study on two siblings with Sotos features without mutations in NSD1 and detected a homozygous frameshift mutation in the APC2 gene by whole-exome sequencing, which resulted in the loss of function of cytoskeletal regulation in neurons.
Ca(2+) regulation of mitochondrial function in neurons.
Madrid, Spain. In Biochim Biophys Acta, Oct 2014
Two Ca(2+)-regulated mitochondrial metabolite transporters are expressed in neurons, the aspartate-glutamate exchanger ARALAR/AGC1/Slc25a12, a component of the malate-aspartate shuttle, and the ATP-Mg/Pi exchanger SCaMC-3/APC2/Slc25a23, with S0.5 for Ca(2+) of 300nM and 3.4μM, respectively.