KAT6A mutations drive transcriptional dysregulation of cell cycle and Autism risk genes in an Arboleda-Tham Syndrome cerebral organoid model

AA Nava, CT Jops, CK Vuong, SL Niles-Jensen… - bioRxiv, 2023 - biorxiv.org
Abstract Arboleda-Tham Syndrome (ARTHS, OMIM# 616268) is a rare neurodevelopmental
disorder caused by de novo mutations in KAT6A. Individuals with ARTHS typically exhibit …

Distinguishing Alzheimer's disease patients and biochemical phenotype Analysis using a novel serum profiling platform: potential involvement of the VWF/ADAMTS13 …

JS Hanas, JRS Hocker, CA Vannarath, MR Lerner… - Brain Sciences, 2021 - mdpi.com
It is important to develop minimally invasive biomarker platforms to help in the identification
and monitoring of patients with Alzheimer's disease (AD). Assisting in the understanding of …