[HTML][HTML] Altered glia-neuron communication in Alzheimer's Disease affects WNT, p53, and NFkB Signaling determined by snRNA-seq

TM Soelter, TC Howton, AD Clark, VH Oza… - … and Signaling: CCS, 2024 - ncbi.nlm.nih.gov
Background Alzheimer's disease is the most common cause of dementia and is
characterized by amyloid-β plaques, tau neurofibrillary tangles, and neuronal loss. Although …

[HTML][HTML] The landscape of SETBP1 gene expression and transcription factor activity across human tissues

JH Whitlock, EJ Wilk, TC Howton, AD Clark… - Plos one, 2024 - journals.plos.org
The SET binding protein 1 (SETBP1) gene encodes a transcription factor (TF) involved in
various cellular processes. Variants in SETBP1 can result in three different diseases …

Evaluation of altered cell-cell communication between glia and neurons in the hippocampus of 3xTg-AD mice at two time points

TM Soelter, TC Howton, EJ Wilk, JH Whitlock, AD Clark… - bioRxiv, 2024 - biorxiv.org
Alzheimer's disease (AD) is the most common form of dementia and is characterized by
progressive memory loss and cognitive decline, affecting behavior, speech, and motor …

Cell-type-specific alternative splicing in the cerebral cortex of a Schinzel-Giedion Syndrome patient variant mouse model

EF Jones, TC Howton, TM Soelter, AB Crumley… - bioRxiv, 2024 - biorxiv.org
Schinzel-Giedion Syndrome (SGS) is an ultra-rare Mendelian disorder caused by gain-of-
function mutations in the SETBP1 gene. While previous studies determined multiple roles for …

Expression and regulation of SETBP1 in the song system of male zebra finches (Taeniopygia guttata) during singing

DJ Groenberg, SL Pinto de Carvalho, N Dernerova… - bioRxiv, 2024 - biorxiv.org
Rare de novo heterozygous loss-of-function SETBP1 variants lead to a neurodevelopmental
disorder characterized by speech deficits, indicating a potential involvement of SETBP1 in …