Marnie Williams

Jan 13, 2025 | biorxiv.org | Taylor M Benske |Marnie Williams |Pei-Pei Zhang |Adrian J Palumbo

AbstractN-methyl-D-aspartate receptors (NMDARs) are essential for excitatory neurotransmission and their pathogenic variants can lead to proteostasis defects and thus neurological diseases. However, how the proteostasis network degrades pathogenic variants is not well understood.

Nov 29, 2024 | biorxiv.org | Marnie Williams |Ya-Juan Wang |Jing-Qiong Kang |Tingwei Mu

AbstractThe gamma-aminobutyric acid type A receptor (GABAAR) is the most common inhibitory neurotransmitter-gated ion channel in the central nervous system. Pathogenic variants in genes encoding GABAAR subunits can cause receptor dysfunction and lead to genetic epilepsy. Frameshift variants in these genes can result in a premature termination codon, producing truncated receptor subunit variants.

Sep 10, 2020 | fox5atlanta.com | Marnie Williams

Sep 9, 2020 | fox13news.com | Marnie Williams

Jan 23, 2020 | dailybuzztv.com | Marnie Williams