[PDF][PDF] Context-dependent and disease-specific diversity in protein interactions within stress granules

S Markmiller, S Soltanieh, KL Server, R Mak, W Jin… - Cell, 2018 - cell.com
Stress granules (SGs) are transient ribonucleoprotein (RNP) aggregates that form during
cellular stress and are increasingly implicated in human neurodegeneration. To study the …

Large-scale tethered function assays identify factors that regulate mRNA stability and translation

…, JC Schmok, A Shankar, S Markmiller… - Nature structural & …, 2020 - nature.com
The molecular functions of the majority of RNA-binding proteins (RBPs) remain unclear,
highlighting a major bottleneck to a full understanding of gene expression regulation. Here, we …

[HTML][HTML] Programmable RNA tracking in live cells with CRISPR/Cas9

…, MY Fang, MR O'Connell, JL Xu, SJ Markmiller… - Cell, 2016 - cell.com
RNA-programmed genome editing using CRISPR/Cas9 from Streptococcus pyogenes has
enabled rapid and accessible alteration of specific genomic loci in many organisms. A …

[PDF][PDF] Elimination of toxic microsatellite repeat expansion RNA by RNA-targeting Cas9

…, N Zhang, V Nguyen, S Aigner, S Markmiller… - Cell, 2017 - cell.com
Microsatellite repeat expansions in DNA produce pathogenic RNA species that cause
dominantly inherited diseases such as myotonic dystrophy type 1 and 2 (DM1/2), Huntington's …

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

…, M McAlonis-Downes, S Markmiller… - Proceedings of the …, 2013 - National Acad Sciences
Expanded hexanucleotide repeats in the chromosome 9 open reading frame 72 (C9orf72)
gene are the most common genetic cause of ALS and frontotemporal degeneration (FTD). …

[PDF][PDF] Persistent mRNA localization defects and cell death in ALS neurons caused by transient cellular stress

S Markmiller, S Sathe, KL Server, TB Nguyen… - Cell Reports, 2021 - cell.com
Persistent cytoplasmic aggregates containing RNA binding proteins (RBPs) are central to
the pathogenesis of late-onset neurodegenerative disorders such as amyotrophic lateral …

[PDF][PDF] Small-molecule modulation of TDP-43 recruitment to stress granules prevents persistent TDP-43 accumulation in ALS/FTD

MY Fang, S Markmiller, AQ Vu, A Javaherian… - Neuron, 2019 - cell.com
Stress granules (SGs) form during cellular stress and are implicated in neurodegenerative
diseases such as amyotrophic lateral sclerosis and frontotemporal dementia (ALS/FTD). To …

[HTML][HTML] Huntington's disease mice and human brain tissue exhibit increased G3BP1 granules and TDP43 mislocalization

…, R Miramontes, LM Byrne, S Markmiller… - The Journal of …, 2021 - Am Soc Clin Investig
Chronic cellular stress associated with neurodegenerative disease can result in the persistence
of stress granule (SG) structures, membraneless organelles that form in response to …

Biallelic mutations in the 3′ exonuclease TOE1 cause pontocerebellar hypoplasia and uncover a role in snRNA processing

…, R Mande, A Widjaja, TL Shaw, S Markmiller… - Nature …, 2017 - nature.com
Deadenylases are best known for degrading the poly(A) tail during mRNA decay. The
deadenylase family has expanded throughout evolution and, in mammals, consists of 12 Mg 2+ -…

[HTML][HTML] Longitudinal assessment of tumor development using cancer avatars derived from genetically engineered pluripotent stem cells

T Koga, IA Chaim, JA Benitez, S Markmiller… - Nature …, 2020 - nature.com
Many cellular models aimed at elucidating cancer biology do not recapitulate pathobiology
including tumor heterogeneity, an inherent feature of cancer that underlies treatment …