Generation of a homozygous CRISPR/Cas9-mediated knockout human iPSC line for the STUB1 locus.
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2018.101378
Abstract: STUB1/CHIP is a central component of cellular protein homeostasis and interacts with key proteins involved in the pathogenesis of many neurodegenerative diseases. Missense and truncating mutations in STUB1 lead to SCAR16. For ideal in vitro… read more here.
Keywords: line; homozygous crispr; generation homozygous; crispr cas9 ... See more keywords
Correspondence on “Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment” by Roux et al.
Sign Up to like & getrecommendations! Published in 2021 at "Genetics in Medicine"
DOI: 10.1038/s41436-021-01104-1
Abstract: With great interest, we read the publication by Roux et al. about the occurrence of STUB1 variants in mostly dominant cerebellar ataxias. We here provide data on heterozygous STUB1 variants observed in 46 patients in… read more here.
Keywords: cause; stub1; age; ataxia patients ... See more keywords
Regulation of STUB1 expression and its biological significance in mouse Sertoli cells
Sign Up to like & getrecommendations! Published in 2022 at "Systems Biology in Reproductive Medicine"
DOI: 10.1080/19396368.2022.2027554
Abstract: Abstract STIP1 Homology and U-Box Containing Protein 1 (STUB1), a ubiquitin E3 ligase initially involved in immune responses, has recently emerged as a pleiotropic regulator of different biological systems, including skeletal and male reproduction systems.… read more here.
Keywords: sertoli; stub1 expression; expression; testis ... See more keywords
Bay41-4109-induced aberrant polymers of hepatitis b capsid proteins are removed via STUB1-promoted p62-mediated macroautophagy
Sign Up to like & getrecommendations! Published in 2022 at "PLoS Pathogens"
DOI: 10.1371/journal.ppat.1010204
Abstract: The hepatitis B virus (HBV) core protein (HBc) functions in multiple steps of the viral life cycle. Heteroaryldihydropyrimidine compounds (HAPs) such as Bay41-4109 are capsid protein allosteric modulators that accelerate HBc degradation and inhibit the… read more here.
Keywords: bay41 4109; induced aberrant; capsid; stub1 ... See more keywords
Network-Based Expression Analyses and Experimental Verifications Reveal the Involvement of STUB1 in Acute Kidney Injury
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Molecular Biosciences"
DOI: 10.3389/fmolb.2021.655361
Abstract: Acute kidney injury (AKI) is a severe and frequently observed condition associated with high morbidity and mortality. The molecular mechanisms underlying AKI have not been elucidated due to the complexity of the pathophysiological processes. Thus,… read more here.
Keywords: acute kidney; kidney injury; expression; stub1 ... See more keywords
A Severe Dementia Syndrome Caused by Intron Retention and Cryptic Splice Site Activation in STUB1 and Exacerbated by TBP Repeat Expansions
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Molecular Neuroscience"
DOI: 10.3389/fnmol.2022.878236
Abstract: Heterozygous pathogenic variants in the STIP1 homologous and U-box containing protein 1 (STUB1) gene have been identified as causes of autosomal dominant inherited spinocerebellar ataxia type 48 (SCA48). SCA48 is characterized by an ataxic movement… read more here.
Keywords: splice; dementia syndrome; stub1; cryptic splice ... See more keywords