LAB FINDINGS
See our new transgenic mouse model of Alzheimer’s disease
Fuller et al. Human Molecular Genetics ddae139. In press (2024)
Prion pathology in UBQLN2 models of ALS
Le et al. Neurobiology of Disease 201, 106674 (2024)
UBQLN2 functions as a sensor of heat shock
Phung et al. BBA General Subjects 1867, 130284 (2023)
Aberrant accumulation of Serpins in mutant UBQLN2 mice
Higgins et al. Brain Pathology 31, e12948 (2021)
Read our review on UBQLN proteins in health and disease
Lin et al. FEBS J doi:1111/febs.16129 (2021)
Proteome changes in the hippocampus and spinal cord in the P497S UBQLN2 mouse model of ALS/FTD
Whiteley et al. J. Biol Chem 296: 100153 (2021)
https://www.sciencedirect.com/science/article/pii/S0021925820001465?via%3Dihub
Overexpression of UBQLN1 reduces neuropathology in the P497S UBQLN2 mouse model of ALS/FTD
Wang et al. Acta Neuropathologica Comm 8: article number 164 (2020)
https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-020-01039-9
ALS/FTD mutations in UBQLN2 are linked to mitochondrial dysfunction
Lin et al. Human Molecular Genetics Volume 30, 1230–1246 (2021).https://academic.oup.com/hmg/article-abstract/30/13/1230/6246260?redirectedFrom=fulltext
ALS/FTD mutations in UBQLN2 impede autophagy by reducing autophagosome acidification through loss of function
Wu et al. PNAS 117, 15230-41 (2020).
Motor neuron disease, TDP-43 pathology, and memory deficits in mice expressing ALS/FTD-linked mutations in UBQLN2
Le et al. PNAS 113:E7580-9 (2016).
Identification of UBQLN2 interaction with hnRNP proteins linking proteostasis and RNA regulation
Gilpin et al. Human Molecular Genetics Volume 24, 2565-77 (2015).
https://academic.oup.com/hmg/article/24/9/2565/2385804
Defective proteasome delivery of ubiquitinated cargo by ALS/FTD mutant UBQLN2 proteins
Chang et al. PLoS One doi:10.1371/0130162 (2015).
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0130162
Overexpression of UBQLN1 extends survival in the R6/2 mouse model of Huntington’s disease
Safren et al. PLoS One doi:10.1371/0087513 (2014).
https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0087513
Demonstration that mutant ATP13a2 proteins that cause Parkinson’s disease cause ER stress and are degraded by ERAD
Ugolino et al. Hum Mol Genet 20:3565-77 (2011).
Ubiquilin functions in autophagy and is degraded by CMA
Rottenberg et al. Hum Mol Genet 19:3219-32 (2010).
https://academic.oup.com/hmg/article/19/16/3219/629479?login=true
Identification of UBQLN function in ER-associated degradation (ERAD)
Lim et al. J. Cell Biol. 187:201-17 (2009).
https://rupress.org/jcb/article/187/2/201/35487/Ubiquilin-and-p97-VCP-bind-erasin-forming-a
First evidence that polyglutamine expansions in huntingtin protein increase mitochondrial fragmentation
Wang et al. Hum Mol Genet 18:737-52 (2009).
Suppression of expanded polyglutamine toxicity by ubiquilin
Wang et al. Hum Mol Genet 15:1025-41 (2006).
Discovery of erasin/UBXN4, a new ER protein, involved in ER-associated degradation (ERAD)
Liang et al. J. Cell Science 119: 4011-24 (2006).
Discovery and naming of human Ubiquilin proteins by interaction with presenilins
Mah et al. J. Cell Biol 151: 847-862 (2000).
https://rupress.org/jcb/article/151/4/847/32134/Identification-of-Ubiquilin-a-Novel-Presenilin