Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion
C9ORF72-hexanucleotide repeat expansions and ubiquilin-2 (UBQLN2) mutations are
recently identified genetic markers in amyotrophic lateral sclerosis (ALS) and frontotemporal …
recently identified genetic markers in amyotrophic lateral sclerosis (ALS) and frontotemporal …
[HTML][HTML] Abnormal RNA stability in amyotrophic lateral sclerosis
…, HC Archbold, X Li, K Weskamp, N Safren… - Nature …, 2018 - nature.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) share key features,
including accumulation of the RNA-binding protein TDP-43. TDP-43 regulates RNA …
including accumulation of the RNA-binding protein TDP-43. TDP-43 regulates RNA …
Motor neuron disease, TDP-43 pathology, and memory deficits in mice expressing ALS–FTD-linked UBQLN2 mutations
…, I Kovlyagina, P Georgiou, N Safren… - Proceedings of the …, 2016 - National Acad Sciences
Missense mutations in ubiquilin 2 (UBQLN2) cause ALS with frontotemporal dementia (ALS–FTD).
Animal models of ALS are useful for understanding the mechanisms of pathogenesis …
Animal models of ALS are useful for understanding the mechanisms of pathogenesis …
Mutant UBQLN2 promotes toxicity by modulating intrinsic self-assembly
LM Sharkey, N Safren, AS Pithadia… - Proceedings of the …, 2018 - National Acad Sciences
UBQLN2 is one of a family of proteins implicated in ubiquitin-dependent protein quality
control and integrally tied to human neurodegenerative disease. Whereas wild-type UBQLN2 …
control and integrally tied to human neurodegenerative disease. Whereas wild-type UBQLN2 …
The proline/arginine dipeptide from hexanucleotide repeat expanded C9ORF72 inhibits the proteasome
…, M Lan, J Mojsilovic-Petrovic, WH Choi, N Safren… - Eneuro, 2017 - eneuro.org
An intronic hexanucleotide repeat expansion (HRE) mutation in the C9ORF72 gene is the
most common cause of familial ALS and frontotemporal dementia (FTD) and is found in ∼7% …
most common cause of familial ALS and frontotemporal dementia (FTD) and is found in ∼7% …
Inhibition of PIP4Kγ ameliorates the pathological effects of mutant huntingtin protein
…, SSP Giridharan, YC Chen, S Patnaik, N Safren… - elife, 2017 - elifesciences.org
10.7554/eLife.29123.001 The discovery of the causative gene for Huntington’s disease (HD)
has promoted numerous efforts to uncover cellular pathways that lower levels of mutant …
has promoted numerous efforts to uncover cellular pathways that lower levels of mutant …
[HTML][HTML] Pathogenic mutations in UBQLN2 exhibit diverse aggregation propensity and neurotoxicity
The ubiquitin-adaptor protein UBQLN2 promotes degradation of several aggregate-prone
proteins implicated in neurodegenerative diseases. Missense UBQLN2 mutations also cause …
proteins implicated in neurodegenerative diseases. Missense UBQLN2 mutations also cause …
[HTML][HTML] Ubiquilin-1 overexpression increases the lifespan and delays accumulation of Huntingtin aggregates in the R6/2 mouse model of Huntington's disease
N Safren, A El Ayadi, L Chang, CE Terrillion, TD Gould… - PloS one, 2014 - journals.plos.org
Huntington's Disease (HD) is a neurodegenerative disorder that is caused by abnormal
expansion of a polyglutamine tract in huntingtin (htt) protein. The expansion leads to increased …
expansion of a polyglutamine tract in huntingtin (htt) protein. The expansion leads to increased …
Monitoring neuronal survival via longitudinal fluorescence microscopy
K Weskamp, N Safren, R Miguez… - JoVE (Journal of Visualized …, 2019 - jove.com
Standard cytotoxicity assays, which require the collection of lysates or fixed cells at multiple
time points, have limited sensitivity and capacity to assess factors that influence neuronal fate…
time points, have limited sensitivity and capacity to assess factors that influence neuronal fate…
Ubiquilin-2 differentially regulates polyglutamine disease proteins
JE Gerson, N Safren, S Fischer, R Patel… - Human molecular …, 2020 - academic.oup.com
Divergent protein context helps explain why polyglutamine expansion diseases differ clinically
and pathologically. This heterogeneity may also extend to how polyglutamine disease …
and pathologically. This heterogeneity may also extend to how polyglutamine disease …