Skip to search formSkip to main contentSkip to account menu
17β-Estradiol regulates insulin-degrading enzyme expression via an ERβ/PI3-K pathway in hippocampus: Relevance to Alzheimer's prevention
View on Elsevier
Mysteries of α1-antitrypsin deficiency: emerging therapeutic strategies for a challenging disease
TLDR
Wide variation in the incidence and severity of liver and lung disease among individuals with ATD has made this disease one of the most challenging of the rare genetic disorders to diagnose and treat.
View on Publisher
A Carboxyl Ester Lipase (CEL) Mutant Causes Chronic Pancreatitis by Forming Intracellular Aggregates That Activate Apoptosis*
TLDR
The results demonstrate that disorders of protein homeostasis can lead to CP and suggest that novel therapies to decrease the intracellular accumulation of misfolded protein may be successful in some patients with CP.
View on Publisher
Capitalizing on the Autophagic Response for Treatment of Liver Disease Caused by Alpha-1-Antitrypsin Deficiency and Other Genetic Diseases
TLDR
This review will discuss autophagy enhancer strategies for liver disease due to ATD and another genetic liver disease, inherited hypofibrinogenemia, caused by the proteotoxic effects of a misfolded protein.
View PDF
Mutation analysis of the Smad3 gene in human osteoarthritis
TLDR
This is the first report showing that the Smad3 gene mutations could be associated with the pathogenesis of human OA, and the single base mutation located in the linker region of the SMAD3 protein resulted in an asparagine to isoleucine amino-acid substitution.
View on Nature
Saitohin, which is nested within the tau gene, interacts with tau and Abl and its human‐specific allele influences Abl phosphorylation
TLDR
It is reported that STH also interacts with tau and the non‐receptor tyrosine kinase c‐Abl (Abl), and the effect of Saitohin on Abl‐mediated phosphorylation appears to be allele‐specific, providing evidence for a new cellular function for STH.
View on Wiley
An SRp75/hnRNPG complex interacting with hnRNPE2 regulates the 5' splice site of tau exon 10, whose misregulation causes frontotemporal dementia.
View on PubMed
Heterogeneous nuclear ribonucleoprotein E3 modestly activates splicing of tau exon 10 via its proximal downstream intron, a hotspot for frontotemporal dementia mutations.
View on PubMed
Porcine pancreatic lipase related protein 2 has high triglyceride lipase activity in the absence of colipase.
View on PubMed
An analog of glibenclamide selectively enhances autophagic degradation of misfolded α1-antitrypsin Z
TLDR
It is shown that glibenclamide (GLB), a sulfonylurea drug that has been used broadly in clinical medicine as an oral hypoglycemic agent, promotes autophagic degradation of misfolded ATZ in mammalian cell line models of ATD.
View PDF
...
...
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License