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An Epilepsy-Causing Mutation Leads to Co-Translational Misfolding of the Kv7.2 Channel
(Springer, 2021-05-21)
BACKGROUND: The amino acid sequence of proteins generally carries all the necessary information for acquisition of native conformations, but the vectorial nature of translation can additionally determine the folding outcome. ...
The Multifunctional Role of SPANX-A/D Protein Subfamily in the Promotion of Pro-Tumoural Processes in Human Melanoma
(Nature, 2021-02-11)
Human sperm protein associated with the nucleus on the X chromosome (SPANX) genes encode a protein family (SPANX-A, -B, -C and -D), whose expression is limited to the testis and spermatozoa in normal tissues and various ...
P-Rex1 is a novel substrate of the E3 ubiquitin ligase Malin associated with Lafora disease
(Elsevier, 2023-01)
Laforin and Malin are two proteins that are encoded by the genes EPM2A and EPM2B, respectively. Laforin is a glucan phosphatase and Malin is an E3-ubiquitin ligase, and these two proteins function as a complex. Mutations ...
Translational Bioinformatics for Human Reproductive Biology Research: Examples, Opportunities and Challenges for a Future Reproductive Medicine
(MDPI, 2022-12-20)
Since 1978, with the first IVF (in vitro fertilization) baby birth in Manchester (England), more than eight million IVF babies have been born throughout the world, and many new techniques and discoveries have emerged in ...
Fine-tuning of the Hsc70-based Human Protein Disaggregase Machinery by the Distinctive C-terminal Extension of Apg2
(Elsevier, 2022-11)
Apg2, one of the three cytosolic Hsp110 chaperones in humans, supports reactivation of unordered and ordered protein aggregates by Hsc70 (HspA8). Together with DnaJB1, Apg2 serves to nucleate Hsc70 molecules into sites ...
Multi-Omics Integration Highlights the Role of Ubiquitination in CCl4-Induced Liver Fibrosis
(MDPI, 2020-11-27)
Liver fibrosis is the excessive accumulation of extracellular matrix proteins that occurs in chronic liver disease. Ubiquitination is a post-translational modification that is crucial for a plethora of physiological ...
Neddylation inhibition ameliorates steatosis in NAFLD by boosting hepatic fatty acid oxidation via DEPTOR-mTOR axis
(Elsevier, 2021-06-18)
[EN] Objective: Neddylation is a druggable and reversible ubiquitin-like post-translational modification upregulated in many diseases, including liver
fibrosis, hepatocellular carcinoma, and more recently, non-alcoholic ...
Restoring cellular magnesium balance through Cyclin M4 protects against acetaminophen-induced liver damage
(Nature, 2022-11)
Drug induced liver injury (DILI) is an important cause acute liver failure. Here the authors report that serum Mg2+ serum levels decrease in patients with DILI as well as in preclinical animal models treated with acetaminophen ...
Identification of substrates for human deubiquitinating enzymes (DUBs): An up-to-date review and a case study for neurodevelopmental disorders
(Elsevier, 2022-12)
Similar to the reversal of kinase-mediated protein phosphorylation by phosphatases, deubiquitinating enzymes (DUBs) oppose the action of E3 ubiquitin ligases and reverse the ubiquitination of proteins. A total of 99 human ...
Towards a new generation of non-cytotoxic shape memory thermoplastic polyurethanes for biomedical applications
(Elsevier, 2022-12)
In recent decades, the technology of polymeric materials used in biomedical applications has been greatly improved, replacing the metals that had been used until now. This change has not only meant an improvement in the ...