Int J Mol Sci
January 2025
The ubiquitin proteasome system (UPS) is implicated in protein homeostasis. One of the proteins involved in this system is HERC1 E3 ubiquitin ligase, which was associated with several processes including the normal development and neurotransmission at the neuromuscular junction (NMJ), autophagy in projection neurons, myelination of the peripheral nervous system, among others. The tambaleante (tbl) mouse model carries the spontaneous mutation Gly483Glu substitution in the HERC1 E3 protein.
View Article and Find Full Text PDFIntroduction: Open ureteroenteric reimplantation (OUER) of ureteroenteric strictures (UESs) is related to important morbidity. Robot-assisted ureteroenteric reimplantation (RUER) has been proposed to provide similar outcomes with lower morbidity. We aimed to compare perioperative and functional outcomes between RUER and OUER.
View Article and Find Full Text PDFType III galactosemia is characterized by the inability to metabolize galactose due to deficiency of the UDP-galactose-4-epimerase (GALE) gene, which catalyzes the interconversion of UDP-Galactose and UDP-Glucose. Additionally, GALE interconverts UDP-N-Acetylgalactosamine and UDP-N-Acetylglucosamine. These four sugars are needed for glycosylation of biomolecules.
View Article and Find Full Text PDFGrowth differentiation factor 15 (GDF15) is a secreted protein that regulates food intake, body weight and stress responses in pre-clinical models. The physiological function of GDF15 in humans remains unclear. Pharmacologically, GDF15 agonism in humans causes nausea without accompanying weight loss, and GDF15 antagonism is being tested in clinical trials to treat cachexia and anorexia.
View Article and Find Full Text PDFThis case report describes a distinctive presentation of invasive metastatic tonsillar head and neck squamous cell carcinoma (HNSCC) that recurred in a 34-year-old African American inmate, defying the expectations of conventional risk factors. This case underscores the significance of nuanced care in atypical HNSCC scenarios. The patient presented in October 2021 with bilateral lymphadenopathy and dysphagia, which led to the diagnosis of tonsillar squamous cell carcinoma.
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