The activities of adenylosuccinate synthetase, adenylosuccinate lyase, and adenosine monophosphate deaminase were measured in muscle from patients suffering from fatigue and cramps following exercise. Results denote the existence of secondary deficiencies of adenylosuccinate synthetase and/or adenylosuccinate lyase in subjects with congenital or acquired myopathies. They also suggest that searches are warranted for primary deficiencies of adenylosuccinate synthetase as a cause of exercise intolerance.
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http://dx.doi.org/10.1002/(sici)1097-4598(199803)21:3<401::aid-mus16>3.0.co;2-1 | DOI Listing |
Orphanet J Rare Dis
November 2024
Cure ADSSL1, Glendale, CA, USA.
Mol Genet Genomic Med
November 2024
Department of Neurology, Sichuan Taikang Hospital, Chengdu, Sichuan, China.
Background: Distal myopathies are genetic muscle disorders caused by mutations in various genes. A study found that mutations in adenylosuccinate synthetase-like 1 (ADSSL1) are associated with distal myopathy in nine patients from six unrelated families in South Korea. Previous research showed that affected individuals experienced distal muscle weakness starting in adolescence, along with mild facial muscle weakness, slightly elevated or normal serum creatine kinase (CK) levels, and the presence of a few rimmed vacuoles in muscle fibers or minimal chronic myopathic damage.
View Article and Find Full Text PDFBiochemistry
December 2024
Department of Chemical Engineering, Stanford University, Stanford, California 94305, United States.
An attractive strategy for combating antibacterial resistance involves the development of new antibiotics whose mechanisms differ from those of existing ones in the clinic. Elfamycin antibiotics, whose prototypes include kirromycin and aurodox, are illustrative examples based on their ability to target EF-Tu, an essential component for protein translation in bacteria. Our efforts to revisit this antibiotic class were enabled by two developments.
View Article and Find Full Text PDFFEBS Lett
October 2024
School of Life Sciences, Central University of Gujarat, Gandhinagar, India.
Adenylosuccinate synthetase (AdSS), which catalyses the GTP-dependent conversion of inosine monophosphate (IMP) and aspartic acid to succinyl-AMP, plays a major role in purine biosynthesis. In some bacterial AdSS, it is implicated that IMP binding is important to organize the active site, but in certain plant AdSS, GTP performs this role. Here, we report that in Leishmania donovani AdSS, IMP binding favoured dimerization, induced greater conformational change and improved the protein stability more than GTP binding.
View Article and Find Full Text PDFJ Cancer
September 2024
Department of General Surgery, Guangxi Medical University Affliated Wuming Hospital, Nanning 530199, China.
Breast cancer (BRCA) is the most common malignant tumor and the leading cause of cancer death worldwide. Adenylosuccinate synthetase (ADSS) is highly expressed in BRCA and its subtypes malignant tumors and is associated with poor prognosis. By applying ROC curve, survival analysis, WGCNA, enrichment analysis, Cox regression model and other methods, this study explores the role of ADSS in BRCA and constructs a scoring model.
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