Publications by authors named "Refika Dilara Vaizoglu"
J Clin Endocrinol Metab
October 2024
Article Synopsis
- Aggregations of misfolded proteins are linked to various diseases, including a rare condition called Autosomal dominant neurohypophyseal diabetes insipidus (ADNDI) caused by mutations in the AVP-NPII gene leading to cellular dysfunction due to accumulated proteins in the endoplasmic reticulum (ER).
- The study aimed to investigate the formation of amyloid-like aggregates from mutant precursor proteins linked to specific mutations found in ADNDI patients, examining factors such as glycosylation patterns and degradation pathways.
- Results indicated that mutant precursors maintained their glycan structure, were involved in degradation pathways, formed oligomers, and demonstrated fibril formation in bacterial models, providing insights into the mechanisms underlying ADNDI.
