Publications by authors named "Emel Saglar Ozer"
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.
Nephrogenic Diabetes Insipidus is a rare disorder which is characterized by severe water imbalance in the body. The disease can be acquired or inherited. AVPR2 (arginine vasopressin type 2 receptor) mutations are responsible for genetical type of the disorder.
View Article and Find Full Text PDFThe water channel aquaporin 2 (AQP2) is responsible for water reabsorption by kidney collecting duct cells. A substitution of amino acid leucine 137 to proline in AQP2 (AQP2-L137P) causes Nephrogenic Diabetes Insipidus (NDI). This study aimed to determine the cell biological consequences of this mutation on AQP2 function.
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