Biomedical Research and Pathophysiology

BACKGROUND: Fabry's disease, an X-linked disorder of lysosomal α-galactosidase deficiency, leads to substrate accumulation in multiple organs. Migalastat, an oral pharmacologic chaperone, stabilizes specific mutant forms of α-galactosidase, increasing enzyme trafficking to lysosomes. METHODS: The initial assay of muta…

• FATİH SÜHEYL EZGÜ

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• ASUDE AKSOY

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• SİREN SEZER

BACKGROUND: Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks down endocytosed lipid particles and regulates lipid metabolism. We conducted a phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, an underappreciated cause of cirrhosis and se…

BACKGROUND: Lysosomal acid lipase is an essential lipid-metabolizing enzyme that breaks down endocytosed lipid particles and regulates lipid metabolism. We conducted a phase 3 trial of enzyme-replacement therapy in children and adults with lysosomal acid lipase deficiency, an underappreciated cause of cirrhosis and se…

• FATİH SÜHEYL EZGÜ

The small ciliary G protein Arl13b is required for cilium biogenesis and sonic hedgehog signaling and is mutated in patients with Joubert syndrome (JS). In this study, using Caenorhabditis elegans and mammalian cell culture systems, we investigated the poorly understood ciliary and molecular basis of Arl13b function.…

• SEBİHA ÇEVİK KAPLAN

The small ciliary G protein Arl13b is required for cilium biogenesis and sonic hedgehog signaling and is mutated in patients with Joubert syndrome (JS). In this study, using Caenorhabditis elegans and mammalian cell culture systems, we investigated the poorly understood ciliary and molecular basis of Arl13b function.…

• OKTAY İSMAİL KAPLAN

OBJECTIVE: Pediatric urolithiasis is a rarely encountered pathology, except in endemic areas such as Turkey. As a recurrent pathology which may reveal functional as well and morphologic changes in the urinary tract, metabolic and environmental factors, in addition to urogenital abnormalities, should be evaluated thoro…

• MEHMET TARAKÇIOĞLU

OBJECTIVE: Pediatric urolithiasis is a rarely encountered pathology, except in endemic areas such as Turkey. As a recurrent pathology which may reveal functional as well and morphologic changes in the urinary tract, metabolic and environmental factors, in addition to urogenital abnormalities, should be evaluated thoro…

• AYŞE BİNNUR ÖZYURT

Coffee, as a source of acrylamide, needs to be investigated in depth to understand the contribution of different precursors. This study aimed to investigate the contributions of sucrose decomposition and lipid oxidation on acrylamide formation in coffee during roasting. Coffee beans and model systems were used to moni…

• TOLGAHAN KOCADAĞLI

Coffee, as a source of acrylamide, needs to be investigated in depth to understand the contribution of different precursors. This study aimed to investigate the contributions of sucrose decomposition and lipid oxidation on acrylamide formation in coffee during roasting. Coffee beans and model systems were used to moni…

• NESLİHAN TAŞ