نتایج جستجو برای: neuroaxonal dystrophy
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Case presentation: Male, 6 years old, only child of healthy and non-consanguineous parents. Born at term, weighing 3960 g, by cesarean delivery. Under neurological follow-up since 1 year 4 months age due to delayed neuro psychomotor development with motor regression between 6–8 age. At that time, he had incomplete head support could not sit or stand. 3 age, was referred the Pediatric Neurology ...
Lysosomal diseases are a family of over 50 disorders caused by defects in proteins critical for normal function of the endosomal/lysosomal system and characterized by complex pathogenic cascades involving progressive dysfunction of many organ systems, most notably the brain. Evidence suggests that compromise in lysosomal function is highly varied and leads to changes in multiple substrate proce...
The INAD scaffold organizes a multiprotein complex that is essential for proper visual signaling in Drosophila photoreceptor cells. Here we show that one of the INAD PDZ domains (PDZ5) exists in a redox-dependent equilibrium between two conformations--a reduced form that is similar to the structure of other PDZ domains, and an oxidized form in which the ligand-binding site is distorted through ...
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