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Showing 1 to 7 of 7 for “"Settore BIO/06 - Anatomia Comparata e Citologia"”.
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THE IN-VIVO IMPACT OF SMPX MUTATIONS DURING DEVELOPMENT AND DISEASE
The small muscle protein, X-linked (SMPX) gene encodes a cytoskeleton-associated protein, highly expressed in both cardiac and skeletal muscles, as well as in the inner ear, with suggested roles as mechano-transductor. In the last decade, several mutations in SMPX, mainly nonsense and frameshift, …
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A NOVEL RIT2-LRRK2 AXIS MODULATES LYSOSOME FUNCTION: INSIGHT FOR PARKINSON'S DISEASE PATHOPHYSIOLOGY
La disfunzione lisosomiale è un fattore determinante nella patogenesi della malattia di Parkinson (PD). L’attività chinasica di Leucine-rich repeat kinase 2 (LRRK2) modula autofagia e funzionalità lisosomiale, e la sua inibizione farmacologica è protettiva per neurodegenerazione e patologia di …