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Mario Mauthe

 Assistant Professor Profile
Assistant Professor
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My research centers on understanding how failures in cellular recycling processes contribute to neurodegenerative diseases. A major focus of my research is to understand how cells handle toxic protein aggregates, a hallmark of many neurodegenerative diseases, by dissecting the role of selective autophagy (aggrephagy) in their fragmentation and clearance. In parallel, we study Beta-propeller protein–associated neurodegeneration (BPAN), a rare NBIA disorder caused by mutations in the autophagy gene WDR45, where we investigate how defects in autophagy and mitochondrial biology drive disease progression. Through this work, we aim to reveal fundamental disease mechanisms and uncover potential therapeutic strategies for rare and common neurodegenerative conditions.
M. Mauthe

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