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One of the main aims of the research in my lab is to elucidate the molecular basis of neurodegeneration. Since no unbiased genetic screens in model organisms were performed to sample genes that cause neurodegenerative phenotypes, we embarked on such a screen in fly photoreceptors and isolated 700 mutations corresponding to 165 complementation groups. This screen has provided a very rich resource of novel mutants for the fly community, and has permitted us to dissect mechanisms for a variety of diseases, including Charcot-Marie-Tooth disease, Leigh syndrome and Friedreich’s ataxia. This screen has also led to the identification of mutations in 32 genes that encode proteins that are targeted to mitochondria. By exploring the molecular mechanisms of these rare diseases we were able to determine that biochemical pathways are affected that also play a role in Parkinson’s disease, Amyotrophic Lateral Sclerosis, and Alzheimer’s disease. These pathways are now being studied intensely in the lab.
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EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 6-7
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Nature Communicationsno. 1 (2024)
Nature Neuroscienceno. 4 (2024): 1-3
Felipe Martelli, Jiayi Lin, Sarah Mele, Wendy Imlach,Oguz Kanca,Christopher K. Barlow,Jefferson Paril,Ralf B. Schittenhelm, John Christodoulou,Hugo J. Bellen,Matthew D. W. Piper,Travis K. Johnson
CELL REPORTSno. 3 (2024): 113861-113861
Trends in molecular medicine (2024)
crossref(2024)
Ye-Jin Park,Tzu-Chiao Lu,Tyler Jackson,Lindsey D. Goodman, Lindsey Ran,Jiaye Chen,Chung-Yi Liang, Erin Harrison, Christina Ko,Ao-Lin Hsu,Shinya Yamamoto,Yanyan Qi,
bioRxiv the preprint server for biology (2024)
Blake Vuocolo,Ryan J German,Seema R Lalani,Chaya N Murali,Carlos A Bacino, Stephanie Baskin,Rebecca Littlejohn,John D Odom,Scott McLean, Carrie Schmid, Morgan Nutter, Melissa Stuebben,
Genetics in medicine : official journal of the American College of Medical Geneticsno. 6 (2024): 101102-101102
Nature communicationsno. 1 (2024): 3326-3326
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