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Browsing by Author "O'Hern, Patrick"
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Decreased function of survival motor neuron protein impairs endocytic pathways
Dimitriadi, Maria; Derdowski, Aaron; Kalloo, Geetika; Maginnis, Melissa S; O'Hern, Patrick; Bliska, Bryn; Sorkaç, Altar; Nguyen, Ken C Q; Cook, Steven J; Poulogiannis, George; Atwood, Walter J; Hall, David H; Hart, Anne C (2016-07-26)Spinal muscular atrophy (SMA) is caused by depletion of the ubiquitously expressed survival motor neuron (SMN) protein, with 1 in 40 Caucasians being heterozygous for a disease allele. SMN is critical for the assembly of ... -
Single copy/knock-in models of ALS SOD1 in C. elegans suggest loss and gain of function have different contributions to cholinergic and glutamatergic neurodegeneration
Baskoylu, Saba N; Yersak, Jill; O'Hern, Patrick; Grosser, Sarah; Simon, Jonah; Kim, Sarah; Schuch, Kelsey; Dimitriadi, Maria; Yanagi, Katherine S; Lins, Jeremy; Hart, Anne C (2018-10-08)Mutations in Cu/Zn superoxide dismutase 1 (SOD1) lead to Amyotrophic Lateral Sclerosis (ALS), a neurodegenerative disease that disproportionately affects glutamatergic and cholinergic motor neurons. Previous work with SOD1 ...