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- 2015
- An ER-directed gelsolin nanobody targets the first step in amyloid formation in a gelsolin amyloidosis mouse model
- 2014
- The deubiquitinase USP15 antagonizes Parkin-mediated mitochondrial ubiquitination and mitophagy
- Mutations in IFT172 cause isolated retinal degeneration and Bardet-Biedl syndrome
- Abnormal retinal development associated with FRMD7 mutations
- 2013
- GATA3 antagonizes cancer progression in PTEN-deficient prostates
- Contribution of growth differentiation factor 6-dependent cell survival to early-onset retinal dystrophies
- Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
- Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes
- 2012
- Loss of Maged1 results in obesity, deficits of social interactions, impaired sexual behavior and severe alteration of mature oxytocin production in the hypothalamus
- GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling