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Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration
- Wan, Jijun;
- Yourshaw, Michael;
- Mamsa, Hafsa;
- Rudnik-Schöneborn, Sabine;
- Menezes, Manoj P;
- Hong, Ji Eun;
- Leong, Derek W;
- Senderek, Jan;
- Salman, Michael S;
- Chitayat, David;
- Seeman, Pavel;
- von Moers, Arpad;
- Graul-Neumann, Luitgard;
- Kornberg, Andrew J;
- Castro-Gago, Manuel;
- Sobrido, María-Jesús;
- Sanefuji, Masafumi;
- Shieh, Perry B;
- Salamon, Noriko;
- Kim, Ronald C;
- Vinters, Harry V;
- Chen, Zugen;
- Zerres, Klaus;
- Ryan, Monique M;
- Nelson, Stanley F;
- Jen, Joanna C
Published Web Location
https://doi.org/10.1038/ng.2254Abstract
Jaonna Jen and colleagues identify mutations in EXOSC3, encoding a core RNA exosome component, causing pontocerebellar hypoplasia type 1 (PCH1), a recessive disorder with heterogeneous defects in brain development. Nine out of 13 individuals diagnosed with PCH1 had missense, frameshift or exon-skipping mutations in EXOSC3, suggesting a critical role of RNA metabolism in normal brain development.
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