Article
CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development.
Nature genetics - 1 Nov 2012
Mochida Ganeshwaran H, Ganesh Vijay S, de Michelena Maria I, Dias Hugo, Atabay Kutay D, Kathrein Katie L, Huang Hsuan-Ting, Hill R Sean, Felie Jillian M, Rakiec Daniel, Gleason Danielle, Hill Anthony D, Malik Athar N, Barry Brenda J, Partlow Jennifer N, Tan Wen-Hann, Glader Laurie J, Barkovich A James, Dobyns William B, Zon Leonard I, Walsh Christopher A
Abstract excerpt
Charged multivesicular body protein 1A (CHMP1A; also known as chromatin-modifying protein 1A) is a member of the ESCRT-III (endosomal sorting complex required for transport-III) complex but is also suggested to localize to the nuclear matrix and regulate chromatin structure. Here, we show that loss-of-function mutations in human CHMP1A cause reduced cerebellar size (pontocerebellar hypoplasia) and reduced...
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