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000132746 1001_ $$aMerk, Daniel J$$b0
000132746 245__ $$aOpposing Effects of CREBBP Mutations Govern the Phenotype of Rubinstein-Taybi Syndrome and Adult SHH Medulloblastoma.
000132746 260__ $$aCambridge, Mass.$$bCell Press$$c2018
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000132746 520__ $$aRecurrent mutations in chromatin modifiers are specifically prevalent in adolescent or adult patients with Sonic hedgehog-associated medulloblastoma (SHH MB). Here, we report that mutations in the acetyltransferase CREBBP have opposing effects during the development of the cerebellum, the primary site of origin of SHH MB. Our data reveal that loss of Crebbp in cerebellar granule neuron progenitors (GNPs) during embryonic development of mice compromises GNP development, in part by downregulation of brain-derived neurotrophic factor (Bdnf). Interestingly, concomitant cerebellar hypoplasia was also observed in patients with Rubinstein-Taybi syndrome, a congenital disorder caused by germline mutations of CREBBP. By contrast, loss of Crebbp in GNPs during postnatal development synergizes with oncogenic activation of SHH signaling to drive MB growth, thereby explaining the enrichment of somatic CREBBP mutations in SHH MB of adult patients. Together, our data provide insights into time-sensitive consequences of CREBBP mutations and corresponding associations with human diseases.
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000132746 7001_ $$aOhli, Jasmin$$b1
000132746 7001_ $$aMerk, Natalie D$$b2
000132746 7001_ $$0P:(DE-He78)26c413e17f63cb683978f4025fcb831e$$aThatikonda, Venu$$b3$$udkfz
000132746 7001_ $$aMorrissy, Sorana$$b4
000132746 7001_ $$aSchoof, Melanie$$b5
000132746 7001_ $$aSchmid, Susanne N$$b6
000132746 7001_ $$aHarrison, Luke$$b7
000132746 7001_ $$aFilser, Severin$$b8
000132746 7001_ $$aAhlfeld, Julia$$b9
000132746 7001_ $$0P:(DE-He78)df8660bc5aba525f7fb6dba4aac15c1c$$aErkek, Serap$$b10$$udkfz
000132746 7001_ $$aRaithatha, Kaamini$$b11
000132746 7001_ $$aAndreska, Thomas$$b12
000132746 7001_ $$aWeißhaar, Marc$$b13
000132746 7001_ $$aLaunspach, Michael$$b14
000132746 7001_ $$aNeumann, Julia E$$b15
000132746 7001_ $$aShakarami, Mehdi$$b16
000132746 7001_ $$aPlenker, Dennis$$b17
000132746 7001_ $$aMarra, Marco A$$b18
000132746 7001_ $$aLi, Yisu$$b19
000132746 7001_ $$aMungall, Andrew J$$b20
000132746 7001_ $$aMoore, Richard A$$b21
000132746 7001_ $$aMa, Yussanne$$b22
000132746 7001_ $$aJones, Steven J M$$b23
000132746 7001_ $$aLutz, Beat$$b24
000132746 7001_ $$aErtl-Wagner, Birgit$$b25
000132746 7001_ $$aRossi, Andrea$$b26
000132746 7001_ $$aWagener, Rabea$$b27
000132746 7001_ $$aSiebert, Reiner$$b28
000132746 7001_ $$aJung, Andreas$$b29
000132746 7001_ $$aEberhart, Charles G$$b30
000132746 7001_ $$aLach, Boleslaw$$b31
000132746 7001_ $$aSendtner, Michael$$b32
000132746 7001_ $$0P:(DE-He78)f746aa965c4e1af518b016de3aaff5d9$$aPfister, Stefan$$b33$$udkfz
000132746 7001_ $$aTaylor, Michael D$$b34
000132746 7001_ $$aChavez, Lukas$$b35
000132746 7001_ $$0P:(DE-He78)4c28e2aade5f44d8eca9dd8e97638ec8$$aKool, Marcel$$b36$$udkfz
000132746 7001_ $$aSchüller, Ulrich$$b37
000132746 773__ $$0PERI:(DE-600)2053870-4$$a10.1016/j.devcel.2018.02.012$$gVol. 44, no. 6, p. 709 - 724.e6$$n6$$p709 - 724.e6$$tDevelopmental cell$$v44$$x1534-5807$$y2018
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