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000291648 1001_ $$0P:(DE-HGF)0$$aArnskötter, Frederik$$b0$$eFirst author
000291648 245__ $$aLoss of Elp1 in cerebellar granule cell progenitors models ataxia phenotype of Familial Dysautonomia.
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000291648 520__ $$aFamilial Dysautonomia (FD) is an autosomal recessive disorder caused by a splice site mutation in the gene ELP1, which disproportionally affects neurons. While classically characterized by deficits in sensory and autonomic neurons, neuronal defects in the central nervous system have also been described. Although ELP1 expression remains high in the normal developing and adult cerebellum, its role in cerebellar development is unknown. To explore the role of Elp1 in the cerebellum, we knocked out Elp1 in cerebellar granule cell progenitors (GCPs) and examined the outcome on animal behavior and cellular composition. We found that GCP-specific conditional knockout of Elp1 (Elp1cKO) resulted in ataxia by 8 weeks of age. Cellular characterization showed that the animals had smaller cerebella with fewer granule cells. This defect was already apparent as early as 7 days after birth, when Elp1cKO animals also had fewer mitotic GCPs and shorter Purkinje dendrites. Through molecular characterization, we found that loss of Elp1 was associated with an increase in apoptotic cell death and cell stress pathways in GCPs. Our study demonstrates the importance of ELP1 in the developing cerebellum, and suggests that loss of Elp1 in the GC lineage may also play a role in the progressive ataxia phenotypes of FD patients.
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000291648 650_7 $$2Other$$aCerebellum
000291648 650_7 $$2Other$$aDevelopment
000291648 650_7 $$2Other$$aELP1
000291648 650_7 $$2Other$$aElongator complex
000291648 650_7 $$2Other$$aFamilial Dysautonomia
000291648 650_7 $$2Other$$aGranule cell progenitor
000291648 650_7 $$2Other$$aNeurodevelopmental disorder
000291648 650_7 $$2Other$$aataxia
000291648 7001_ $$0P:(DE-HGF)0$$ada Silva, Patricia Benites Goncalves$$b1
000291648 7001_ $$0P:(DE-He78)5594c679f326d172a700b0348505d0a0$$aSchouw, Mackenna Elisa$$b2
000291648 7001_ $$0P:(DE-He78)dd00524c9fcf576d8a3a04d23598f750$$aLukasch, Chiara$$b3$$udkfz
000291648 7001_ $$0P:(DE-He78)c46ef00deda8baa32d5bbefbea3bedb2$$aBianchini, Luca$$b4$$udkfz
000291648 7001_ $$0P:(DE-He78)a4101d4d75f0b7d1f24f67ccbe63164b$$aSieber, Laura$$b5$$udkfz
000291648 7001_ $$aGarcia-Lopez, Jesus$$b6
000291648 7001_ $$aAhmad, Shiekh Tanveer$$b7
000291648 7001_ $$aLi, Yiran$$b8
000291648 7001_ $$aLin, Hong$$b9
000291648 7001_ $$0P:(DE-He78)ee036c22158d4b18f5228616af640355$$aJoshi, Piyush$$b10$$udkfz
000291648 7001_ $$0P:(DE-He78)32e1cd66202cf8dcee5c06d46ff9c92e$$aSpänig, Lisa$$b11$$udkfz
000291648 7001_ $$0P:(DE-He78)6e20f186b61ef367bb80e3012e672a28$$aRados, Magdalena$$b12
000291648 7001_ $$0P:(DE-He78)4543601bf14234f35021d658a5228201$$aRoiuk, Mykola$$b13$$udkfz
000291648 7001_ $$aSepp, Mari$$b14
000291648 7001_ $$0P:(DE-He78)2a8fbc2efe7e5e468472d57f724fe39b$$aZuckermann, Marc$$b15$$udkfz
000291648 7001_ $$aNorthcott, Paul A$$b16
000291648 7001_ $$0P:(DE-He78)7de884e25564c58f26d5c8dbed578256$$aPatrizi, Annarita$$b17$$udkfz
000291648 7001_ $$0P:(DE-He78)a56d7a8e916d458441b5ac9484d73c5d$$aKutscher, Lena$$b18$$eLast author$$udkfz
000291648 773__ $$0PERI:(DE-600)1471408-5$$a10.1016/j.nbd.2024.106600$$gVol. 199, p. 106600 -$$p106600$$tNeurobiology of disease$$v199$$x0969-9961$$y2024
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