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<i>TTBK2</i> mutations associated with spinocerebellar ataxia type 11 disrupt peroxisome dynamics and ciliary localization of SHH signaling proteins

2023-02-01

Abstract excerpt

<h4>ABSTRACT</h4> Frameshift mutations in Tau Tubulin Kinase 2 ( TTBK2 ) cause spinocerebellar ataxia type 11 (SCA11), which is characterized by the progressive loss of Purkinje cells and cerebellar atrophy. Previous work showed that these TTBK2 variants generate truncated proteins that interfere with primary ciliary trafficking and with Sonic Hedgehog (SHH) signaling in mice. Nevertheless, the molecular mecha...

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Identifiers and source

Literature Corpus work
ab873284-74b2-5a41-abdd-dc48a20ea3ca
DOI
10.1101/2023.01.31.526333
Open publication

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