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SPTBN1 deficiency results in the mislocalization of SMAD3 and SMAD4 and loss of the TGF-dependent transcriptional response, which can be rescued by overexpression of the COOH-terminal region of SPTBN1 47

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Consequently, levodopa can provide symptomatic relief throughout most of the day with the right dosing regimens, though this may lead to increasing regimen complexity in advanced disease
