Article

Neuronal differentiation and activity drive nucleocytoplasmic shuttling of the intellectual disability kinase TLK2

2025-02-24

Abstract excerpt

Mental retardation autosomal dominant 57 (MRD57) is a rare neurodevelopmental disorder characterised by delayed language and psychomotor development, intellectual disability, hypotonia, gastrointestinal issues and facial dysmorphia. It is linked to genetic mutations in the serine/threonine kinase TLK2, characterised by haploinsufficiency and in some cases, its loss or impaired kinase function. TLK2 is an establish...

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Literature Corpus work: caeebbbb-1d1a-5b6a-8cfa-48a22e1c3842
DOI: 10.1101/2025.02.20.639293

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