Literature DB >> 32235845

Disease-associated synaptic scaffold protein CNK2 modulates PSD size and influences localisation of the regulatory kinase TNIK.

Hanna L Zieger1,2, Stella-Amrei Kunde1, Nils Rademacher1,3, Bettina Schmerl1, Sarah A Shoichet4.   

Abstract

Scaffold proteins are responsible for structural organisation within cells; they form complexes with other proteins to facilitate signalling pathways and catalytic reactions. The scaffold protein connector enhancer of kinase suppressor of Ras 2 (CNK2) is predominantly expressed in neural tissues and was recently implicated in X-linked intellectual disability (ID). We have investigated the role of CNK2 in neurons in order to contribute to our understanding of how CNK2 alterations might cause developmental defects, and we have elucidated a functional role for CNK2 in the molecular processes that govern morphology of the postsynaptic density (PSD). We have also identified novel CNK2 interaction partners and explored their functional interdependency with CNK2. We focussed on the novel interaction partner TRAF2- and NCK-interacting kinase TNIK, which is also associated with ID. Both CNK2 and TNIK are expressed in neuronal dendrites and concentrated in dendritic spines, and staining with synaptic markers indicates a clear postsynaptic localisation. Importantly, our data highlight that CNK2 plays a role in directing TNIK subcellular localisation, and in neurons, CNK2 participates in ensuring that this multifunctional kinase is present in the correct place at desirable levels. In summary, our data indicate that CNK2 expression is critical for modulating PSD morphology; moreover, our study highlights that CNK2 functions as a scaffold with the potential to direct the localisation of regulatory proteins within the cell. Importantly, we describe a novel link between CNK2 and the regulatory kinase TNIK, and provide evidence supporting the idea that alterations in CNK2 localisation and expression have the potential to influence the behaviour of TNIK and other important regulatory molecules in neurons.

Entities:  

Year:  2020        PMID: 32235845     DOI: 10.1038/s41598-020-62207-4

Source DB:  PubMed          Journal:  Sci Rep        ISSN: 2045-2322            Impact factor:   4.379


  3 in total

1.  Cnksr2 Loss in Mice Leads to Increased Neural Activity and Behavioral Phenotypes of Epilepsy-Aphasia Syndrome.

Authors:  Eda Erata; Yudong Gao; Alicia M Purkey; Erik J Soderblom; James O McNamara; Scott H Soderling
Journal:  J Neurosci       Date:  2021-09-27       Impact factor: 6.167

Review 2.  Functions of CNKSR2 and Its Association with Neurodevelopmental Disorders.

Authors:  Hidenori Ito; Koh-Ichi Nagata
Journal:  Cells       Date:  2022-01-17       Impact factor: 6.600

3.  CNKSR2-related neurodevelopmental and epilepsy disorder: a cohort of 13 new families and literature review indicating a predominance of loss of function pathogenic variants.

Authors:  Leigh Ann Higa; Jennifer Wardley; Christopher Wardley; Susan Singh; Timothy Foster; Joseph J Shen
Journal:  BMC Med Genomics       Date:  2021-07-15       Impact factor: 3.063

  3 in total

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