Today is #TBCK Awareness Day!🧬

The name TBCK syndrome derives from the gene which, when altered, can cause this condition. The TBCK gene name is an abbreviation of ‘TBC1 Domain Containing Kinase’.

Read our quick read guide on TBCK syndrome head to: bit.ly/TBCK

Frontiers | Decoding TBCK: from bioinformatic insights of domain architecture to disease implications

Our latest review on #TBCK and #TBCKSyndrome is out now in Frontiers in Biophysics!! We look into the multi-domain architecture of the protein and its cellular function, shedding light on how mutations can lead to neurological disorders. #Raredisease www.frontiersin.org/journals/bio...

🧬Meet TBCK, a key regulator in cell growth & metabolism. Mutations in TBCK cause TBCK Syndrome, a rare neurodevelopmental disorder linked to motor delays, hypotonia, & intellectual disability. Understanding TBCK helps uncover new therapeutic paths!🧠✨ #RareDiseaseThursday #TBCK

Neurogenetic disorders associated with mutations in the FERRY complex: a novel disease class? Summary: This Review provides a summary of cellular and molecular data about TBCK, PPP1R21, and FERRY3, components of the FERRY complex, and compares clinical symptoms observed upon their mutation.

I'm excited to share that we have a new paper out! This is a review about a #RareDisease. We propose that #TBCK Syndrome, #PPP1R21 related intellectual disability, and #FERRY3 intellectual disability, all rare disease, may constitute a new disease class. (1/4)
journals.biologists.com/bio/article/...

Today is #TBCK Awareness Day! 🧬

To read our quick read guide on TBCK syndrome head to: bit.ly/TBCK

#TBCKAwarenessDay #RareButNotAlone #UniqueCharity #GeneticDisorders #ChromosomeDisorders