Tricellulin is a tight-junction protein necessary for hearing

Article Abstract:

Tricellulin is concentrated in the tight-type tight junctions (TJs) of mammalian inner-ear epithelia, including the tricellular junctions of the reticular lamina of the organ of Corti. It is also demonstrated that there are multiple alternatively spliced isoforms of TRIC in various tissues and that mutations of TRIC associated with hearing loss remove most of a conserved region in the cytosolic domain that binds to the cytosolic scaffolding protein ZO-1.

Epithelial cells, Protein folding, Hearing disorders

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Ribosomal protein S24 gene is mutated in Diamond-Blackfan anemia

Article Abstract:

The identification of de novo nonsense and splice-site mutations in ribosomal protein (RP), RPS24 in 2% of RP S19 gene (RPS19) mutation-negative probands is reported. The results have indicated that Diamond-Blackfan anemia (DBA) is a disorder of ribosome synthesis and that mutation in other RP or associated genes that lead to disrupted ribosomal biogenesis and function might also cause DBA.

Anemia, Erythrocytes, Red blood cells, Ribosomal proteins

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