Identification of CLN6 as a molecular entity of endoplasmic reticulum-driven anti-aggregate activity.
Sign Up to like & getrecommendations! Published in 2017 at "Biochemical and biophysical research communications"
DOI: 10.1016/j.bbrc.2017.05.002
Abstract: αB-crystallin (αBC) is a small heat shock protein. Mutations in the αBC gene are linked to α-crystallinopathy, a hereditary myopathy histologically characterized by intracellular accumulation of protein aggregates. The disease-causing R120G αBC mutant, harboring an… read more here.
Keywords: cln6; anti aggregate; r120g mutant; aggregate activity ... See more keywords
Modeling CLN6 with IPSC-derived neural cells
Sign Up to like & getrecommendations! Published in 2019 at "Molecular Genetics and Metabolism"
DOI: 10.1016/j.ymgme.2018.12.299
Abstract: Neuronal ceroid lipofuscionosis type 6 (CLN6) is a neurodegenerative disease associated with dementia, seizures, and retinopathy. The disorder is due to mutations in the CLN6 gene encoding a resident ER transmembrane protein of unknown function. Similar to… read more here.
Keywords: ipsc derived; cln6; neural cells; subc puncta ... See more keywords