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pro vyhledávání: '"Yuri Hiraki"'
Publikováno v:
Biochemical and Biophysical Research Communications. 525:883-888
CLN6, spanning the endoplasmic reticulum transmembrane, is a protein of unknown function. Mutations in the CLN6 gene are linked to an autosomal recessively inherited disorder termed CLN6 disease, classified as a form of the neuronal ceroid lipofuscin
Identification of CLN6 as a molecular entity of endoplasmic reticulum-driven anti-aggregate activity
Publikováno v:
Biochemical and Biophysical Research Communications. 487:917-922
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