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Keywords: Receptor expression-enhancing protein 1Close
Journal: Biology Open
Biol Open (2020) 9 (9): bio054296.
Published: 29 September 2020
... in HSPs. Mutations in receptor expression-enhancing protein 1 (REEP1) are well-recognized and relatively common causes of autosomal dominant HSPs. REEP1 modifies the endoplasmic reticulum (ER) shape, and is implicated in the ER stress response. Defects in the ER stress response seem to be crucial...
Includes: Supplementary data