Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived From Structural and Functional Analysis of 14 ClC‐7 Mutants
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Bone and Mineral Research"
DOI: 10.1002/jbmr.4200
Abstract: ClC‐7 is a chloride‐proton antiporter of the CLC protein family. In complex with its accessory protein Ostm‐1, ClC‐7 localizes to lysosomes and to the osteoclasts' ruffled border, where it plays a critical role in acidifying… read more here.
Keywords: pathobiologic mechanisms; clc; clc mutants; osteopetrosis ... See more keywords
Elucidating the pathological mechanisms of neurodegeneration in the lethal serpinopathy FENIB
Sign Up to like & getrecommendations! Published in 2022 at "Neural Regeneration Research"
DOI: 10.4103/1673-5374.332142
Abstract: The term serpinopathies was introduced to describe a family of diseases caused by point mutations in serine protease inhibitors, or serpins. Serpins inhibit their cognate protease by an irreversible suicide mechanism starting with the attack… read more here.
Keywords: lethal serpinopathy; pathological mechanisms; serpin; neurodegeneration lethal ... See more keywords