MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification
Sign Up to like & getrecommendations! Published in 2019 at "Current Neurology and Neuroscience Reports"
DOI: 10.1007/s11910-019-0986-z
Abstract: Purpose of ReviewUntil recently, the gene associated with the recessive form of familial brain calcification (PFBC, Fahr disease) was unknown. MYORG, a gene that causes recessive PFBC was only recently discovered and is currently the… read more here.
Keywords: cause; brain calcification; calcification; myorg ... See more keywords
The primary familial brain calcification-associated protein MYORG is an α-galactosidase with restricted substrate specificity
Sign Up to like & getrecommendations! Published in 2022 at "PLoS Biology"
DOI: 10.1371/journal.pbio.3001764
Abstract: Primary familial brain calcification (PFBC) is characterised by abnormal deposits of calcium phosphate within various regions of the brain that are associated with severe cognitive impairments, psychiatric conditions, and movement disorders. Recent studies in diverse… read more here.
Keywords: myorg; brain calcification; brain; familial brain ... See more keywords