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Loss of function of CMPK2 causes mitochondria deficiency and brain calcification

29 Nov 2022

Abstract excerpt

Brain calcification is a critical aging-associated pathology and can cause multifaceted neurological symptoms. Cerebral phosphate homeostasis dysregulation, blood-brain barrier defects, and immune dysregulation have been implicated as major pathological processes in familial brain calcification (FBC). Here, we analyzed two brain calcification families and identified calcification co-segregated biallelic variants...

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PMID: 36443312
DOI: 10.1038/s41421-022-00475-2

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