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PPP1R3F variants impair brain energy metabolism: a novel X-linked cause of neurodevelopmental disorders with translational therapeutic implications

2025-11-11

Abstract excerpt

<title>Abstract</title> <p>Background Neurodevelopmental disorders (NDDs) are highly heterogeneous, and their genetic and metabolic underpinnings remain incompletely understood. PPP1R3F encodes a glycogen-targeting subunit of protein phosphatase 1 with poorly defined functions in the brain. Methods We identified novel PPP1R3F variants in two unrelated male patients with intellectual disability and seizures. To in...

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Literature Corpus work
cc41e299-ad77-59e3-8247-3aeae07a6b32
DOI
10.21203/rs.3.rs-7948090/v1
Open publication

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PPP1R3F variants impair brain energy metabolism: a novel X-linked cause of neurodevelopmental disorders with translational therapeutic implicationsDOI 10.21203/rs.3.rs-7948090/v1
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