ACS chemical neuroscience
Structural Destabilization of FRMD3 by a FERM Domain Mutation Causes Hypomyelinating Disease via Oligodendrocyte Dysfunction.
Diksha, Abhishek Kumar, Smita Saha, Vishal Gaurav, Yogendra Pratap Mathuria, Akash Ranjan, Shailesh Kumar Gupta, Debasish Kumar Ghosh
Published: 202610.1021/acschemneuro.5c00742
Abstract
Hypomyelinating diseases are a heterogeneous group of neurodevelopmental disorders caused by genetic anomalies that impair myelin formation or maintenance. Here, we investigate a novel homozygous missense variant in FRMD3 (NM_174938.6:c.898T > C; p.C…
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