Author

Li Ma

2 papers indexed here

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Open access Aug 2026

Integrative structural analysis of human endosomal NHE6 reveals a lipid-associated gate and disordered C-terminus

The integrative structural model of full-length HsNHE6 provides a framework for understanding HsNHE6-mediated ion exchange and its disruption in Christianson syndrome and shows a kinetic preference for K+ over Na+ transport.

L. P. Feilen, Lara Sach, Emil E. Tranchant et al. · Nature Communications · 1 citation

Open access Jul 2026

4-Phenylbutyrate Rescue in GABRA1 Variants Associated with Developmental Epileptic Encephalopathies: From Cell and Mouse Models to Humans

This study indicates that PBA is a promising treatment option for DEEs associated with GABRA1 mutations and proposes that PBA holds promise as a common medicine for multiple genetic neurologic disorders that share the proteostasis pathology with a broad clinical application in DEEs.

Ziang Song, Kirill Zavalin, W. Shen et al. · Cells · 0 citations