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Open access Aug 2026

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

Human NHE6 (HsNHE6) is an endosomal Na⁺/H⁺ exchanger essential for maintaining luminal pH and endo-lysosomal trafficking in neurons. HsNHE6 mutations are implicated in devastating neurological syndromes, but mechanistically the transporter remains poorly understood. Here, we present the single-particle cryo-electron mi...

L. P. Feilen, Lara Sach, Emil E. Tranchant et al. · 0 citations
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. · 0 citations

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