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Author

Antrix Jain

2 papers indexed here

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Open access Sep 2026

Pathogenic mutations in ATAD3A cause dysregulation of RagC/D-TFEB axis and disrupt lysosomal homeostasis

We previously discovered that a de novo variant p.R528W in ATAD3A, encoding a mitochondrial membrane-anchored protein, causes a human neurological syndrome. While ATAD3A mutations induce aberrant lysosomal expansion accompanied by undigested material in the lysosomes, how mutant ATAD3A disrupts lysosomal homeostasis an...

Matthew B. McDougal, Abigail Sandoval, M. Kinter et al. · 0 citations
Review Sep 2026

EGR3 deletion attenuates developmental and epileptic encephalopathy in Kcna1-null mice.

Significant upregulations in brain-derived neurotrophic factor (BDNF) and the immediate early transcription factor, early growth response-3 (EGR3), which is necessary for the induction of BDNF following electroconvulsive seizures were revealed.

A. Mazumder, S. Karedia, N. Adhyapak et al. · 0 citations

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