Martha R. C. Bhattacharya

Pathogenic variants in TMEM184B cause a neurodevelopmental syndrome associated with alteration of metabolic signaling

The paper identifies pathogenic TMEM184B variants in six pediatric cases and shows they disrupt metabolic signaling and neural development through functional studies in zebrafish and human cells.

Neuronal endolysosomal acidification relies on interactions between transmembrane protein 184B (TMEM184B) and the vesicular proton pump

This study identifies TMEM184B as a regulator of endolysosomal acidification in neurons by promoting V-ATPase assembly, linking it to neuronal function and disorders.

Transmembrane protein 184B (TMEM184B) promotes expression of synaptic gene networks in the mouse hippocampus

This study shows that TMEM184B loss in mice affects synaptic gene expression and anxiety-related behavior, suggesting a link to neurodevelopmental disorders rather than dementia.

The Drosophila TMEM184B ortholog Tmep ensures proper locomotion by restraining ectopic firing at the neuromuscular junction

This study identifies Tmep as essential for proper locomotion in Drosophila by restraining synaptic excitability at the neuromuscular junction.

TMEM184b is necessary for IL-31 induced itch

This study identifies Tmem184b as essential for IL-31-induced itch by regulating pruriceptive gene expression and Wnt signaling in DRG neurons.