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R. Maroofian

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#protein folding Open access Oct 2026

CNPY3 variants associated with a recessive developmental and epileptic encephalopathy affect inflammasome and TLR function.

The authors' findings reveal separable effects on TLR trafficking, downstream signalling and inflammasome activation, identifying CNPY3 as a key regulator of multiple cellular pathways involved in inflammatory responses and neurodevelopment.

Vera Garloff, M. Grimmel, R. Maroofian et al. · 0 citations
Sep 2026

Bi-allelic GAD2 variants cause a rare developmental encephalopathy with early-onset seizures.

PURPOSE GAD67 and GAD65, encoded by GAD1 and GAD2, respectively, are the two isoforms of glutamic acid decarboxylase (GAD), the enzyme responsible for γ-aminobutyric acid (GABA) synthesis. Pathogenic variants in GAD1 cause a severe developmental and epileptic encephalopathy, whereas GAD2 has not previously been implica...

Mathijs B. van der Lei, Matthias De Wachter, C. D'Incal et al. · 0 citations
Open access Sep 2026

Newly identified human aminoacyl-tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) loss-of-function mutations cause neurodevelopmental defects linked to cell death in a zebrafish model.

Aminoacyl-tRNA synthetase complex interacting multifunctional protein 2 (AIMP2) is a component of the eukaryote-specific multisynthetase complex (MSC), a macromolecular assembly of eight aminoacyl-tRNA synthetases (ARS) and three scaffolding components known as aminoacyl-tRNA synthetase interacting multifunctional prot...

P. Mullen, Shenela Lakhani, Joshua Appelbaum et al. · 0 citations

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