Author

R. Maroofian

2 papers indexed here

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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. · Genetics in Medicine · 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. · The FEBS Journal · 0 citations