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Author

R. Maroofian

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4 papers indexed here

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Sep 2026

Expanding the clinical and genetic spectrum of biallelic MYO18B pathogenic variants in congenital myopathy.

MYO18B is an unconventional class XVII myosin that is predominantly expressed in muscle and heart tissue. Recessive pathogenic MYO18B variants cause a rare myopathy associated with Klippel-Feil syndrome (KFS), facial dysmorphism, short stature and less frequently cardiomyopathy. Reported neuromuscular manifestations we...

I. Zaharieva, S. Donkervoort, Cheryl Longman et al. · 0 citations
#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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