| People | Locations | Statistics |
|---|---|---|
| Naji, M. |
| |
| Motta, Antonella |
| |
| Aletan, Dirar |
| |
| Mohamed, Tarek |
| |
| Ertürk, Emre |
| |
| Taccardi, Nicola |
| |
| Kononenko, Denys |
| |
| Petrov, R. H. | Madrid |
|
| Alshaaer, Mazen | Brussels |
|
| Bih, L. |
| |
| Casati, R. |
| |
| Muller, Hermance |
| |
| Kočí, Jan | Prague |
|
| Šuljagić, Marija |
| |
| Kalteremidou, Kalliopi-Artemi | Brussels |
|
| Azam, Siraj |
| |
| Ospanova, Alyiya |
| |
| Blanpain, Bart |
| |
| Ali, M. A. |
| |
| Popa, V. |
| |
| Rančić, M. |
| |
| Ollier, Nadège |
| |
| Azevedo, Nuno Monteiro |
| |
| Landes, Michael |
| |
| Rignanese, Gian-Marco |
|
Bauer, Peter
in Cooperation with on an Cooperation-Score of 37%
Topics
Publications (8/8 displayed)
- 2023Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental diseasecitations
- 2021Genauigkeitsuntersuchung eines VR-Systems zur 3D-Koordinatenbestimmung
- 2013Tuning the magnetic properties of metal oxide nanocrystal heterostructures by cation exchangecitations
- 2012Ion beam irradiation of cuprate high-temperature superconductors: Systematic modification of the electrical properties and fabrication of nanopatternscitations
- 2010Surface planarization and masked ion-beam structuring of YBa2Cu3O7 thin filmscitations
- 2010Modification and nano-patterning of high-Tc superconducting thin films by masked ion beam irradiationcitations
- 2009Masked ion beam irradiation of high-temperature superconductors: patterning of nano-size regions with high point-defect densitycitations
- 2007Cytotoxicity of resin composites as a function of interface areacitations
Places of action
| Organizations | Location | People |
|---|
article
Biallelic NUDT2 variants defective in mRNA decapping cause a neurodevelopmental disease
Abstract
<jats:title>Abstract</jats:title><jats:p>Dysfunctional RNA processing caused by genetic defects in RNA processing enzymes has a profound impact on the nervous system, resulting in neurodevelopmental conditions. We characterized a recessive neurological disorder in 18 children and young adults from 10 independent families typified by intellectual disability, motor developmental delay, and gait disturbance. In some patients peripheral neuropathy, corpus callosum abnormalities, and progressive basal ganglia deposits were present. The disorder is associated with rare variants in NUDT2, a mRNA decapping and Ap4A hydrolysing enzyme, including novel missense and in-frame deletion variants. We show that these NUDT2 variants lead to a marked loss of enzymatic activity, strongly implicating loss of NUDT2 function as the cause of the disorder. NUDT2-deficient patient fibroblasts exhibit a markedly altered transcriptome, accompanied by changes in mRNA half-life and stability. Amongst the most up-regulated mRNAs in NUDT2-deficient cells, we identified host response and interferon-responsive genes. Importantly, add-back experiments using an Ap4A hydrolase defective in mRNA decapping highlighted loss of NUDT2 decapping as the activity implicated in altered mRNA homeostasis. Our results confirm that reduction or loss of NUDT2 hydrolase activity is associated with a neurological disease, highlighting the importance of a physiologically balanced mRNA processing machinery for neuronal development and homeostasis.</jats:p>