Publications by authors named "Hannes Huber"
Article Synopsis
- RNA helicases are important for maintaining RNA levels in cells and are linked to diseases, such as SMARD1, which is associated with the IGHMBP2 protein.*
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- IGHMBP2 helps in translating specific mRNAs by preventing ribosome stalling, which is crucial for synthesizing proteins involved in the THO complex, important for mRNA production and export.*
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- Problems with IGHMBP2 regulation can disrupt cellular processes and may play a role in the development of SMARD1, highlighting potential targets for new treatments.*
Article Synopsis
- The study investigated the clinical characteristics and genetic variations associated with the DHX30-related neurodevelopmental disorder, especially focusing on new missense variants in the gene.
- Researchers collected clinical and genetic data from affected individuals via social media, collaboration networks, and analyzed the effects of these variants on cellular functions and development using various experimental models, including zebrafish.
- Findings revealed that individuals with missense variants presented with severe developmental issues, while those with variants leading to milder haploinsufficiency showed less severe symptoms, suggesting the presence of two distinct clinical subtypes based on the type and location of the genetic variants.
