3 results match your criteria: "Helmholtz Zentrum München – German Research Center for Environmental Health[Affiliation]"
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Sci Transl Med
May 2023
Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.
Article Synopsis
- Researchers found 15 new genetic variants in the PSMC3 gene, linked to a specific type of neurodevelopmental delay and intellectual disability in 23 unrelated patients.
- Mouse and fruit fly experiments showed that these variants hindered normal neuron growth and learning abilities.
- The variants were shown to disrupt proteasome function, leading to cellular stress and abnormal immune responses, suggesting a connection between proteasome issues and neurodevelopmental disorders.
Genetic and clinical determinants of abdominal aortic diameter: genome-wide association studies, exome array data and Mendelian randomization study.
Hum Mol Genet
October 2022
Department of Epidemiology and Biostatistics, Imperial College London, London, UK.
Progressive dilation of the infrarenal aortic diameter is a consequence of the ageing process and is considered the main determinant of abdominal aortic aneurysm (AAA). We aimed to investigate the genetic and clinical determinants of abdominal aortic diameter (AAD). We conducted a meta-analysis of genome-wide association studies in 10 cohorts (n = 13 542) imputed to the 1000 Genome Project reference panel including 12 815 subjects in the discovery phase and 727 subjects [Partners Biobank cohort 1 (PBIO)] as replication.
View Article and Find Full Text PDFATPase-deficient mitochondrial inner membrane protein ATAD3A disturbs mitochondrial dynamics in dominant hereditary spastic paraplegia.
Hum Mol Genet
April 2017
Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland.
De novo mutations in ATAD3A (ATPase family AAA-domain containing protein 3A) were recently found to cause a neurological syndrome with developmental delay, hypotonia, spasticity, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy. Using whole-exome sequencing, we identified a dominantly inherited heterozygous variant c.1064G > A (p.
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