Publications by authors named "Sergio R Padilla-Lopez"
Article Synopsis
- Dystonia is the third most common movement disorder and can be caused by injury or genetic mutations, with unclear underlying mechanisms.
- Dysregulation of eIF2α phosphorylation is observed in dystonia, and experiments using a Drosophila model revealed that altering eIF2α-P levels leads to dystonia-like movements and changes in synaptic structure.
- Long-term treatment with ISRIB to restore eIF2α-P levels improved longevity but did not enhance motor function, indicating that disrupted signaling may impact neuronal connectivity and motor circuits in dystonia.
Article Synopsis
- * New cases revealed individuals with microdeletions in AGAP1 exhibited various neurodevelopmental issues, including intellectual disability and autism, along with other physical and developmental challenges.
- * Research in fruit flies suggested that AGAP1 disruption leads to problems in cellular transport processes, increased susceptibility to stress, and highlights the interaction between genetic vulnerabilities and environmental factors in neurodevelopmental disorders.
Unlabelled: is an Arf1 GAP that regulates endolysosomal trafficking. Damaging variants have been linked to cerebral palsy and autism. We report 3 new individuals with microdeletion variants in .
View Article and Find Full Text PDFObjective: To determine whether mutations reported for can cause mixed neurodevelopmental disorders, we performed both functional studies on variant pathogenicity and ZDHHC15 function in animal models.
Methods: We examined protein function of 4 identified variants in ZDHHC15 in a yeast complementation assay and locomotor defects of loss-of-function genotypes in a model.
Results: Although we assessed multiple patient variants, only 1 (p.
Eukaryotic elongation factor 1A (EEF1A), is encoded by two distinct isoforms, EEF1A1 and EEF1A2; whereas EEF1A1 is expressed almost ubiquitously, EEF1A2 expression is limited such that it is only detectable in skeletal muscle, heart, brain and spinal cord. Currently, the role of EEF1A2 in normal cardiac development and function is unclear. There have been several reports linking de novo dominant EEF1A2 mutations to neurological issues in humans.
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