Publications by authors named "M Moya-Molina"

Alternative splicing (AS) is a crucial mechanism contributing to proteomic diversity, which is highly regulated in tissue- and development-specific patterns. Retinal tissue exhibits one of the highest levels of AS. In particular, photoreceptors have a distinctive AS pattern involving the inclusion of microexons not found in other cell types.

View Article and Find Full Text PDF
Article Synopsis
  • MS is a significant cause of disability in young and middle-aged adults; existing clinical markers are not sensitive or specific enough for diagnosing and monitoring the disease.
  • After neuronal injury in MS, neurofilament light chains (NfL) are released into the cerebrospinal fluid and blood, suggesting they may serve as a useful biomarker for monitoring inflammation and neurodegeneration.
  • A study in Spain showed that blood-based NfL could improve diagnosis and treatment responses in MS, offering a safer and potentially less expensive alternative in clinical practice.
View Article and Find Full Text PDF
Article Synopsis
  • - The spliceosomal protein PRPF8's carboxy-terminus mutation is linked to retinitis pigmentosa-type 13, but its specific role in human splicing and tissue-specificity is not well understood.
  • - Using patient-derived stem cells with a specific PRPF8 mutation, researchers observed retinal cell defects like photoreceptor loss and ciliary issues, highlighting retinal-specific endophenotypes.
  • - Detailed analyses showed that PRPF8 influences spliceosome function, affecting 5'-splice site selection and leading to splicing abnormalities, which could provide insights for future therapeutic strategies for retinal diseases.
View Article and Find Full Text PDF

Molecular information on the early stages of human retinal development remains scarce due to limitations in obtaining early human eye samples. Pluripotent stem cell-derived retinal organoids (ROs) provide an unprecedented opportunity for studying early retinogenesis. Using a combination of single cell RNA-seq and spatial transcriptomics we present for the first-time a single cell spatiotemporal transcriptome of RO development.

View Article and Find Full Text PDF

Polypharmacy has been linked to cognitive decline. However, interventions targeting modifiable risk factors, some of which are targets of the most commonly used drugs, could reduce the prevalence of dementia. Our aim was to determine the drug prescription regimen at baseline, prior to the diagnosis of mild cognitive impairment (MCI), and its possible association with progression to dementia.

View Article and Find Full Text PDF