A conserved role for the ALS-linked splicing factor SFPQ in repression of pathogenic cryptic last exons
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DOI: 10.1038/s41467-021-22098-z
Abstract: The RNA-binding protein SFPQ plays an important role in neuronal development and has been associated with several neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and Alzheimer’s disease. Here, we report that loss… read more here.
Keywords: conserved role; sfpq; role als; last exons ... See more keywords
ALS/FTD-causing mutation in cyclin F causes the dysregulation of SFPQ.
Sign Up to like & getrecommendations! Published in 2021 at "Human molecular genetics"
DOI: 10.1093/hmg/ddab073
Abstract: Previously, we identified missense mutations in CCNF that are causative of familial and sporadic amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Hallmark features of these diseases include the build-up of insoluble protein aggregates as… read more here.
Keywords: sfpq; causing mutation; ftd causing; cyclin ... See more keywords
Familial ALS-associated SFPQ variants promote the formation of SFPQ cytoplasmic aggregates in primary neurons
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DOI: 10.1098/rsob.220187
Abstract: Splicing factor proline- and glutamine-rich (SFPQ) is a nuclear RNA-binding protein that is involved in a wide range of physiological processes including neuronal development and homeostasis. However, the mislocalization and cytoplasmic aggregation of SFPQ are… read more here.
Keywords: familial als; associated sfpq; sfpq cytoplasmic; sfpq ... See more keywords
Molecular Modelling of NONO and SFPQ Dimerization Process and RNA Recognition Mechanism
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DOI: 10.3390/ijms23147626
Abstract: NONO and SFPQ are involved in multiple nuclear processes (e.g., pre-mRNA splicing, DNA repair, and transcriptional regulation). These proteins, along with NEAT1, enable paraspeckle formation, thus promoting multiple myeloma cell survival. In this paper, we… read more here.
Keywords: nono sfpq; process; sfpq; rna recognition ... See more keywords