Spinal muscular atrophy

E Mercuri, CJ Sumner, F Muntoni, BT Darras… - Nature Reviews …, 2022 - nature.com
Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in
SMN1 (encoding survival motor neuron protein (SMN)). Reduced expression of SMN leads …

DDX20: A Multifunctional Complex Protein

L He, J Yang, Y Hao, X Yang, X Shi, D Zhang, D Zhao… - Molecules, 2023 - mdpi.com
DEAD-box decapping enzyme 20 (DDX20) is a putative RNA-decapping enzyme that can
be identified by the conserved motif Asp–Glu–Ala–Asp (DEAD). Cellular processes involve …

The SMN complex at the crossroad between RNA metabolism and neurodegeneration

I Faravelli, GM Riboldi, P Rinchetti, F Lotti - International Journal of …, 2023 - mdpi.com
In the cell, RNA exists and functions in a complex with RNA binding proteins (RBPs) that
regulate each step of the RNA life cycle from transcription to degradation. Central to this …

PPM1G and its diagnostic, prognostic and therapeutic potential in HCC

X Zhang, H Wang, Y Yuan… - International …, 2024 - spandidos-publications.com
Global statistics indicate that hepatocellular carcinoma (HCC) is the sixth most common
cancer and the third leading cause of cancer-related death. Protein phosphatase …

The phospho-landscape of the survival of motoneuron protein (SMN) protein: relevance for spinal muscular atrophy (SMA)

NT Detering, T Schüning, N Hensel, P Claus - Cellular and Molecular Life …, 2022 - Springer
Spinal muscular atrophy (SMA) is caused by low levels of the survival of motoneuron (SMN)
Protein leading to preferential degeneration of lower motoneurons in the ventral horn of the …

Modeling Spinal Muscular Atrophy in Zebrafish: Current Advances and Future Perspectives

D Gonzalez, C Vásquez-Doorman, A Luna… - International Journal of …, 2024 - mdpi.com
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disease
characterized by degeneration of lower motor neurons (LMNs), causing muscle weakness …

The Cajal body marker protein coilin is SUMOylated and possesses SUMO E3 ligase-like activity

KE Lett, DM McLaurin, SK Tucker… - Frontiers in RNA …, 2023 - frontiersin.org
Cajal bodies (CBs) are subnuclear domains that contribute to the biogenesis of several
different classes of ribonucleoproteins (RNPs), including small nuclear RNPs. Only some …

SMN post-translational modifications in spinal muscular atrophy

GM Riboldi, I Faravelli, P Rinchetti… - Frontiers in Cellular …, 2023 - frontiersin.org
Since its first identification as the gene responsible for spinal muscular atrophy (SMA), the
range of survival motor neuron (SMN) protein functions has increasingly expanded. This …

AlphaFold2 SLiM screen for LC3-LIR interactions in autophagy

JFM Stuke, G Hummer - bioRxiv, 2024 - biorxiv.org
In selective autophagy, cargo recruitment is mediated by LC3-interacting regions (LIRs)/Atg8-
interacting motifs (AIMs) in the cargo or cargo receptor proteins. The binding of these motifs …

Ubiquitination and Ubiquitin-Like Modifications as Mediators of Alternative Pre-mRNA Splicing in Arabidopsis thaliana

W Lan, Y Qiu, Y Xu, Y Liu, Y Miao - Frontiers in Plant Science, 2022 - frontiersin.org
Alternative splicing (AS) is a common post-transcriptional regulatory process in eukaryotes.
AS has an irreplaceable role during plant development and in response to environmental …