The role of survival motor neuron protein (SMN) in protein homeostasis

H Chaytow, YT Huang, TH Gillingwater… - Cellular and Molecular …, 2018 - Springer
Ever since loss of survival motor neuron (SMN) protein was identified as the direct cause of
the childhood inherited neurodegenerative disorder spinal muscular atrophy, significant …

SUMO: glue or solvent for phase-separated ribonucleoprotein complexes and molecular condensates?

J Keiten-Schmitz, L Röder, E Hornstein… - Frontiers in molecular …, 2021 - frontiersin.org
Spatial organization of cellular processes in membranous or membrane-less organelles
(MLOs, alias molecular condensates) is a key concept for compartmentalizing biochemical …

Global non-covalent SUMO interaction networks reveal SUMO-dependent stabilization of the non-homologous end joining complex

R González-Prieto, K Eifler-Olivi, LA Claessens… - Cell reports, 2021 - cell.com
In contrast to our extensive knowledge on covalent small ubiquitin-like modifier (SUMO)
target proteins, we are limited in our understanding of non-covalent SUMO-binding proteins …

[HTML][HTML] VRK1 variants at the cross road of Cajal body neuropathogenic mechanisms in distal neuropathies and motor neuron diseases

PA Lazo, P Morejón-García - Neurobiology of Disease, 2023 - Elsevier
Distal hereditary neuropathies and neuro motor diseases are complex neurological
phenotypes associated with pathogenic variants in a large number of genes, but in some the …

Paradoxes of cellular SUMOylation regulation: a role of biomolecular condensates?

X Cheng, W Yang, W Lin, F Mei, G Schulte - Pharmacological Reviews, 2023 - Elsevier
Protein SUMOylation is a major post-translational modification essential for maintaining
cellular homeostasis. SUMOylation has long been associated with stress responses as a …

Cajal bodies in neurons

M Lafarga, O Tapia, AM Romero, MT Berciano - RNA biology, 2017 - Taylor & Francis
Cajal is commonly regarded as the father of modern neuroscience in recognition of his
fundamental work on the structure of the nervous system. But Cajal also made seminal …

On the road with WRAP53β: guardian of Cajal bodies and genome integrity

S Henriksson, M Farnebo - Frontiers in genetics, 2015 - frontiersin.org
The WRAP53 gene encodes both an antisense transcript (WRAP53α) that stabilizes the
tumor suppressor p53 and a protein (WRAP53β) involved in maintenance of Cajal bodies …

How do SMA-linked mutations of SMN1 lead to structural/functional deficiency of the SMA protein?

W Li - PLoS One, 2017 - journals.plos.org
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disease with
dysfunctional α-motor neurons in the anterior horn of the spinal cord. SMA is caused by loss …

Dissecting the role of SMN multimerization in its dissociation from the Cajal body using harmine as a tool compound

S Ohazama, A Fujimoto, D Konda… - Journal of Cell …, 2024 - journals.biologists.com
Survival motor neuron protein (SMN), which is linked to spinal muscular atrophy, is a key
component of the Gemin complex, which is essential for the assembly of small nuclear RNA …

Molecular factors involved in spinal muscular atrophy pathways as possible disease-modifying candidates

MA Maretina, GY Zheleznyakova, KM Lanko… - Current …, 2018 - ingentaconnect.com
Spinal Muscular Atrophy (SMA) is a neuromuscular disorder caused by mutations in the
SMN1 gene. Being a monogenic disease, it is characterized by high clinical heterogeneity …