Nuclear speckles: molecular organization, biological function and role in disease

L Galganski, MO Urbanek… - Nucleic acids …, 2017 - academic.oup.com
The nucleoplasm is not homogenous; it consists of many types of nuclear bodies, also
known as nuclear domains or nuclear subcompartments. These self-organizing structures …

Diverse role of survival motor neuron protein

RN Singh, MD Howell, EW Ottesen… - Biochimica et Biophysica …, 2017 - Elsevier
Abstract The multifunctional Survival Motor Neuron (SMN) protein is required for the survival
of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism …

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

AHM Burghes, CE Beattie - Nature Reviews Neuroscience, 2009 - nature.com
Many neurogenetic disorders are caused by the mutation of ubiquitously expressed genes.
One such disorder, spinal muscular atrophy, is caused by loss or mutation of the survival …

Protein intrinsic disorder-based liquid–liquid phase transitions in biological systems: Complex coacervates and membrane-less organelles

VN Uversky - Advances in colloid and interface science, 2017 - Elsevier
It is clear now that eukaryotic cells contain numerous membrane-less organelles, many of
which are formed in response to changes in the cellular environment. Being typically liquid …

RNA 2′-O-methylation (Nm) modification in human diseases

DG Dimitrova, L Teysset, C Carré - Genes, 2019 - mdpi.com
Nm (2′-O-methylation) is one of the most common modifications in the RNA world. It has
the potential to influence the RNA molecules in multiple ways, such as structure, stability …

Cajal bodies: a long history of discovery

M Cioce, AI Lamond - Annu. Rev. Cell Dev. Biol., 2005 - annualreviews.org
This review surveys what is known about the structure and function of the subnuclear
domains called Cajal bodies (CBs). The major focus is on CBs in mammalian cells but we …

The SMN complex, an assemblyosome of ribonucleoproteins

S Paushkin, AK Gubitz, S Massenet… - Current opinion in cell …, 2002 - Elsevier
Spinal muscular atrophy is a common, often lethal, neurodegenerative disease that results
from low levels of, or loss-of-function mutations in, the SMN (survival of motor neurons) …

Cajal bodies: where form meets function

M Machyna, P Heyn… - Wiley Interdisciplinary …, 2013 - Wiley Online Library
The cell nucleus contains dozens of subcompartments that separate biochemical processes
into confined spaces. Cajal bodies (CBs) were discovered more than 100 years ago, but …

Coilin forms the bridge between Cajal bodies and SMN, the spinal muscular atrophy protein

MD Hebert, PW Szymczyk, KB Shpargel… - Genes & …, 2001 - genesdev.cshlp.org
Spinal muscular atrophy (SMA) is a genetic disorder caused by mutations in the human
survival of motor neuron 1 gene, SMN1. SMN protein is part of a large complex that is …

In vivo kinetics of Cajal body components

M Dundr, MD Hebert, TS Karpova, D Stanek… - The Journal of cell …, 2004 - rupress.org
Cajal bodies (CBs) are subnuclear domains implicated in small nuclear ribonucleoprotein
(snRNP) biogenesis. In most cell types, CBs coincide with nuclear gems, which contain the …