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 …

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 …

Smn, the spinal muscular atrophy–determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons

W Rossoll, S Jablonka, C Andreassi… - The Journal of cell …, 2003 - rupress.org
Spinal muscular atrophy (SMA), a common autosomal recessive form of motoneuron
disease in infants and young adults, is caused by mutations in the survival motoneuron 1 …

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 …

SMNΔ7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full …

TT Le, LT Pham, MER Butchbach… - Human molecular …, 2005 - academic.oup.com
Spinal muscular atrophy (SMA) is an autosomal recessive disorder in humans which results
in the loss of motor neurons. It is caused by reduced levels of the survival motor neuron …

Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding

ML McWhorter, UR Monani, AHM Burghes… - The Journal of cell …, 2003 - rupress.org
Spinal muscular atrophy (SMA) is an autosomal recessive disorder characterized by a loss
of α motoneurons in the spinal cord. SMA is caused by low levels of the ubiquitously …

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) …

Spinal muscular atrophy: the role of SMN in axonal mRNA regulation

C Fallini, GJ Bassell, W Rossoll - Brain research, 2012 - Elsevier
Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by homozygous
mutations or deletions in the survival of motor neuron (SMN1) gene, encoding the …

Valproic acid increases SMN levels in spinal muscular atrophy patient cells

CJ Sumner, TN Huynh, JA Markowitz… - Annals of Neurology …, 2003 - Wiley Online Library
Spinal muscular atrophy (SMA) is an inherited motor neuron disease caused by mutation of
the telomeric copy of the survival motor neuron gene (SMN1). Although a centromeric copy …