A day in the life of the spliceosome

AG Matera, Z Wang - Nature reviews Molecular cell biology, 2014 - nature.com
One of the most amazing findings in molecular biology was the discovery that eukaryotic
genes are discontinuous, with coding DNA being interrupted by stretches of non-coding …

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 …

Spinal muscular atrophy: going beyond the motor neuron

G Hamilton, TH Gillingwater - Trends in molecular medicine, 2013 - cell.com
Spinal muscular atrophy (SMA) is a neuromuscular disease caused by abnormally low
cellular levels of the ubiquitous protein SMN. Traditionally, reduced levels of SMN were …

Advances in therapy for spinal muscular atrophy: promises and challenges

EJN Groen, K Talbot, TH Gillingwater - Nature Reviews Neurology, 2018 - nature.com
Spinal muscular atrophy (SMA) is a devastating motor neuron disease that predominantly
affects children and represents the most common cause of hereditary infant mortality. The …

[HTML][HTML] An SMN-dependent U12 splicing event essential for motor circuit function

F Lotti, WL Imlach, L Saieva, ES Beck, LT Hao, DK Li… - Cell, 2012 - cell.com
Spinal muscular atrophy (SMA) is a motor neuron disease caused by deficiency of the
ubiquitous survival motor neuron (SMN) protein. To define the mechanisms of selective …

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse

PN Porensky, C Mitrpant, VL McGovern… - Human molecular …, 2012 - academic.oup.com
Spinal muscular atrophy (SMA) is an autosomal-recessive disorder characterized by α-motor
neuron loss in the spinal cord anterior horn. SMA results from deletion or mutation of the …

[HTML][HTML] The genetics of spinal muscular atrophy: progress and challenges

MA Farrar, MC Kiernan - Neurotherapeutics, 2015 - Elsevier
Spinal muscular atrophies (SMAs) are a group of inherited disorders characterized by motor
neuron loss in the spinal cord and lower brainstem, muscle weakness, and atrophy. The …

SMN control of RNP assembly: from post-transcriptional gene regulation to motor neuron disease

DK Li, S Tisdale, F Lotti, L Pellizzoni - Seminars in cell & developmental …, 2014 - Elsevier
At the post-transcriptional level, expression of protein-coding genes is controlled by a series
of RNA regulatory events including nuclear processing of primary transcripts, transport of …

Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy

KKY Ling, RM Gibbs, Z Feng… - Human molecular …, 2012 - academic.oup.com
Spinal muscular atrophy (SMA), a motoneuron disease caused by a deficiency of the
survival of motor neuron (SMN) protein, is characterized by motoneuron loss and muscle …

Regulation of alternative splicing by the core spliceosomal machinery

AL Saltzman, Q Pan, BJ Blencowe - Genes & development, 2011 - genesdev.cshlp.org
Alternative splicing (AS) plays a major role in the generation of proteomic diversity and in
gene regulation. However, the role of the basal splicing machinery in regulating AS remains …