Cell Reports, 2013 Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a deficiency in the survival motor neuron (SMN) protein. SMN mediates the assembly of spliceosomal small nuclear ribonucleoproteins (snRNPs) and possibly other RNPs.
Sarah Tisdale +7 more
doaj +1 more source
Motor Learning Mechanism on the Neuron Scale
, 2014 Based on existing data, we wish to put forward a biological model of motor system on the neuron scale. Then we indicate its implications in statistics and learning.
Liu, Peilei, Wang, Ting
core +1 more source
Foxp1 and lhx1 coordinate motor neuron migration with axon trajectory choice by gating Reelin signalling. [PDF]
, 2010 Topographic neuronal maps arise as a consequence of axon trajectory choice correlated with the localisation of neuronal soma, but the identity of the pathways coordinating these processes is unknown.
Kania, Artur +8 more
core +4 more sources
ALS-associated mutant FUS induces selective motor neuron degeneration through toxic gain of function
Nature Communications, 2016 The mechanism by which FUS mutations cause familial ALS remains unclear. Here, the authors use mouse transgenic models to show that a toxic gain-of-function underlies motor neuron degeneration, and that the toxicity of mutant FUS does not depend on a ...
Aarti Sharma +9 more
doaj +1 more source
Inter-spikes-intervals exponential and gamma distributions study of neuron firing rate for SVITE motor control model on FPGA [PDF]
, 2015 This paper presents a statistical study on a neuro-inspired spike-based implementation of the Vector-Integration-To-End-Point motor controller (SVITE) and compares its deterministic neuron-model stream of spikes with a proposed modification that converts
Linares Barranco, Alejandro +2 more
core +1 more source
Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy [PDF]
, 2017 Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein.
A Brockington +99 more
core +5 more sources
Neural reactivations during sleep determine network credit assignment. [PDF]
, 2017 A fundamental goal of motor learning is to establish the neural patterns that produce a desired behavioral outcome. It remains unclear how and when the nervous system solves this 'credit assignment' problem.
Bodepudi, Anitha +4 more
core +3 more sources
Organoids in pediatric cancer research
FEBS Letters, EarlyView.Organoid technology has revolutionized cancer research, yet its application in pediatric oncology remains limited. Recent advances have enabled the development of pediatric tumor organoids, offering new insights into disease biology, treatment response, and interactions with the tumor microenvironment.
Carla Ríos Arceo, Jarno Drost
wiley +1 more source
Long-term muscle-specific overexpression of DOK7 in mice using AAV9-tMCK-DOK7
Molecular Therapy: Nucleic Acids, 2023 Neuromuscular junction (NMJ) dysfunction underlies several diseases, including congenital myasthenic syndromes (CMSs) and motor neuron disease (MND).
Yu-Ting Huang +8 more
doaj +1 more source
Agrin isoforms and their role in synaptogenesis [PDF]
, 1992 Agrin is thought to mediate the motor neuron-induced aggregation of synaptic proteins on the surface of muscle fibers at neuromuscular junctions. Recent experiments provide direct evidence in support of this hypothesis, reveal the nature of agrin ...
Escher, Gérard +6 more
core +1 more source