Article

SMN deficiency induces an early non-atrophic myopathy with alterations in the contractile and excitatory coupling machinery of skeletal myofibers in the SMNΔ7 mouse model of spinal muscular atrophy

2024-09-15

Abstract excerpt

<h4>ABSTRACT</h4> Spinal muscular atrophy (SMA) is caused by a deficiency of the ubiquitously expressed survival motor neuron (SMN) protein. The main pathological hallmark of SMA is the degeneration of lower motor neurons (MNs) with subsequent denervation and atrophy of skeletal muscle. However, increasing evidence indicates that low SMN levels not only are detrimental to the central nervous system but also direc...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: fcbd1779-2570-55ba-96f5-3a1290c560c7
DOI: 10.1101/2024.09.11.612470

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

SMN deficiency induces an early non-atrophic myopathy with alterations in the contractile and excitatory coupling machinery of skeletal myofibers in the SMNΔ7 mouse model of spinal muscular atrophyDOI 10.1101/2024.09.11.612470Read

At the "junction" of spinal muscular atrophy pathogenesis: the role of neuromuscular junction dysfunction in SMA disease progression.Semantic proximity Read

Selective vulnerability of motor neurons and dissociation of pre- and post-synaptic pathology at the neuromuscular junction in mouse models of spinal muscular atrophy.Semantic proximity Read

SMN depletion impairs skeletal muscle formation and maturation in a mouse model of SMASemantic proximity Read

A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology.Semantic proximity Read

Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy.Semantic proximity Read

Disease mechanisms and therapeutic approaches in spinal muscular atrophy.Semantic proximity Read

System-Wide Proteomic Remodeling in Spinal Muscular Atrophy Reveals Tissue-Specific Responses and Partial Rescue by SMN RestorationSemantic proximity Read

Cardiac defects in spinal muscular atrophy and the role of SMN in cardiomyocyte homeostasisSemantic proximity Read

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophySemantic proximity Read

Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron DysfunctionSemantic proximity Read

Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophySemantic proximity Read

Spinal muscular atrophy: from tissue specificity to therapeutic strategiesSemantic proximity Read