Article

Heterozygous knockout of Synaptotagmin13 phenocopies ALS features and TP53 activation in human motor neurons

2024-05-24

Abstract excerpt

<title>Abstract</title> <p>Spinal motor neurons (MNs) represent a highly vulnerable cellular population, which is affected in fatal neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). In this study, we show that the heterozygous loss of SYT13 is sufficient to trigger a neurodegenerative phenotype resembling those observed in ALS and SMA. SYT13+/- hiPSC-derived...

Topics

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

Identifiers and source

Literature Corpus work: c14127f8-76e8-5807-9ba5-3e9e4ad47f83
DOI: 10.21203/rs.3.rs-4292625/v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Heterozygous knockout of Synaptotagmin13 phenocopies ALS features and TP53 activation in human motor neuronsDOI 10.21203/rs.3.rs-4292625/v1Read

Heterozygous knockout of Synaptotagmin13 phenocopies ALS features and TP53 activation in human motor neurons.Semantic proximity Read

Synaptotagmin 13 is neuroprotective across motor neuron diseasesSemantic proximity Read

LCM-seq reveals unique transcriptional adaptation mechanisms of resistant neurons and identifies protective pathways in spinal muscular atrophy.Semantic proximity Read

LCM-seq reveals unique transcriptional adaption mechanisms of resistant neurons in spinal muscular atrophySemantic proximity Read

A p53-ΔNp73 signaling axis drives selective motor neuron degeneration in spinal muscular atrophySemantic proximity Read

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophySemantic proximity Read

Neuromuscular dysfunction in patient-derived FUS <sup>R244RR</sup> -ALS iPSC model via axonal downregulation of neuromuscular junction proteinsSemantic proximity Read

Loss of <i>TP73</i> function contributes to amyotrophic lateral sclerosis pathogenesisSemantic proximity Read

Massive transcriptome sequencing of human spinal cord tissues provides new insights into motor neuron degeneration in ALSSemantic proximity Read

Multisystem proteinopathy: Where myopathy and motor neuron disease converge.Semantic proximity Read

Stathmins and Motor Neuron Diseases: Pathophysiology and Therapeutic TargetsSemantic proximity Read

Integrated transcriptome landscape of ALS identifies genome instability linked to TDP-43 pathology.Semantic proximity Read