Back to search

Article

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

2024-08-17

Abstract excerpt

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative condition characterized by the progressive degeneration of motor neurons, ultimately resulting in death due to respiratory failure. A common feature among ALS cases is the early loss of axons, pointing to defects in axonal transport and translation as initial disease indicators. Here, we established a FUS<R244RR>-ALS hiPSC-derived model that recapitulates...

Topics

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

Identifiers and source

Literature Corpus work
56128522-6ee7-5677-9778-948fce2a7e92
DOI
10.1101/2024.08.17.607965
Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest
Interactive article relationship graphSelect a related publication card to move it into the centre and load its closest explainable connections. Solid lines are source-backed structured connections. Dashed lines are semantic discovery signals and are not scientific evidence.
Neuromuscular dysfunction in patient-derived FUS <sup>R244RR</sup> -ALS iPSC model via axonal downregulation of neuromuscular junction proteinsDOI 10.1101/2024.08.17.607965
Innervation and cargo-specific axonal transport impairments in FUS-ALS mice with gain and loss of functionSemantic proximity
Integrated temporal profiling of iPSCs-derived motor neurons from ALS patients carrying C9orf72, FUS, TARDBP, and SOD1 mutationsSemantic proximity
Establishment of In Vitro FUS-Associated Familial Amyotrophic Lateral Sclerosis Model Using Human Induced Pluripotent Stem CellsSemantic proximity
Proteomics analysis of FUS mutant human motoneurons reveals altered regulation of cytoskeleton and other ALS-linked proteins via 3'UTR binding.Semantic proximity
Single-cell RNA sequencing across isogenic <i>FUS</i> and <i>TARDBP</i> ALS lines reveals a shared early mitochondrial dysfunction unique to motor neuronsSemantic proximity
Single-cell RNA-sequencing reveals early mitochondrial dysfunction unique to motor neurons shared across FUS- and TARDBP-ALSSemantic proximity
Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons.Semantic proximity
Integrated profiling of iPSC-derived motor neurons carrying C9orf72, FUS, TARDBP, or SOD1 mutations.Semantic proximity
HDAC6 inhibition reverses axonal transport defects in motor neurons derived from FUS-ALS patientsSemantic proximity
Amyotrophic Lateral Sclerosis associated FUS mutation shortens mitochondria and induces neurotoxicitySemantic proximity
Autophagy induction mitigates FUS aggregate formation and early synaptic dysfunction at the NMJ in the FUS-ALS modelSemantic proximity
Motor neuron intrinsic and extrinsic mechanisms contribute to the pathogenesis of FUS-associated amyotrophic lateral sclerosis.Semantic proximity
Select a neighboring publication to make it the new centre.