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Familial dysautonomia (FD) results from mutation in IKBKAP/ELP1, a gene encoding the scaffolding protein for the Elongator complex. This highly conserved complex is required for the methoxy-carbonyl-methyl (mcm5) modification of uridines located in the wobble position of tRNA molecules (U34). In F...
ORGANISM(S): Mus Musculus (ncbitaxon:10090) 
Spinal Muscular Atrophy (SMA) is typically characterized as a motor neuron disease, but extra-neuronal phenotypes are present in almost every organ in severely affected patients and animal models. Extra-neuronal phenotypes were previously underappreciated as patients with severe SMA phenotypes usual...
ORGANISM(S): Homo Sapiens (human) 
Chemotherapy-induced peripheral neuropathy (CIPN) is a major dose-limiting side effect of cancer treatment, yet the lack of predictive human models has hindered therapeutic progress. We have established a scalable model of paclitaxel-induced axon degeneration and neurotoxicity in iPSC-derived sensor...
ORGANISM(S): Homo sapiens (Human) 
2026-04-03 | PXD074954 | Pride
The goal of the study was to profile the effects of KRAS inhibition in peripheral neuron cells. Phosphoproteomics was performed to profile global changes in phosphorylation after treatment with BI-2865.
ORGANISM(S): Homo sapiens (Human) 
2025-06-17 | PXD061467 | Pride
CLP1 was the first mammalian RNA kinase to be identified. However, determining its in vivo function has been elusive. Here we generated kinase-dead Clp1 (Clp1K/K) mice that show a progressive loss of spinal motor neurons associated with axonal degeneration in the peripheral nerves and denervation of...
ORGANISM(S): Mus musculus 
The goal of this study was to analyze global gene expression in specific populations of somatosensory neurons in the periphery, including major, non-overlapping populations that include nociceptors, pruriceptors, and prorioceptors. The mammalian somatosensory nervous system encodes the perception of...
ORGANISM(S): Mus musculus 

Beyond motor neuron degeneration, homozygous mutations in the survival motor neuron 1 (SMN1) gene cause multiorgan and metabolic defects in patients with spinal muscular atrophy (SMA). However, the precise biochemical features of these alterations and the age of onset in the brain and peripheral ...

2023-11-27 | MTBLS8784 | MetaboLights
Human neurons engineered from induced pluripotent stem cells (iPSCs) through Neurogenin 2 (Ngn2) overexpression are widely used to study neuronal differentiation mechanisms and to model neurological diseases. However, the differentiation paths and heterogeneity of emerged neurons have not been fully...
ORGANISM(S): Homo sapiens 
Transcriptional reprogramming of distinct peripheral sensory neuron subtypes after axonal injury
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