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ProteomicsA specific matrisome composition drives a regeneration program in peripheral axonal neuropathies
Understanding the multiple mechanisms underlying peripheral nerve regeneration in humans is crucial for developing effective therapies for peripheral axonal neuropathies. Although in vitro and in vivo studies have provided significant insights, human studies exploring the extracellular matrix (ECM) ...
ORGANISM(S): Homo sapiens (Human) 
2026-09-14 | PXD068740 | Pride
Extracellular matrix remodelling Peripheral nerve regeneration Protein modulation. Axonal neuropathy 
ProteomicsIdentification of a homozygous SCO2 variant in two siblings strengthens the concept of this gene being causative for early-onset axonal Charcot-Marie-Tooth neuropathy
The mitochondrial resident SCO2 protein acts as a copper metallochaperone essential for the synthesis and maturation of cytochrome c oxidase subunit II (MT-CO2/COX2). Recessive mutations in the synthesis of cytochrome C oxidase 2 gene SCO2 were reported in several cases with fatal infantile cardioen...
ORGANISM(S): Homo sapiens (Human) 
2024-05-22 | PXD026283 | Pride
Protein sco2 homolog Rare diseases White blood cell proteomics Axonal neuropathy 
GenomicsDNA methylation status of myelinating Schwann cells during development and in diabetic neuropathy [Bisulfite-Seq2]
DNA methylation is a key epigenetic regulator of mammalian embryogenesis and somatic cell differentiation. Using high-resolution genome-scale maps of methylation patterns, we show that the formation of myelin in the peripheral nervous system, proceeds with progressive DNA demethylation, which coinci...
ORGANISM(S): Mus musculus 
2014-01-27 | E-GEOD-51031 | biostudies-arrayexpress
TranscriptomicsExpression data from BM-CD138+, obtained from newly diagnosed Multiple Myeloma patients
A subanalysis of the GIMEMA-MMY-3006 trial was performed to characterize treatment-emergent peripheral neuropathy (PN) in patients randomized to thalidomide-dexamethasone (TD) or bortezomib-TD (VTD) before and after double autologous transplantation (ASCT) for multiple myeloma (MM). 236 patients ran...
ORGANISM(S): Homo sapiens 
2014-12-23 | E-GEOD-58133 | biostudies-arrayexpress
UnknownSevere axonal neuropathy is a late manifestation of SPG11.
Not available
S-EPMC5065903 | biostudies-literature
ProteomicsPhosphosite mapping on Vimentin under hypotonic stress
Giant Axonal Neuropathy (GAN) is a pediatric neurodegenerative disease caused by loss-of-function mutations in the E3 ubiquitin ligase adaptor gigaxonin, which is encoded by the GAN (KLHL16) gene. Gigaxonin regulates the degradation of multiple intermediate filament (IF) proteins, including neurofil...
ORGANISM(S): Homo sapiens (Human) 
2022-10-27 | PXD037452 | Pride
Hypotonic stress Giant axonal neuropathy Filaments Phosphorylation 
UnknownYield of next-generation neuropathy gene panels in axonal neuropathies.
Not available
S-EPMC8340036 | biostudies-literature
UnknownSerum CXCL13 reflects local B-cell mediated inflammatory demyelinating peripheral neuropathy.
Not available
S-EPMC6848485 | biostudies-literature
UnknownSensory neuropathy-causing mutations in ATL3 affect ER-mitochondria contact sites and impair axonal mitochondrial distribution.
Not available
S-EPMC6360276 | biostudies-literature
UnknownGenetic Approaches for the Treatment of Giant Axonal Neuropathy.
Not available
S-EPMC9865904 | biostudies-literature
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