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ProteomicsMolecular effects of Vitamin C treatment in MSC80 cells, a suitable Schwann cell model
Schwann cells (SCs) are not only decisive to produce the axon-wrapping myelin sheath thus ensuring a proper nerve conduction but also exhibit with trophic function and can direct repair mechanisms of the peripheral nervous system. Consequently, suitable and well-characterized SC in vitro models are ...
ORGANISM(S): Mus musculus (Mouse) 
2018-08-13 | PXD006910 | Pride
Protein cataloguing Msc80 Tmx1 Schwann cells 
ProteomicsMultifocal demyelinating motor neuropathy associated with a de novo PTEN mutation
Phosphatase and tensin homolog (PTEN) is a tumour suppressor gene associated with inherited tumour susceptibility conditions, macrocephaly, autism, ataxia, tremor and epilepsy. Functional implications of this protein have been investigated in Parkinson’s and Alzheimer’s diseases. We describe the fir...
ORGANISM(S): Homo sapiens (Human) 
2018-10-22 | PXD008014 | Pride
Pten Demyelinating motor neuropathy 
UnknownNovel insights into PORCN mutations, associated phenotypes and pathophysiological aspects.
Not available
S-EPMC8802438 | biostudies-literature
ProteomicsProtein signature of human skin fibroblasts indicates the suitability to serve as in vitro model for neuromuscular diseases (AAAS-Data)
The elucidation of pathomechanisms leading to the manifestation of neuromuscular diseases (NMDs) represents an important step toward the understanding of the genesis of the respective disease and might help to define starting points for (new) therapeutic intervention concepts. However, these “discov...
ORGANISM(S): Homo sapiens (Human) 
2020-11-10 | PXD019201 | Pride
Allgrove syndrome Aladin Aaas Myopodin/synaptopodin-2 Triple-a syndrome Ataxin-2 
ProteomicsProtein signature of human skin fibroblasts indicates the suitability to serve as in vitro model for neuromuscular diseases (Library Data)
The elucidation of pathomechanisms leading to the manifestation of neuromuscular diseases (NMDs) represents an important step toward the understanding of the genesis of the respective disease and might help to define starting points for (new) therapeutic intervention concepts. However, these “discov...
ORGANISM(S): Homo sapiens (Human) 
2020-11-10 | PXD019060 | Pride
Allgrove syndrome Aladin Aaas Myopodin/synaptopodin-2 Triple-a syndrome Ataxin-2 
ProteomicsMuscular and molecular pathology associated with SPATA5-deficiency in a child with EHLMRS
Mutations in the SPATA5-gene are associated with the Epilepsy, Hearing Loss and Mental Retardation Syndrome (EHLMRS). While SPATA5 is ubiquitously expressed and is attributed a role in mitochondrial morphogenesis during spermatogenesis, there is only limited knowledge on the associated muscular and ...
ORGANISM(S): Homo sapiens (Human) 
2022-02-17 | PXD026182 | Pride
Ehlmrs  spata5  mitochondrial disorder  muscle proteomics  myopathology 
ProteomicsHealthy aging of skeletal muscle: Insights from a combined morphological and multiomic study
Aging impacts on the plasticity and biochemistry of skeletal muscle. For a deeper understanding of skeletal muscle function in aging and sarcopenia, defined as age related muscle decline, the identification of molecular signatures regulating muscle function under physiological conditions is importan...
ORGANISM(S): Homo sapiens (Human) 
2025-05-06 | PXD049424 | Pride
Bioinformatics in omics Mitochondria in aging Sarcopenia Muscle proteomics Muscle transcriptomics 
ProteomicsNMD-GPS_NME-058_Quadriceps_triplicate_DIA
Untargeted LC-MSMS proteomics from muscle biopsy of index patient NME-058 of the NMD-GPS cohort.
ORGANISM(S): Homo sapiens (Human) 
2026-06-15 | PXD065567 | Pride
Human Lc-msms Muscle Dia Nmd-gps 
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 
ProteomicsGiant Axonal Neuropathy (GAN): Cross-sectional data on phenotypes, genotypes and proteomics signature from a German-Austrian-Swiss cohort
Giant Axon Neuropathy (GAN) is a progressive neurodegenerative disease characterised by involvement of peripheral and central nervous system frequently associated with frizzy hair. The phenotype is caused by bi-allelic variants in the GAN gene, leading to loss of functional gigaxonin proteins.. Thus...
ORGANISM(S): Homo sapiens (Human) 
2025-05-07 | PXD053070 | Pride
White blood cells Gan Proteomics 
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