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UnknownReport on a Case with Moreno-Nishimura-Schmidt Overgrowth Syndrome: A Clinically Delineated Disease Yet of an Unknown Origin!
Not available
S-EPMC10267562 | biostudies-literature
UnknownA new mouse model of Charcot-Marie-Tooth 2J neuropathy replicates human axonopathy and suggest alteration in axo-glia communication.
Not available
S-EPMC9707796 | biostudies-literature
UnknownAAV1.NT-3 gene therapy for X-linked Charcot-Marie-Tooth neuropathy type 1.
Not available
S-EPMC9013664 | biostudies-literature
ProteomicsRescued ontogenesis in human DMD mini-muscles driven by tricyclo-DNA exon skipping-mediated dystrophin restoration
Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive disorder caused by loss of function mutations in the dystrophin gene. There is currently no cure for DMD although various promising approaches are progressing through human clinical trials. Among them, exon-skipping therapy using antis...
ORGANISM(S): Homo sapiens (Human) 
2026-09-14 | PXD060394 | Pride
Dystophin 3d-cell culture Dmd 
ProteomicsCross-linking mass spectrometry uncovers protein interactions and functional assemblies in synaptic vesicle membranes
Synaptic vesicles are storage organelles for neurotransmitters in the pre-synaptic cytosol. When an action potential arrives at the pre-synaptic terminal, they fuse with the pre-synaptic membrane and neurotransmitters are released. In this project, we set out to study the protein interactions formed...
ORGANISM(S): Rattus norvegicus (Rat) 
2020-12-09 | PXD020859 | Pride
Chemical cross-linking Mass spectrometry Protein networks Synaptic vesicles Synaptophysin Synaptobrevin-2 
ProteomicsEvaluation of NHS-Acetate and DEPC labelling for determination of solvent accessible amino acid residues in protein complexes
The structural analysis of proteins and protein complexes is key for understanding their function and regulation. In order to gain structural information, we examined protein surface labelling using NHS-Acetate and DEPC following an MS-based workflow. Using two model proteins we characterise the obt...
ORGANISM(S): Oryctolagus cuniculus cuniculus Saccharomyces cerevisiae (Baker's yeast) 
2020-05-05 | PXD015940 | Pride
Diethylpyrocarbonate N-hydroxysuccinimidyl acetate Mass spectrometry Neutral loss Chemical labelling Solvent accessible surface area Labelling percentage 
ProteomicsQuantitative proteomics and in-cell cross-linking reveal cellular reorganisation during early neuronal differentiation of SH-SY5Y cells
The proteomes of undifferentiated and differentiated SH-SY5Y cells are characterised and compared. For this, neuronal differentiation using retinoic acid (RA) or a combination of RA and phorbol-12-myristat-13-acetate (RA/PMA) was explored. An MS-based label-free quantification approach is applied to...
ORGANISM(S): Homo sapiens (Human) 
2022-04-08 | PXD031054 | Pride
Proteomics Chemical cross-linking Mass spectrometry Protein networks Actin Sh-sy5y 
ProteomicsViral immune evasions differentially impact cell surface presentation of MHC I allomorphs already at the peptide-loading complex
The transporter associated with antigen processing (TAP) translocates peptides from the cytosol into the endoplasmic reticulum (ER) where they are loaded onto major histocompatibility class I (MHC I) molecules. Stable peptide-MHC I complexes travel to the cell surface and present their antigenic car...
ORGANISM(S): Homo sapiens (Human) 
2022-02-17 | PXD027408 | Pride
Er quality control Major histocompatibility complex class i Mass spectrometry Mhc i biogenesis Viral immune evasion Peptide-loading complex 
UnknownGeological Evidence of Planet-Wide Groundwater System on Mars.
Not available
S-EPMC6472477 | biostudies-literature
UnknownMeasles-mumps-rubella-vaccination at 6 months of age induces measles-specific T cell responses: a randomized controlled trial.
Not available
S-EPMC11955646 | biostudies-literature
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