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ProteomicsPURA Syndrome as a Congenital Myasthenic Disorder: Evidence from Muscle Morphology, Proteomics, and Blood Biomarkers
Dominant PURA variants cause a neurodevelopmental disorder with hypotonia, cognitive impairment, and variable neuromuscular symptoms. Clinical response to pyridostigmine suggests neuromuscular junction (NMJ) involvement, but NMJ architecture, molecular mechanisms, and minimally invasive biomarkers r...
ORGANISM(S): Homo sapiens (Human) 
2026-02-02 | PXD067750 | Pride
Muscle proteomics Thrombospondin-4 (tsp4) Target of nesh-sh3 (tarsh) Congenital myasthenic syndrome (cms) Extracellular vesicles in neuromuscular diseases Periostin (postn) 
UnknownFull-Length SMN Transcript in Extracellular Vesicles as Biomarker in Individuals with Spinal Muscular Atrophy Type 2 Treated with Nusinersen.
Not available
S-EPMC10357204 | biostudies-literature
ProteomicsExtracellular vesicle-derived miRNAs improve stem cell-based therapeutic approaches in muscle wasting conditions.
Skeletal muscle holds an intrinsic capability of growth and regeneration both in physiological conditions and in case of injury. Chronic muscle illnesses, generally caused by genetic and acquired factors, lead to deconditioning of the skeletal muscle structure and function, and are associated with a...
ORGANISM(S): Mus musculus (Mouse) 
2022-11-09 | PXD035446 | Pride
Aging Mirna Muscular dystrophy Skeletal muscle Hypertrophy Extracellular vesicle 
UnknownExtracellular vesicle-derived miRNAs improve stem cell-based therapeutic approaches in muscle wasting conditions.
Not available
S-EPMC9702803 | biostudies-literature
UnknownExtracellular Vesicles Derived from Mesenchymal Stromal Cells Delivered during Hypothermic Oxygenated Machine Perfusion Repair Ischemic/Reperfusion Damage of Kidneys from Extended Criteria Donors.
Not available
S-EPMC8945029 | biostudies-literature
UnknownBotulinum neurotoxin A modulates the axonal release of pathological tau in hippocampal neurons.
Not available
S-EPMC10636589 | biostudies-literature
UnknownPlasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.
Not available
S-EPMC11186765 | biostudies-literature
UnknownMuscle-derived miR-126 regulates TDP-43 axonal local synthesis and NMJ integrity in ALS models.
Not available
S-EPMC12586178 | biostudies-literature
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