Autophagic myopathies / myofibrillar myopathies / distal myopathies / pompe disease

The elucidation of pathomechanisms leading to the manifestation of neuromuscular diseases represents an important step toward the molecular understanding of the respective disease and might help to define starting points for therapeutic intervention concepts. Very often these studies are limited by the availability of human biomaterial especially regarding the fact that nowadays muscle and nerve biopsies become less common in the diagnostic work-up. To systematically analyse if fibroblasts might serve as a valuable source of biomaterial toward functional studies of neuromuscular diseases, utilizing liquid chromatography coupled to tandem mass spectrometry (data independent acquisition (DIA) approach) we generated a proteomics-based protein library and performed in silico analyses.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research