Project description:X-linked myotubular myopathy (XLMTM) is a severe monogenetic disorder of the skeletal muscle. It is caused by loss-of-expression/function mutations in the myotubularin (MTM1) gene. Much of what is known about the disease, as well as the treatment strategies, has been uncovered through experimentation in pre-clinical models, particularly the Mtm1 gene knockout mouse line (Mtm1 KO). Despite this understanding, and the identification of potential therapies, much remains to be understood about XLMTM disease pathomechanisms, and about the normal functions of MTM1 in muscle development. To lay the groundwork for addressing these knowledge gaps, we performed a natural history study of Mtm1 KO mice. This included longitudinal comparative analyses of motor phenotype, transcriptome and proteome profiles, muscle structure and targeted molecular pathways.We identified age-associated changes in gene expression, mitochondrial function, myofiber size and key molecular markers, including DNM2. Importantly, some molecular and histopathologic changes preceded overt phenotypic changes, while others, such as triad structural alternations, occurred coincidentally with the presence of severe weakness. In total, this study provides a comprehensive longitudinal evaluation of the murine XLMTM disease process, and thus provides a critical framework for future investigations.

2022-07-08 | GSE207447 | GEO

Evaluation of NCI-7 Cell Line Panel

Project description:Reference materials are vital to benchmarking the reproducibility of clinical tests and essential for monitoring laboratory performance for clinical proteomics. The reference material utilized for mass spectrometric analysis of the human proteome would ideally contain enough proteins to be suitably representative of the human proteome, as well as exhibit a stable protein composition in different batches of sample regeneration. Previously, The Clinical Proteomic Tumor Analysis Consortium (CPTAC) utilized PDX-derived comparative reference (CompRef) materials for the longitudinal assessment of proteomic performance, however, inherent drawbacks of PDX-derived material has resulted in efforts to identify a new source of CompRef material. In this study, we examined the utility of using a panel of seven cancer cell lines, NCI-7 Cell Line Panel, as a reference material for mass spectrometric analysis of the human proteome. Our results showed that not only is the NCI-7 material suitable for benchmarking laboratory sample preparation methods, but NCI-7 sample generation is highly reproducible at both the global and phosphoprotein levels. In addition, the predicted genomic and experimental coverage of the NCI-7 proteome suggests the NCI-7 material may also have applications as a universal standard proteomic reference.

2018-05-14 | PXD008952 | Pride

Longitudinal study of veal calves in the Netherlands

Project description:Longitudinal veal study

| PRJEB83274 | ENA

NCI-Maryland Prostate Cancer Case-Control Study

Project description:NCI-Maryland Prostate Cancer Case-Control Study

| PRJNA845916 | ENA

NCI-Maryland Prostate Cancer Case-Control Study

Project description:NCI-Maryland Prostate Cancer Case-Control Study

| PRJNA845917 | ENA