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A point mutation in translation initiation factor 2B leads to a continuous hyper stress state in oligodendroglial-derived cells.

PloS one | 2008

Mutations in eukaryotic translation initiation factor 2B (eIF2B) cause Childhood Ataxia with CNS Hypomyelination (CACH), also known as Vanishing White Matter disease (VWM). The disease is manifested by loss of brain myelin upon physiological stress. In a previous study, we showed that fibroblasts isolated from CACH/VWM patients are hypersensitive to pharmacologically-induced endoplasmic reticulum (ER) stress. Since brain cells from affected individuals are not available for research, we wished to assess the effect of eIF2B mutation on oligodendroglial-derived cells.

Pubmed ID: 19023445 RIS Download

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Associated grants

  • Agency: NICHD NIH HHS, United States
    Id: 5R24 HD050846
  • Agency: NICHD NIH HHS, United States
    Id: K12 HD001399
  • Agency: NICHD NIH HHS, United States
    Id: T32 HD046388
  • Agency: NICHD NIH HHS, United States
    Id: P30 HD040677
  • Agency: NICHD NIH HHS, United States
    Id: 1P30HD40677
  • Agency: NINDS NIH HHS, United States
    Id: K08 NS060695
  • Agency: NICHD NIH HHS, United States
    Id: R24 HD050846
  • Agency: NICHD NIH HHS, United States
    Id: 5T32HD046388
  • Agency: NICHD NIH HHS, United States
    Id: K12HD001399

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BioWorks (tool)

RRID:SCR_014594

A a configurable software package for peptide and protein mass spectrometry analyses. It includes the SEQUEST search algorithm to identify separate proteins in complex mixtures, interactive navigation tools to filter and sort protein summaries, customized spectral plots, and chromatograms using the PEPMATCH and PEPMAP tools. This software also has batch processing capabilities to improve throughput by queuing up several files, and custom-build proprietary databases, index databases, and retrieve databases through a public server.

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