IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).

@article{Guenther2009IGHMBP2IA,
  title={IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1).},
  author={Ulf-Peter Guenther and Lusy Handoko and Bernhard Laggerbauer and Sibylle Jablonka and Ashwin Chari and Mona Alzheimer and Juergen Ohmer and Oliver Pl{\"o}ttner and Niels H Gehring and Albert Sickmann and Katja von Au and Markus Schuelke and Utz Fischer},
  journal={Human molecular genetics},
  year={2009},
  volume={18 7},
  pages={1288-300}
}
Distal spinal muscular atrophy type 1 (DSMA1) is an autosomal recessive disease that is clinically characterized by distal limb weakness and respiratory distress. In this disease, the degeneration of alpha-motoneurons is caused by mutations in the immunoglobulin mu-binding protein 2 (IGHMBP2). This protein has been implicated in DNA replication, pre-mRNA splicing and transcription, but its precise function in all these processes has remained elusive. We have purified catalytically active… CONTINUE READING

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