Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy

@article{Kijima2005SmallHS,
  title={Small heat shock protein 27 mutation in a Japanese patient with distal hereditary motor neuropathy},
  author={Kazuki Kijima and Chikahiko Numakura and Tomohide Goto and Takao Takahashi and Tesshu Otagiri and Kazuo Umetsu and Kiyoshi Hayasaka},
  journal={Journal of Human Genetics},
  year={2005},
  volume={50},
  pages={473-476}
}
AbstractHeat shock protein 27 (HSP27) belongs to a family of small heat shock proteins that play significant roles in the cellular stress response and are also involved in the control of protein-protein interactions as chaperons. Mutation in HSP27 has been identified as the cause of axonal Charcot-Marie-Tooth disease (CMT) and distal hereditary motor neuropathy (HMN). Heat shock protein 22 (HSP22) is a molecular counterpart of HSP27, and its mutation is another cause of distal HMN. We screened… CONTINUE READING

Citations

Publications citing this paper.
Showing 1-10 of 30 extracted citations

Distal hereditary motor neuropathy in Korean patients with a small heat shock protein 27 mutation

Experimental & Molecular Medicine • 2008
View 11 Excerpts
Highly Influenced

Abnormal small heat shock protein interactions involving neuropathy-associated HSP22 (HSPB8) mutants.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology • 2006
View 6 Excerpts
Highly Influenced

References

Publications referenced by this paper.
Showing 1-10 of 20 references

Mutations in the small GTPase late endosomal protein RAB 7 cause Charcot – Marie – Tooth type 2 B neuropathy Am J Hum Genet

K Verhoeven, K Coen, N Verpoorten, JM Kwon
2003
View 1 Excerpt

Similar Papers

Loading similar papers…