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Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.

Publication ,  Journal Article
Züchner, S; Wang, G; Tran-Viet, K-N; Nance, MA; Gaskell, PC; Vance, JM; Ashley-Koch, AE; Pericak-Vance, MA
Published in: Am J Hum Genet
August 2006

Hereditary spastic paraplegia (HSP) comprises a group of clinically and genetically heterogeneous diseases that affect the upper motor neurons and their axonal projections. For the novel SPG31 locus on chromosome 2p12, we identified six different mutations in the receptor expression-enhancing protein 1 gene (REEP1). REEP1 mutations occurred in 6.5% of the patients with HSP in our sample, making it the third-most common HSP gene. We show that REEP1 is widely expressed and localizes to mitochondria, which underlines the importance of mitochondrial function in neurodegenerative disease.

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Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

August 2006

Volume

79

Issue

2

Start / End Page

365 / 369

Location

United States

Related Subject Headings

  • Spastic Paraplegia, Hereditary
  • Rats
  • Mutation
  • Molecular Sequence Data
  • Mitochondrial Proteins
  • Membrane Transport Proteins
  • Humans
  • Haplorhini
  • Genetics & Heredity
  • Animals
 

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Züchner, S., Wang, G., Tran-Viet, K.-N., Nance, M. A., Gaskell, P. C., Vance, J. M., … Pericak-Vance, M. A. (2006). Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet, 79(2), 365–369. https://doi.org/10.1086/505361
Züchner, Stephan, Gaofeng Wang, Khanh-Nhat Tran-Viet, Martha A. Nance, Perry C. Gaskell, Jeffery M. Vance, Allison E. Ashley-Koch, and Margaret A. Pericak-Vance. “Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.Am J Hum Genet 79, no. 2 (August 2006): 365–69. https://doi.org/10.1086/505361.
Züchner S, Wang G, Tran-Viet K-N, Nance MA, Gaskell PC, Vance JM, et al. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006 Aug;79(2):365–9.
Züchner, Stephan, et al. “Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31.Am J Hum Genet, vol. 79, no. 2, Aug. 2006, pp. 365–69. Pubmed, doi:10.1086/505361.
Züchner S, Wang G, Tran-Viet K-N, Nance MA, Gaskell PC, Vance JM, Ashley-Koch AE, Pericak-Vance MA. Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31. Am J Hum Genet. 2006 Aug;79(2):365–369.
Journal cover image

Published In

Am J Hum Genet

DOI

ISSN

0002-9297

Publication Date

August 2006

Volume

79

Issue

2

Start / End Page

365 / 369

Location

United States

Related Subject Headings

  • Spastic Paraplegia, Hereditary
  • Rats
  • Mutation
  • Molecular Sequence Data
  • Mitochondrial Proteins
  • Membrane Transport Proteins
  • Humans
  • Haplorhini
  • Genetics & Heredity
  • Animals