TY - JOUR
T1 - Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31
AU - Züchner, Stephan
AU - Wang, Gaofeng
AU - Tran-Viet, Khanh Nhat
AU - Nance, Martha A.
AU - Gaskell, Perry C.
AU - Vance, Jeffery M.
AU - Ashley-Koch, Allison E.
AU - Pericak-Vance, Margaret A.
PY - 2006/8
Y1 - 2006/8
N2 - 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.
AB - 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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U2 - 10.1086/505361
DO - 10.1086/505361
M3 - Article
C2 - 16826527
AN - SCOPUS:33746554263
VL - 79
SP - 365
EP - 369
JO - American Journal of Human Genetics
JF - American Journal of Human Genetics
SN - 0002-9297
IS - 2
ER -