Citations for
1CYP7B1, SPG5A
CYP7B1: one cytochrome P450, two human genetic diseases, and multiple physiological functions.
Stiles AR, McDonald JG, Bauman DR, Russell DW.
J Biol Chem 284(42):28485-9. Epub 2009 Aug 16. Review.PMID: 19687010 2009
2CYP7B1, SPG5A
CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.
Goizet C, Boukhris A, Durr A, Beetz C, Truchetto J, Tesson C, Tsaousidou M, Forlani S, Guyant-Maréchal L, Fontaine B, Guimarães J, Isidor B, Chazouillères O, Wendum D, Grid D, Chevy F, Chinnery PF, Coutinho P, Azulay JP, Feki I, Mochel F, Wolf C, Mhiri C, Crosby A, Brice A, Stevanin G.
Brain 132(Pt 6):1589-600. Epub 2009 May 12.PMID: 19439420 2009
3CYP7B1, SPG5A
Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.
Tsaousidou MK, Ouahchi K, Warner TT, Yang Y, Simpson MA, Laing NG, Wilkinson PA, Madrid RE, Patel H, Hentati F, Patton MA, Hentati A, Lamont PJ, Siddique T, Crosby AH.
Am J Hum Genet 82(2):510-5. Epub 2008 Jan 18. 2008
4SPG5A
Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description.
Klebe S, Durr A, Bouslam N, Grid D, Paternotte C, Depienne C, Hanein S, Bouhouche A, Elleuch N, Azzedine H, Poea-Guyon S, Forlani S, Denis E, Charon C, Hazan J, Brice A, Stevanin G.
Am J Med Genet B Neuropsychiatr Genet 144(7):854-61. 2007
5ATL1, SPAST, SPG1, SPG2, SPG3A, SPG5A, SPG6
Molecular genetics of familial spastic paraplegia : a multitude of responsible genes.
Kobayashi H, et al.
J Neurol Sci 137 : 131-138. 1996
6SPG5A
Linkage of 'pure' autosomal recessive familial spastic paraplegia to chromosome 8 markers and evidence of genetic locus heterogeneity.
Hentati A, et al.
Hum Mol Genet 3 : 1263-1267. 1994