1 | AHDS, SPART, SPG1, SPG10, SPG11, SPG12, SPG13, SPG14, SPG15, SPG16, SPG17, SPG19, SPG2, SPG21, SPG23, SPG24, SPG25, SPG26, SPG27, SPG28, SPG29, SPG30, SPG31, SPG32, SPG33, SPG35, SPG36, SPG37, SPG38, SPG39, SPG41, SPG41, SPG42, SPG43, SPG44, SPG45, SPG46, SPG47, SPG48, SPG49, SPG50, SPG51, SPG52, SPG53, SPG54, SPG55, SPG56 |
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms. | |
Fink JK. | |
Acta Neuropathol 126(3):307-28. doi: 10.1007/s00401-013-1115-8. Epub 2013 Jul 30. 2013 | |
2 | SPG21 |
Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons. | |
Soderblom C, Stadler J, Jupille H, Blackstone C, Shupliakov O, Hanna MC. | |
Neurogenetics 2010 | |
3 | ALDH16A1, SPG21 |
Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1. | |
Hanna MC, Blackstone C. | |
Neurogenetics 10(3):217-28. Epub 2009 Jan 31. 2009 | |
4 | NIPA1, SPART, SPAST, SPG21, ZFYVE26 |
The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling. | |
Tsang HT, Edwards TL, Wang X, Connell JW, Davies RJ, Durrington HJ, O'Kane CJ, Luzio JP, Reid E. | |
Hum Mol Genet 18(20):3805-21. Epub 2009 Jul 20.PMID: 19620182 2009 | |
5 | ATG101, C1orf59, CCDC51, CD37, CTF8, GLYAT, GSDMB, NDUFAF6, SPG21, TIAM2, ZNF35 |
Sequence comparison of human and mouse genes reveals a homologous block structure in the promoter regions. | |
Suzuki Y, Yamashita R, Shirota M, Sakakibara Y, Chiba J, Mizushima-Sugano J, Nakai K, Sugano S. | |
Genome Res 14(9):1711-8. 2004 | |
6 | SPG21 |
Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. | |
Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH. | |
Am J Hum Genet 73(6):1147-56. Epub 2003 Oct 16. 2003 | |
7 | SPG21 |
Cloning of ACP33 as a novel intracellular ligand of CD4. | |
Zeitlmann L, Sirim P, Kremmer E, Kolanus W. | |
J Biol Chem 276(12):9123-32. 2001 | |