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Spatacsin, in combination with the SPG15 protein, attaches the AP5 adaptor complex to the outside of late Endosomes or Lysosomes when the protein via which it binds is in a particular state.[8]
Pathology
Mutations of the SPG11 gene cause a rare form of spastic paraplegia, spastic paraplegia type 11.
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Martínez Murillo F, Kobayashi H, Pegoraro E, Galluzzi G, Creel G, Mariani C, Farina E, Ricci E, Alfonso G, Pauli RM, Hoffman EP (July 1999). "Genetic localization of a new locus for recessive familial spastic paraparesis to 15q13-15". Neurology. 53 (1): 50–6. doi:10.1212/wnl.53.1.50. PMID10408536. S2CID26987441.
^Stevanin G, Santorelli FM, Azzedine H, Coutinho P, Chomilier J, Denora PS, Martin E, Ouvrard-Hernandez AM, Tessa A, Bouslam N, Lossos A, Charles P, Loureiro JL, Elleuch N, Confavreux C, Cruz VT, Ruberg M, Leguern E, Grid D, Tazir M, Fontaine B, Filla A, Bertini E, Durr A, Brice A (March 2007). "Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum". Nature Genetics. 39 (3): 366–72. doi:10.1038/ng1980. PMID17322883. S2CID970017.
Hehr U, Bauer P, Winner B, Schule R, Olmez A, Koehler W, Uyanik G, Engel A, Lenz D, Seibel A, Hehr A, Ploetz S, Gamez J, Rolfs A, Weis J, Ringer TM, Bonin M, Schuierer G, Marienhagen J, Bogdahn U, Weber BH, Topaloglu H, Schols L, Riess O, Winkler J (December 2007). "Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia". Annals of Neurology. 62 (6): 656–65. doi:10.1002/ana.21310. PMID18067136. S2CID11979834.
Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S (October 1997). "Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene. 200 (1–2): 149–56. doi:10.1016/S0378-1119(97)00411-3. PMID9373149.
Maruyama K, Sugano S (January 1994). "Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene. 138 (1–2): 171–4. doi:10.1016/0378-1119(94)90802-8. PMID8125298.
This page was last edited on 25 September 2022, at 17:08