Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons

Neurogenetics

Volumn 11, Issue 4, 2010, Pages 369-378

  Soderblom, Cynthia ^a,b,c   Stadler, Julia ^c   Jupille, Henri ^c   Blackstone, Craig ^c   Shupliakov, Oleg ^b   Hanna, Michael C ^c  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b KAROLINSKA INSTITUTE   (Sweden)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

Author keywords

ACP33; CD4; Hereditary spastic paraplegia; Maspardin; Rab7

Indexed keywords

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BRAIN CELL; CONTROLLED STUDY; GENE; GENE DISRUPTION; HINDLIMB; HOMOLOGOUS RECOMBINATION; KNOCKOUT MOUSE; LIMB DISEASE; MAST SYNDROME; MOUSE; NERVE CELL CULTURE; NERVE FIBER GROWTH; NEUROPATHOLOGY; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SPG21 GENE; WILD TYPE;

AMINO ACID SEQUENCE; ANIMALS; AXONS; CARRIER PROTEINS; CEREBRAL CORTEX; EXTREMITIES; MICE; MICE, KNOCKOUT; MICE, TRANSGENIC; MOLECULAR SEQUENCE DATA; MUTAGENESIS; NEURONS; PHYLOGENY; RAB GTP-BINDING PROTEINS; SEQUENCE HOMOLOGY, AMINO ACID; SYNDROME;

ANIMALIA; MUS;

EID: 78650056095     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-010-0252-7     Document Type: Article

References (30)

1. Harding AE (1983) Classification of the hereditary ataxias and paraplegias. Lancet 1:1151-1155
2. Salinas S, Proukakis C, Crosby A, Warner TT (2008) Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 7:1127-1138
3. Reid E (2003) Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias. J Med Genet 40:81-86
4. Fink JK (2006) Hereditary spastic paraplegia. Curr Neurol Neurosci Rep 6:65-76
5. Soderblom C, Blackstone C (2006) Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias. Pharmacol Ther 109:42-56
6. Züchner S (2007) The genetics of hereditary spastic paraplegia and implications for drug therapy. Expert Opin Pharmacother 8:1433-1439
7. Stevanin G, Ruberg M, Brice A (2008) Recent advances in the genetics of spastic paraplegias. CurrNeurolNeurosci Rep 8:198-210
8. Hu J, Shibata Y, Zhu P-P, Voss C, Rismanchi N, PrinzWA, Rapoport TA, Blackstone C (2009) A class of dynamin-like GTPases involved in the generation of the tubular ER network. Cell 138:549-561
9. Orso G, Pendin D, Liu S, Tosetto J, Moss TJ, Faust JE, Micaroni M, Egorova A, Martinuzzi A, McNew JA, Daga A (2009) Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. Nature 460:978-983
10. Park SH, Zhu P-P, Parker RL, Blackstone C (2010) Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network. J Clin Invest 120:1097-1110
11. Cross HE, McKusick VA (1967) The Mast syndrome: a recessively inherited form of presenile dementia with motor disturbances. Arch Neurol 16:1-13
12. Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH (2003) Maspardin is mutated in Mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia. Am J Hum Genet 73:1147-1156
13. Zeitlmann L, Sirim P, Kremmer E, Kolanus W (2001) Cloning of ACP33 as a novel intracellular ligand of CD4. J Biol Chem 276:9123-9132
14. Hanna M, Blackstone C (2009) Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1. Neurogenetics 10:217-228
15. McCray BA, Skordalakes E, Taylor JP (2010) Disease mutations in Rab7 result in unregulated nucleotide exchange and inappropriate activation. Hum Mol Genet 19:1033-1047
16. Zhu P-P, Patterson A, Lavoie B, Stadler J, Shoeb M, Patel R, Blackstone C (2003) Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. J Biol Chem 278:49063-49071
17. Zheng Y-L, Li B-S, Veeranna, Pant HC (2003) Phosphorylation of the head domain of neurofilament protein (NF-M): a factor regulating topographic phosphorylation of NF-M tail domain KSP sites in neurons. J Biol Chem 278:24026-24032
18. Zhu P-P, Soderblom C, Tao-Cheng J-H, Stadler J, Blackstone C (2006) SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development. Hum Mol Genet 15:1343-1353
19. Solowska JM, Morfini G, Falnikar A, Himes BT, Brady ST, Huang D, Baas PW (2008) Quantitative and functional analyses of spastin in the nervous system: implications for hereditary spastic paraplegia. J Neurosci 28:2147-2157
20. Riano E, Martignoni M, Mancuso G, Cartelli D, Crippa F, Toldo I, Siciliano G, Di Bella D, Taroni F, Bassi MT, Cappelletti G, Ruglarli EI (2009) Pleiotropic effects of spastin on neurite growth depending on expression levels. J Neurochem 108:1277-1288
21. Qiang L, Yu W, Liu M, Solowska JM, Baas PW (2010) Basic fibroblast growth factor elicits formation of interstitial axonal branches via enhanced severing of microtubules. Mol Biol Cell 21:334-344
22. Madduri S, Papaloïzos M, Gander B (2009) Synergistic effect of GDNF and NGF on axonal branching and elongation in vitro. Neurosci Res 65:88-97
23. Reid E, Kloos M, Ashley-Koch A, Hughes L, Bevan S, Svenson IK, Graham FL, Gaskell PC, Dearlove A, Pericak-Vance MA, Rubinsztein DC, Marchuk DA (2002) A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10). Am J Hum Genet 71:1189-1194
24. Schweiger M, Lass A, Zimmermann R, Eichmann TO, Zechner R (2009) Neutral lipid storage disease: genetic disorders caused by mutations in adipose triglyceride lipase/PNPLA2 or CGI-58/ ABHD5. Am J Physiol Endocrinol Metab 297:E289-E296
25. Eastman SW, Yassaee M, Bieniasz PD (2009) A role for ubiquitin ligases and spartin/SPG20 in lipid droplet turnover. J Cell Biol 184:881-894
26. Edwards TL, Clowes VE, Tsang HT, Connell JW, Sanderson CM, Luzio JP, Reid E (2009) Endogenous spartin (SPG20) is recruited to endosomes and lipid droplets and interacts with the ubiquitin E3 ligases AIP4 and AIP5. Biochem J 423:31-39
27. Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K (2004) Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome. Nat Genet 36:271-276 (Pubitemid 38282752)
28. Rainier S, Bui M, Mark E, Thomas D, Tokarz D, Ming L, Delaney C, Richardson RJ, Albers JW, Matsunami N, Stevens J, Coon H, Leppert M, Fink JK (2008) Neuropathy target esterase gene mutations cause motor neuron disease. Am J Hum Genet 82:780-785
29. 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 (2008) Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration. Am J Hum Genet 82:510-515
30. Kabashi E, Lin L, Tradewell ML, Dion PA, Bercier V, Bourgouin P, Rochefort D, Bel Hadj S, Durham HD, Vande Velde C, Rouleau GA, Drapeau P (2010) Gain and loss of function of ALS-related mutations of TARDBP (TDP-43) cause motor deficits in vivo. Hum Mol Genet 19:671-683