Citations for
Atlastin-1 regulates dendritic morphogenesis in mouse cerebral cortex.
Gao Y, Jiang T, Qu C, Tao H, Cao H, Zhao Y, Wang Y, Qu J, Chen J.
Neurosci Res. 2013
A conserved role for atlastin GTPases in regulating lipid droplet size.
Klemm RW, Norton JP, Cole RA, Li CS, Park SH, Crane MM, Li L, Jin D, Boye-Doe A, Liu TY, Shibata Y, Lu H, Rapoport TA, Farese RV Jr, Blackstone C, Guo Y, Mak HY.
Cell Rep 3(5):1465-75. doi: 10.1016/j.celrep.2013.04.015. Epub 2013 May 16. 2013
Targeted high-throughput sequencing identifies mutations in atlastin-1 as a cause of hereditary sensory neuropathy type I.
Guelly C, Zhu PP, Leonardis L, Papiæ L, Zidar J, Schabhüttl M, Strohmaier H, Weis J, Strom TM, Baets J, Willems J, De Jonghe P, Reilly MM, Fröhlich E, Hatz M, Trajanoski S, Pieber TR, Janecke AR, Blackstone C, Auer-Grumbach M.
Am J Hum Genet 88(1):99-105. Epub 2010 Dec 30.PMID: 21194679 2011
Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes.
Bian X, Klemm RW, Liu TY, Zhang M, Sun S, Sui X, Liu X, Rapoport TA, Hu J.
Proc Natl Acad Sci U S A 108(10):3976-81. Epub 2011 Feb 22. 2011
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
Park SH, Zhu PP, Parker RL, Blackstone C.
J Clin Invest 120(4):1097-110.PMID: 20200447 2010
Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
Park SH, Zhu PP, Parker RL, Blackstone C.
J Clin Invest 120(4):1097-110. doi: 10.1172/JCI40979. 2010
Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.
Smith BN, Bevan S, Vance C, Renwick P, Wilkinson P, Proukakis C, Squitieri F, Berardelli A, Warner TT, Reid E, Shaw CE.
Clin Genet 75(5):485-9. 2009
A class of dynamin-like GTPases involved in the generation of the tubular ER network.
Hu J, Shibata Y, Zhu PP, Voss C, Rismanchi N, Prinz WA, Rapoport TA, Blackstone C.
Cell. 138(3):549-61. 2009
Atlastin GTPases are required for Golgi apparatus and ER morphogenesis.
Rismanchi N, Soderblom C, Stadler J, Zhu PP, Blackstone C.
Hum Mol Genet 17(11):1591-604. Epub 2008 Feb 12. 2008
Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.
Haberlov‡ J, Claeys KG, Z‡men’k J, De Jonghe P, Seeman P.
J Neurol Neurol. 2008 Apr 30. [Epub ahead of print] No abstract available. 2008
11ATL1, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31, SPG33, SPG3A, SPG4, SPG41, SPG6, SPG8, SPG9
A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
Zhao GH, Hu ZM, Shen L, Jiang H, Ren ZJ, Liu XM, Xia K, Guo P, Pan Q, Tang BS.
Chin Med J (Engl) 121(5):430-4. 2008
Hereditary spastic paraplegia 3A associated with axonal neuropathy.
Ivanova N, Claeys KG, Deconinck T, Litvinenko I, Jordanova A, Auer-Grumbach M, Haberlova J, Löfgren A, Smeyers G, Nelis E, Mercelis R, Plecko B, Priller J, Zámecník J, Ceulemans B, Erichsen AK, Björck E, Nicholson G, Sereda MW, Seeman P, Kremensky I, Mitev V, De Jonghe P.
Arch Neurol 64(5):706-13. 2007
Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.
Namekawa M, Muriel MP, Janer A, Latouche M, Dauphin A, Debeir T, Martin E, Duyckaerts C, Prigent A, Depienne C, Sittler A, Brice A, Ruberg M.
Mol Cell Neurosci 35(1):1-13. Epub 2007 Jan 26. 2007
A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia.
Matsui M, Kawarai T, Hase Y, Tomimoto H, Iseki K, Rogaeva E, Orlacchio A, Bernardi G, St George-Hyslop P, Takahashi R, Matsui M.
J Neurol 254(7):972-4. Epub 2007 Mar 22. No abstract available. 2007
Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.
Sanderson CM, Connell JW, Edwards TL, Bright NA, Duley S, Thompson A, Luzio JP, Reid E.
Hum Mol Genet 15(2):307-18. Epub 2005 Dec 8. 2006
SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development.
Zhu PP, Soderblom C, Tao-Cheng JH, Stadler J, Blackstone C.
Hum Mol Genet 15(8):1343-53. Epub 2006 Mar 14. 2006
A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene.
Namekawa M, Nelson I, Ribai P, Durr A, Denis E, Stevanin G, Ruberg M, Brice A.
Neurogenetics 7(2):131-2. Epub 2006 Apr 13. No abstract available. 2006
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.
Scarano V, Mancini P, Criscuolo C, De Michele G, Rinaldi C, Tucci T, Tessa A, Santorelli FM, Perretti A, Santoro L, Filla A.
J Neurol 252(8):901-3. Epub 2005 Mar 8. 2005
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.
Durr A, Camuzat A, Colin E, Tallaksen C, Hannequin D, Coutinho P, Fontaine B, Rossi A, Gil R, Rousselle C, Ruberg M, Stevanin G, Brice A.
Arch Neurol 61(12):1867-72. 2004
Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin.
Zhu PP, Patterson A, Lavoie B, Stadler J, Shoeb M, Patel R, Blackstone C.
J Biol Chem 278(49):49063-71. Epub 2003 Sep 23. 2003
21ATL1, SPG25, SPG3A
Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1.
Zortea M, Vettori A, Trevisan CP, Bellini S, Vazza G, Armani M, Simonati A, Mostacciuolo ML.
J Med Genet 39(6):387-90. 2002
A novel GTP-binding protein hGBP3 interacts with NIK/HGK.
Luan Z, Zhang Y, Liu A, Man Y, Cheng L, Hu G.
FEBS Lett. 530(1-3):233-8. 2002
Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.
Zhao X, Alvarado D, Rainier S, Lemons R, Hedera P, Weber CH, Tukel T, Apak M, Heiman-Patterson T, Ming L, Bui M, Fink JK.
Nat Genet 29(3):326-31. 2001
Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.
Paternotte C, et al.
Genome Res 8(11):1216-27. 1998
Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3.
Huang S, Zhuyu, Li H, Labu, Baizhu, Lo WH, Fischer C, Vogel F.
Hum Genet 100(5-6):620-3. 1997
Molecular genetics of familial spastic paraplegia : a multitude of responsible genes.
Kobayashi H, et al.
J Neurol Sci 137 : 131-138. 1996
Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.
Hazan J, et al.
Nat Genet 5 : 163-167. 1993