| 1 | ATL1, SPG3A
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| Structures of the atlastin GTPase provide insight into homotypic fusion of endoplasmic reticulum membranes.
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| Bian X, Klemm RW, Liu TY, Zhang M, Sun S, Sui X, Liu X, Rapoport TA, Hu J.
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| Proc Natl Acad Sci U S A 108(10):3976-81. Epub 2011 Feb 22.
2011
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| 2 | ATL1, REEP1, SPAST, SPG3A
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| Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network.
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| Park SH, Zhu PP, Parker RL, Blackstone C.
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| J Clin Invest 120(4):1097-110.PMID: 20200447 2010
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| 3 | ATL1, SPG3A
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| Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.
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| Smith BN, Bevan S, Vance C, Renwick P, Wilkinson P, Proukakis C, Squitieri F, Berardelli A, Warner TT, Reid E, Shaw CE.
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| Clin Genet 75(5):485-9. 2009
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| 4 | ATL1, SPG3A
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| Extending the clinical spectrum of SPG3A mutations to a very severe and very early complicated phenotype.
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| Haberlov J, Claeys KG, Zmenk J, De Jonghe P, Seeman P.
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| J Neurol Neurol. 2008 Apr 30. [Epub ahead of print] No abstract available. 2008
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| 5 | ATL1, SPG10, SPG12, SPG13, SPG17, SPG19, SPG29, SPG31, SPG33, SPG3A, SPG4, SPG41, SPG6, SPG8, SPG9
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| A novel candidate locus on chromosome 11p14.1-p11.2 for autosomal dominant hereditary spastic paraplegia.
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| Zhao GH, Hu ZM, Shen L, Jiang H, Ren ZJ, Liu XM, Xia K, Guo P, Pan Q, Tang BS.
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| Chin Med J (Engl) 121(5):430-4. 2008
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| 6 | ATL1, SPG3A
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| Hereditary spastic paraplegia 3A associated with axonal neuropathy.
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| Ivanova N, Claeys KG, Deconinck T, Litvinenko I, Jordanova A, Auer-Grumbach M, Haberlova J, Lfgren A, Smeyers G, Nelis E, Mercelis R, Plecko B, Priller J, Zmecnk J, Ceulemans B, Erichsen AK, Bjrck E, Nicholson G, Sereda MW, Seeman P, Kremensky I, Mitev V, De Jonghe P.
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| Arch Neurol 64(5):706-13. 2007
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| 7 | ATL1, SPG3A
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| Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis.
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| 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.
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| Mol Cell Neurosci 35(1):1-13. Epub 2007 Jan 26. 2007
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| 8 | ATL1, SPG3A
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| A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia.
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| Matsui M, Kawarai T, Hase Y, Tomimoto H, Iseki K, Rogaeva E, Orlacchio A, Bernardi G, St George-Hyslop P, Takahashi R, Matsui M.
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| J Neurol 254(7):972-4. Epub 2007 Mar 22. No abstract available. 2007
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| 9 | ATL1, SPAST, SPG3A
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| Spastin and atlastin, two proteins mutated in autosomal-dominant hereditary spastic paraplegia, are binding partners.
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| Sanderson CM, Connell JW, Edwards TL, Bright NA, Duley S, Thompson A, Luzio JP, Reid E.
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| Hum Mol Genet 15(2):307-18. Epub 2005 Dec 8. 2006
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| 10 | ATL1, SPG3A
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| A founder effect and mutational hot spots may contribute to the most frequent mutations in the SPG3A gene.
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| Namekawa M, Nelson I, Ribai P, Durr A, Denis E, Stevanin G, Ruberg M, Brice A.
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| Neurogenetics 7(2):131-2. Epub 2006 Apr 13. No abstract available. 2006
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| 11 | ATL1, SPG3A
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| The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy.
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| Scarano V, Mancini P, Criscuolo C, De Michele G, Rinaldi C, Tucci T, Tessa A, Santorelli FM, Perretti A, Santoro L, Filla A.
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| J Neurol 252(8):901-3. Epub 2005 Mar 8. 2005
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| 12 | ATL1, SPG3A
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| Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia.
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| 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.
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| Arch Neurol 61(12):1867-72. 2004
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| 13 | ATL1, SPG3A
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| Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin.
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| Zhu PP, Patterson A, Lavoie B, Stadler J, Shoeb M, Patel R, Blackstone C.
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| J Biol Chem 278(49):49063-71. Epub 2003 Sep 23. 2003
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| 14 | ATL1, SPG25, SPG3A
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| Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1.
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| Zortea M, Vettori A, Trevisan CP, Bellini S, Vazza G, Armani M, Simonati A, Mostacciuolo ML.
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| J Med Genet 39(6):387-90. 2002
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| 15 | ATL1, SPG3A
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| Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.
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| 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.
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| Nat Genet 29(3):326-31. 2001
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| 16 | ATL1, SPG3A
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| Quality assessment of whole genome mapping data in the refined familial spastic paraplegia interval on chromosome 14q.
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| Paternotte C, et al.
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| Genome Res 8(11):1216-27. 1998
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| 17 | ATL1, SPG3A
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| Another pedigree with pure autosomal dominant spastic paraplegia (AD-FSP) from Tibet mapping to 14q11.2-q24.3.
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| Huang S, Zhuyu, Li H, Labu, Baizhu, Lo WH, Fischer C, Vogel F.
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| Hum Genet 100(5-6):620-3. 1997
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| 18 | ATL1, SPAST, SPG1, SPG2, SPG3A, SPG5A, SPG6
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| Molecular genetics of familial spastic paraplegia : a multitude of responsible genes.
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| Kobayashi H, et al.
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| J Neurol Sci 137 : 131-138. 1996
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| 19 | SPG3A
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| Autosomal dominant familial spastic paraplegia : reduction of the FSPI candidate region on chromosome 14q to 7 cM and locus heterogeneity.
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| Gispert S, et al.
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| Am J Hum Genet 56 : 183-187. 1995
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| 20 | SPG3A
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| Pure hereditary spastic paraparesis : an exclusion map covering more than 40 % of the autosomal genome.
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| Van Deutekom JCT, et al.
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| Hum Genet 93 : 408-414. 1994
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| 21 | ATL1, SPG3A
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| Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q.
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| Hazan J, et al.
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| Nat Genet 5 : 163-167. 1993
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