SPG3A

Spastic paraplegia 3A (autosomal dominant), also known as SPG3A, is a human gene.cite web | title = Entrez Gene: SPG3A spastic paraplegia 3A (autosomal dominant)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51062| accessdate = ]

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References

Further reading

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*cite journal | author=Gispert S, Santos N, Damen R, "et al." |title=Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity. |journal=Am. J. Hum. Genet. |volume=56 |issue= 1 |pages= 183–7 |year= 1995 |pmid= 7825576 |doi=
*cite journal | author=Maruyama K, Sugano S |title=Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides. |journal=Gene |volume=138 |issue= 1-2 |pages= 171–4 |year= 1994 |pmid= 8125298 |doi=10.1016/0378-1119(94)90802-8
*cite journal | author=Hazan J, Lamy C, Melki J, "et al." |title=Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q. |journal=Nat. Genet. |volume=5 |issue= 2 |pages= 163–7 |year= 1994 |pmid= 8252041 |doi= 10.1038/ng1093-163
*cite journal | author=Andersson B, Wentland MA, Ricafrente JY, "et al." |title=A "double adaptor" method for improved shotgun library construction. |journal=Anal. Biochem. |volume=236 |issue= 1 |pages= 107–13 |year= 1996 |pmid= 8619474 |doi= 10.1006/abio.1996.0138
*cite journal | author=Yu W, Andersson B, Worley KC, "et al." |title=Large-scale concatenation cDNA sequencing. |journal=Genome Res. |volume=7 |issue= 4 |pages= 353–8 |year= 1997 |pmid= 9110174 |doi=
*cite journal | author=Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, "et al." |title=Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library. |journal=Gene |volume=200 |issue= 1-2 |pages= 149–56 |year= 1997 |pmid= 9373149 |doi=10.1016/S0378-1119(97)00411-3
*cite journal | author=Zhao X, Alvarado D, Rainier S, "et al." |title=Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia. |journal=Nat. Genet. |volume=29 |issue= 3 |pages= 326–31 |year= 2001 |pmid= 11685207 |doi= 10.1038/ng758
*cite journal | author=Muglia M, Magariello A, Nicoletti G, "et al." |title=Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia. |journal=Ann. Neurol. |volume=51 |issue= 6 |pages= 794–5 |year= 2002 |pmid= 12112092 |doi= 10.1002/ana.10185
*cite journal | author=Luan Z, Zhang Y, Liu A, "et al." |title=A novel GTP-binding protein hGBP3 interacts with NIK/HGK. |journal=FEBS Lett. |volume=530 |issue= 1-3 |pages= 233–8 |year= 2002 |pmid= 12387898 |doi=10.1016/S0014-5793(02)03467-1
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Tessa A, Casali C, Damiano M, "et al." |title=SPG3A: An additional family carrying a new atlastin mutation. |journal=Neurology |volume=59 |issue= 12 |pages= 2002–5 |year= 2003 |pmid= 12499504 |doi=
*cite journal | author=Heilig R, Eckenberg R, Petit JL, "et al." |title=The DNA sequence and analysis of human chromosome 14. |journal=Nature |volume=421 |issue= 6923 |pages= 601–7 |year= 2003 |pmid= 12508121 |doi= 10.1038/nature01348
*cite journal | author=Dalpozzo F, Rossetto MG, Boaretto F, "et al." |title=Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation. |journal=Neurology |volume=61 |issue= 4 |pages= 580–1 |year= 2004 |pmid= 12939451 |doi=
*cite journal | author=Zhu PP, Patterson A, Lavoie B, "et al." |title=Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin. |journal=J. Biol. Chem. |volume=278 |issue= 49 |pages= 49063–71 |year= 2004 |pmid= 14506257 |doi= 10.1074/jbc.M306702200
*cite journal | author=Wilkinson PA, Hart PE, Patel H, "et al." |title=SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia. |journal=J. Neurol. Sci. |volume=216 |issue= 1 |pages= 43–5 |year= 2004 |pmid= 14607301 |doi=10.1016/S0022-510X(03)00210-7
*cite journal | author=Sauter SM, Engel W, Neumann LM, "et al." |title=Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus. |journal=Hum. Mutat. |volume=23 |issue= 1 |pages= 98 |year= 2004 |pmid= 14695538 |doi= 10.1002/humu.9205
*cite journal | author=D'Amico A, Tessa A, Sabino A, "et al." |title=Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene. |journal=Neurology |volume=62 |issue= 11 |pages= 2138–9 |year= 2004 |pmid= 15184642 |doi=
*cite journal | author=Hedera P, Fenichel GM, Blair M, Haines JL |title=Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia. |journal=Arch. Neurol. |volume=61 |issue= 10 |pages= 1600–3 |year= 2004 |pmid= 15477516 |doi= 10.1001/archneur.61.10.1600
*cite journal | author=Gerhard DS, Wagner L, Feingold EA, "et al." |title=The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). |journal=Genome Res. |volume=14 |issue= 10B |pages= 2121–7 |year= 2004 |pmid= 15489334 |doi= 10.1101/gr.2596504
*cite journal | author=Abel A, Fonknechten N, Hofer A, "et al." |title=Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A. |journal=Neurogenetics |volume=5 |issue= 4 |pages= 239–43 |year= 2005 |pmid= 15517445 |doi= 10.1007/s10048-004-0191-2

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  • Spastische Paraplegie — Klassifikation nach ICD 10 G11.4 Hereditäre spastische Paraplegie …   Deutsch Wikipedia

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