Atlastin-1

Short description: Protein-coding gene in the species Homo sapiens

Atlastin-1, is a protein that in humans is encoded by the ATL1 gene.^[1]^[2]^[3]^[4]

References

↑ "Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia". Nature Genetics 29 (3): 326–31. November 2001. doi:10.1038/ng758. PMID 11685207. http://www.nature.com/articles/ng758z.
↑ "Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q". Nature Genetics 5 (2): 163–7. October 1993. doi:10.1038/ng1093-163. PMID 8252041.
↑ "Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity". American Journal of Human Genetics 56 (1): 183–7. January 1995. PMID 7825576.
↑ "Entrez Gene: SPG3A spastic paraplegia 3A (autosomal dominant)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51062.

External links

GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 3A
Human ATL1 genome location and ATL1 gene details page in the UCSC Genome Browser.
Human GBP3 genome location and GBP3 gene details page in the UCSC Genome Browser.

"Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides". Gene 138 (1–2): 171–4. January 1994. doi:10.1016/0378-1119(94)90802-8. PMID 8125298.
"A "double adaptor" method for improved shotgun library construction". Analytical Biochemistry 236 (1): 107–13. April 1996. doi:10.1006/abio.1996.0138. PMID 8619474.
"Large-scale concatenation cDNA sequencing". Genome Research 7 (4): 353–8. April 1997. doi:10.1101/gr.7.4.353. PMID 9110174.
"Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library". Gene 200 (1–2): 149–56. October 1997. doi:10.1016/S0378-1119(97)00411-3. PMID 9373149.
"Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia". Nature Genetics 29 (3): 326–31. November 2001. doi:10.1038/ng758. PMID 11685207.
"Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia". Annals of Neurology 51 (6): 794–5. June 2002. doi:10.1002/ana.10185. PMID 12112092.
"A novel GTP-binding protein hGBP3 interacts with NIK/HGK". FEBS Letters 530 (1–3): 233–8. October 2002. doi:10.1016/S0014-5793(02)03467-1. PMID 12387898.
"SPG3A: An additional family carrying a new atlastin mutation". Neurology 59 (12): 2002–5. December 2002. doi:10.1212/01.wnl.0000036902.21438.98. PMID 12499504.
"Infancy onset hereditary spastic paraplegia associated with a novel atlastin mutation". Neurology 61 (4): 580–1. August 2003. doi:10.1212/01.wnl.0000078189.73611.df. PMID 12939451.
"Cellular localization, oligomerization, and membrane association of the hereditary spastic paraplegia 3A (SPG3A) protein atlastin". The Journal of Biological Chemistry 278 (49): 49063–71. December 2003. doi:10.1074/jbc.M306702200. PMID 14506257.
"SPG3A mutation screening in English families with early onset autosomal dominant hereditary spastic paraplegia". Journal of the Neurological Sciences 216 (1): 43–5. December 2003. doi:10.1016/S0022-510X(03)00210-7. PMID 14607301.
"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". Human Mutation 23 (1): 98. January 2004. doi:10.1002/humu.9205. PMID 14695538.
"Incomplete penetrance in an SPG3A-linked family with a new mutation in the atlastin gene". Neurology 62 (11): 2138–9. June 2004. doi:10.1212/01.wnl.0000127698.88895.85. PMID 15184642.
"Novel mutation in the SPG3A gene in an African American family with an early onset of hereditary spastic paraplegia". Archives of Neurology 61 (10): 1600–3. October 2004. doi:10.1001/archneur.61.10.1600. PMID 15477516.
"Early onset autosomal dominant spastic paraplegia caused by novel mutations in SPG3A". Neurogenetics 5 (4): 239–43. December 2004. doi:10.1007/s10048-004-0191-2. PMID 15517445.

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[1] "Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia". Nature Genetics 29 (3): 326–31. November 2001. doi:10.1038/ng758. PMID 11685207. http://www.nature.com/articles/ng758z.

[pmid8252041-2] "Autosomal dominant familial spastic paraplegia is genetically heterogeneous and one locus maps to chromosome 14q". Nature Genetics 5 (2): 163–7. October 1993. doi:10.1038/ng1093-163. PMID 8252041.

[pmid7825576-3] "Autosomal dominant familial spastic paraplegia: reduction of the FSP1 candidate region on chromosome 14q to 7 cM and locus heterogeneity". American Journal of Human Genetics 56 (1): 183–7. January 1995. PMID 7825576.

[entrez-4] "Entrez Gene: SPG3A spastic paraplegia 3A (autosomal dominant)". https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=51062.

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Atlastin-1

Topic: Biology

References

External links

Further reading