SACS (gene)

Spastic ataxia of Charlevoix-Saguenay (sacsin), also known as SACS, is a human gene.cite web | title = Entrez Gene: SACS spastic ataxia of Charlevoix-Saguenay (sacsin)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=26278| accessdate = ]

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References

Further reading

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*cite journal | author=Nagase T, Ishikawa K, Suyama M, "et al." |title=Prediction of the coding sequences of unidentified human genes. XI. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. |journal=DNA Res. |volume=5 |issue= 5 |pages= 277–86 |year= 1999 |pmid= 9872452 |doi=
*cite journal | author=Engert JC, Doré C, Mercier J, "et al." |title=Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS): high-resolution physical and transcript map of the candidate region in chromosome region 13q11. |journal=Genomics |volume=62 |issue= 2 |pages= 156–64 |year= 2000 |pmid= 10610707 |doi= 10.1006/geno.1999.6003
*cite journal | author=Engert JC, Bérubé P, Mercier J, "et al." |title=ARSACS, a spastic ataxia common in northeastern Québec, is caused by mutations in a new gene encoding an 11.5-kb ORF. |journal=Nat. Genet. |volume=24 |issue= 2 |pages= 120–5 |year= 2000 |pmid= 10655055 |doi= 10.1038/72769
*cite journal | author=Mercier J, Prévost C, Engert JC, "et al." |title=Rapid detection of the sacsin mutations causing autosomal recessive spastic ataxia of Charlevoix-Saguenay. |journal=Genet. Test. |volume=5 |issue= 3 |pages= 255–9 |year= 2002 |pmid= 11788093 |doi= 10.1089/10906570152742326
*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=Ota T, Suzuki Y, Nishikawa T, "et al." |title=Complete sequencing and characterization of 21,243 full-length human cDNAs. |journal=Nat. Genet. |volume=36 |issue= 1 |pages= 40–5 |year= 2004 |pmid= 14702039 |doi= 10.1038/ng1285
*cite journal | author=Criscuolo C, Banfi S, Orio M, "et al." |title=A novel mutation in SACS gene in a family from southern Italy. |journal=Neurology |volume=62 |issue= 1 |pages= 100–2 |year= 2004 |pmid= 14718706 |doi=
*cite journal | author=Grieco GS, Malandrini A, Comanducci G, "et al." |title=Novel SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay type. |journal=Neurology |volume=62 |issue= 1 |pages= 103–6 |year= 2004 |pmid= 14718707 |doi=
*cite journal | author=Ogawa T, Takiyama Y, Sakoe K, "et al." |title=Identification of a SACS gene missense mutation in ARSACS. |journal=Neurology |volume=62 |issue= 1 |pages= 107–9 |year= 2004 |pmid= 14718708 |doi=
*cite journal | author=Dunham A, Matthews LH, Burton J, "et al." |title=The DNA sequence and analysis of human chromosome 13. |journal=Nature |volume=428 |issue= 6982 |pages= 522–8 |year= 2004 |pmid= 15057823 |doi= 10.1038/nature02379
*cite journal | author=Richter AM, Ozgul RK, Poisson VC, Topaloglu H |title=Private SACS mutations in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) families from Turkey. |journal=Neurogenetics |volume=5 |issue= 3 |pages= 165–70 |year= 2005 |pmid= 15156359 |doi= 10.1007/s10048-004-0179-y
*cite journal | author=Shimazaki H, Takiyama Y, Sakoe K, "et al." |title=A phenotype without spasticity in sacsin-related ataxia. |journal=Neurology |volume=64 |issue= 12 |pages= 2129–31 |year= 2006 |pmid= 15985586 |doi= 10.1212/01.WNL.0000166031.91514.B3
*cite journal | author=Yamamoto Y, Hiraoka K, Araki M, "et al." |title=Novel compound heterozygous mutations in sacsin-related ataxia. |journal=J. Neurol. Sci. |volume=239 |issue= 1 |pages= 101–4 |year= 2006 |pmid= 16198375 |doi= 10.1016/j.jns.2005.08.005
*cite journal | author=Ouyang Y, Takiyama Y, Sakoe K, "et al." |title=Sacsin-related ataxia (ARSACS): expanding the genotype upstream from the gigantic exon. |journal=Neurology |volume=66 |issue= 7 |pages= 1103–4 |year= 2006 |pmid= 16606928 |doi= 10.1212/01.wnl.0000204300.94261.ea
*cite journal | author=Takado Y, Hara K, Shimohata T, "et al." |title=New mutation in the non-gigantic exon of SACS in Japanese siblings. |journal=Mov. Disord. |volume=22 |issue= 5 |pages= 748–9 |year= 2007 |pmid= 17290461 |doi= 10.1002/mds.21365

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