Ataxin 3

Ataxin 3, also known as ATXN3, is a human gene. [cite web | title = Entrez Gene: ATXN3 ataxin 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4287| accessdate = ]

PBB_Summary
section_title =
summary_text = Machado-Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by this gene contains (CAG)n repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado-Joseph disease. There is an inverse correlation between the age of onset and CAG repeat numbers. Alternatively spliced transcript variants encoding different isoforms have been described for this gene.cite web | title = Entrez Gene: ATXN3 ataxin 3| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=4287| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Goto J, Watanabe M, Ichikawa Y, "et al." |title=Machado-Joseph disease gene products carrying different carboxyl termini. |journal=Neurosci. Res. |volume=28 |issue= 4 |pages= 373–7 |year= 1997 |pmid= 9274833 |doi=
*cite journal | author=Schöls L, Vieira-Saecker AM, Schöls S, "et al." |title=Trinucleotide expansion within the MJD1 gene presents clinically as spinocerebellar ataxia and occurs most frequently in German SCA patients. |journal=Hum. Mol. Genet. |volume=4 |issue= 6 |pages= 1001–5 |year= 1995 |pmid= 7655453 |doi=
*cite journal | author=Stevanin G, Cancel G, Dürr A, "et al." |title=The gene for spinal cerebellar ataxia 3 (SCA3) is located in a region of approximately 3 cM on chromosome 14q24.3-q32.2. |journal=Am. J. Hum. Genet. |volume=56 |issue= 1 |pages= 193–201 |year= 1995 |pmid= 7825578 |doi=
*cite journal | author=Kawaguchi Y, Okamoto T, Taniwaki M, "et al." |title=CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. |journal=Nat. Genet. |volume=8 |issue= 3 |pages= 221–8 |year= 1995 |pmid= 7874163 |doi= 10.1038/ng1194-221
*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=
*cite journal | author=Takiyama Y, Nishizawa M, Tanaka H, "et al." |title=The gene for Machado-Joseph disease maps to human chromosome 14q. |journal=Nat. Genet. |volume=4 |issue= 3 |pages= 300–4 |year= 1993 |pmid= 8358439 |doi= 10.1038/ng0793-300
*cite journal | author=Ikeda H, Yamaguchi M, Sugai S, "et al." |title=Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. |journal=Nat. Genet. |volume=13 |issue= 2 |pages= 196–202 |year= 1996 |pmid= 8640226 |doi= 10.1038/ng0696-196
*cite journal | author=Paulson HL, Das SS, Crino PB, "et al." |title=Machado-Joseph disease gene product is a cytoplasmic protein widely expressed in brain. |journal=Ann. Neurol. |volume=41 |issue= 4 |pages= 453–62 |year= 1997 |pmid= 9124802 |doi= 10.1002/ana.410410408
*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=
*cite journal | author=Wellington CL, Ellerby LM, Hackam AS, "et al." |title=Caspase cleavage of gene products associated with triplet expansion disorders generates truncated fragments containing the polyglutamine tract. |journal=J. Biol. Chem. |volume=273 |issue= 15 |pages= 9158–67 |year= 1998 |pmid= 9535906 |doi=
*cite journal | author=Tait D, Riccio M, Sittler A, "et al." |title=Ataxin-3 is transported into the nucleus and associates with the nuclear matrix. |journal=Hum. Mol. Genet. |volume=7 |issue= 6 |pages= 991–7 |year= 1998 |pmid= 9580663 |doi=
*cite journal | author=Wang G, Sawai N, Kotliarova S, "et al." |title=Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B. |journal=Hum. Mol. Genet. |volume=9 |issue= 12 |pages= 1795–803 |year= 2000 |pmid= 10915768 |doi=
*cite journal | author=Ichikawa Y, Goto J, Hattori M, "et al." |title=The genomic structure and expression of MJD, the Machado-Joseph disease gene. |journal=J. Hum. Genet. |volume=46 |issue= 7 |pages= 413–22 |year= 2001 |pmid= 11450850 |doi=
*cite journal | author=Chai Y, Shao J, Miller VM, "et al." |title=Live-cell imaging reveals divergent intracellular dynamics of polyglutamine disease proteins and supports a sequestration model of pathogenesis. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 14 |pages= 9310–5 |year= 2002 |pmid= 12084819 |doi= 10.1073/pnas.152101299
*cite journal | author=Yoshida H, Yoshizawa T, Shibasaki F, "et al." |title=Chemical chaperones reduce aggregate formation and cell death caused by the truncated Machado-Joseph disease gene product with an expanded polyglutamine stretch. |journal=Neurobiol. Dis. |volume=10 |issue= 2 |pages= 88–99 |year= 2002 |pmid= 12127147 |doi=
*cite journal | author=Li F, Macfarlan T, Pittman RN, Chakravarti D |title=Ataxin-3 is a histone-binding protein with two independent transcriptional corepressor activities. |journal=J. Biol. Chem. |volume=277 |issue= 47 |pages= 45004–12 |year= 2003 |pmid= 12297501 |doi= 10.1074/jbc.M205259200
*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=Albrecht M, Hoffmann D, Evert BO, "et al." |title=Structural modeling of ataxin-3 reveals distant homology to adaptins. |journal=Proteins |volume=50 |issue= 2 |pages= 355–70 |year= 2003 |pmid= 12486728 |doi= 10.1002/prot.10280
*cite journal | author=Marchal S, Shehi E, Harricane MC, "et al." |title=Structural instability and fibrillar aggregation of non-expanded human ataxin-3 revealed under high pressure and temperature. |journal=J. Biol. Chem. |volume=278 |issue= 34 |pages= 31554–63 |year= 2003 |pmid= 12766160 |doi= 10.1074/jbc.M304205200

PBB_Controls
update_page = yes
require_manual_inspection = no
update_protein_box = yes
update_summary = yes
update_citations = yes