ATXN10

Ataxin 10, also known as ATXN10, is a human gene.cite web | title = Entrez Gene: ATXN10 ataxin 10| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25814| accessdate = ]

PBB_Summary
section_title =
summary_text = The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes. [supplied by OMIM] cite web | title = Entrez Gene: ATXN10 ataxin 10| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=25814| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Harding AE |title=Clinical features and classification of inherited ataxias. |journal=Advances in neurology |volume=61 |issue= |pages= 1–14 |year= 1993 |pmid= 8421960 |doi=
*cite journal | author=Ashizawa T, Matsuura T |title= [Spinocerebellar ataxia type 10 (SCA10): a disease caused by a novel pentanucleotide repeat expansion] |journal=Rinsho Shinkeigaku |volume=41 |issue= 12 |pages= 1120–2 |year= 2002 |pmid= 12235814 |doi=
*cite journal | author=Grewal RP, Tayag E, Figueroa KP, "et al." |title=Clinical and genetic analysis of a distinct autosomal dominant spinocerebellar ataxia. |journal=Neurology |volume=51 |issue= 5 |pages= 1423–6 |year= 1998 |pmid= 9818872 |doi=
*cite journal | author=Zu L, Figueroa KP, Grewal R, Pulst SM |title=Mapping of a new autosomal dominant spinocerebellar ataxia to chromosome 22. |journal=Am. J. Hum. Genet. |volume=64 |issue= 2 |pages= 594–9 |year= 1999 |pmid= 9973298 |doi=
*cite journal | author=Dunham I, Shimizu N, Roe BA, "et al." |title=The DNA sequence of human chromosome 22. |journal=Nature |volume=402 |issue= 6761 |pages= 489–95 |year= 1999 |pmid= 10591208 |doi= 10.1038/990031
*cite journal | author=Matsuura T, Yamagata T, Burgess DL, "et al." |title=Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. |journal=Nat. Genet. |volume=26 |issue= 2 |pages= 191–4 |year= 2000 |pmid= 11017075 |doi= 10.1038/79911
*cite journal | author=Wiemann S, Weil B, Wellenreuther R, "et al." |title=Toward a catalog of human genes and proteins: sequencing and analysis of 500 novel complete protein coding human cDNAs. |journal=Genome Res. |volume=11 |issue= 3 |pages= 422–35 |year= 2001 |pmid= 11230166 |doi= 10.1101/gr.154701
*cite journal | author=Simpson JC, Wellenreuther R, Poustka A, "et al." |title=Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing. |journal=EMBO Rep. |volume=1 |issue= 3 |pages= 287–92 |year= 2001 |pmid= 11256614 |doi= 10.1093/embo-reports/kvd058
*cite journal | author=Fujigasaki H, Tardieu S, Camuzat A, "et al." |title=Spinocerebellar ataxia type 10 in the French population. |journal=Ann. Neurol. |volume=51 |issue= 3 |pages= 408–9 |year= 2002 |pmid= 11891842 |doi=
*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=Matsuura T, Fang P, Lin X, "et al." |title=Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. |journal=Am. J. Hum. Genet. |volume=74 |issue= 6 |pages= 1216–24 |year= 2004 |pmid= 15127363 |doi= 10.1086/421526
*cite journal | author=Collins JE, Wright CL, Edwards CA, "et al." |title=A genome annotation-driven approach to cloning the human ORFeome. |journal=Genome Biol. |volume=5 |issue= 10 |pages= R84 |year= 2005 |pmid= 15461802 |doi= 10.1186/gb-2004-5-10-r84
*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=Matsuura T, Fang P, Pearson CE, "et al." |title=Interruptions in the expanded ATTCT repeat of spinocerebellar ataxia type 10: repeat purity as a disease modifier? |journal=Am. J. Hum. Genet. |volume=78 |issue= 1 |pages= 125–9 |year= 2006 |pmid= 16385455 |doi= 10.1086/498654
*cite journal | author=Waragai M, Nagamitsu S, Xu W, "et al." |title=Ataxin 10 induces neuritogenesis via interaction with G-protein beta2 subunit. |journal=J. Neurosci. Res. |volume=83 |issue= 7 |pages= 1170–8 |year= 2006 |pmid= 16498633 |doi= 10.1002/jnr.20807
*cite journal | author=Ewing RM, Chu P, Elisma F, "et al." |title=Large-scale mapping of human protein-protein interactions by mass spectrometry. |journal=Mol. Syst. Biol. |volume=3 |issue= |pages= 89 |year= 2007 |pmid= 17353931 |doi= 10.1038/msb4100134

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