Jump to content

Ataxin 7: Difference between revisions

From Wikipedia, the free encyclopedia
Browse history interactively
← Previous edit
Content deleted Content added
VisualWikitext
m [Pu405]Tweak: title. You can use this bot yourself. Report bugs here.
Added the cs1 style template to denote Vancouver ("vanc") citation style, because references contain "vauthors" attribute to specify the list of authors. Added publisher. | Use this tool. Report bugs. | #UCB_Gadget
 
(24 intermediate revisions by 15 users not shown)
Line 1: Line 1:
{{Short description|Mammalian protein found in Homo sapiens}}
⚫
{{protein
{{cs1 config|name-list-style=vanc|display-authors=6}}
⚫
{{infobox protein
| Name = ataxin 7
| Name = ataxin 7
| caption =
| caption =
Line 18: Line 20:
| LocusSupplementaryData = -p12
| LocusSupplementaryData = -p12
}}
}}
'''Ataxin 7 (ATXN7)''' is a [[protein]] of the SCA7 gene, which contains 892 amino acids with an expandable poly(Q) region close to the [[N-terminus]]. The expandable poly(Q) motif region in the protein contributes crucially to [[spinocerebellar ataxia]] (SCA) pathogenesis by the induction of intranuclear [[inclusion bodies]].<ref>{{cite journal | vauthors = Scheel H, Tomiuk S, Hofmann K | title = Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics | journal = Human Molecular Genetics | volume = 12 | issue = 21 | pages = 2845–2852 | date = November 2003 | pmid = 12944423 | doi = 10.1093/hmg/ddg297 | doi-access = free }}</ref> ATXN7 is associated with both [[olivopontocerebellar atrophy]] type 3 (OPCA3) and [[spinocerebellar ataxia]] type 7 (SCA7).
'''Ataxin 7''' is a [[protein]] associated with both [[olivopontocerebellar atrophy]] type 3 (OPCA3) and [[spinocerebellar ataxia]] type 7 (SCA7).


[[CAG repeat]] leads to pathological protein misfolding. In ataxin-7 gene has shown to cause cerebellar and brainstem degeneration as well as retinal [[Cone dystrophy|conerod dystrophy]]. Polyglutamine (polyQ) expansion at the N-terminus of ataxin-7 causes protein aggregation, leading to the symptoms of ataxia with visual loss.<ref>{{Cite book|title=The molecular and cellular basis of neurodegenerative diseases: underlying mechanisms| veditors = Wolfe MS |date = 18 April 2018|isbn=978-0-12-811304-2|oclc=1040033113| last1 = Wolfe | first1 = Michael S. | publisher = Elsevier Science }}</ref>
⚫
==External links==

⚫
* [http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sca7 GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 7]
Research suggest that silencing of ataxin-7 in the retina by [[RNAi]] can be a possible therapeutic strategy for patients with SCA7 retinal degeneration.<ref>{{cite journal | vauthors = Ramachandran PS, Bhattarai S, Singh P, Boudreau RL, Thompson S, Laspada AR, Drack AV, Davidson BL | title = RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration | journal = PLOS ONE | volume = 9 | issue = 4 | pages = e95362 | date = 2014 | pmid = 24759684 | pmc = 3997397 | doi = 10.1371/journal.pone.0095362 | doi-access = free | bibcode = 2014PLoSO...995362R }}</ref>

== References ==
{{Reflist}}

==Further reading ==
{{refbegin}}
⚫
* {{cite journal | vauthors = Janer A, Martin E, Muriel MP, Latouche M, Fujigasaki H, Ruberg M, Brice A, Trottier Y, Sittler A | title = PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins | journal = The Journal of Cell Biology | volume = 174 | issue = 1 | pages = 65–76 | date = July 2006 | pmid = 16818720 | pmc = 2064165 | doi = 10.1083/jcb.200511045 }}
⚫
* {{cite journal | vauthors = Helmlinger D, Hardy S, Eberlin A, Devys D, Tora L | title = Both normal and polyglutamine- expanded ataxin-7 are components of TFTC-type GCN5 histone acetyltransferase- containing complexes | journal = Biochemical Society Symposium | volume = 73 | issue = 73 | pages = 155–163 | year = 2006 | pmid = 16626296 | doi = 10.1042/bss0730155 }}
⚫
* {{cite journal | vauthors = Wang HL, Yeh TH, Chou AH, Kuo YL, Luo LJ, He CY, Huang PC, Li AH | title = Polyglutamine-expanded ataxin-7 activates mitochondrial apoptotic pathway of cerebellar neurons by upregulating Bax and downregulating Bcl-x(L) | journal = Cellular Signalling | volume = 18 | issue = 4 | pages = 541–552 | date = April 2006 | pmid = 15964171 | doi = 10.1016/j.cellsig.2005.05.024 }}
⚫
* {{cite journal | vauthors = Ansorge O, Giunti P, Michalik A, Van Broeckhoven C, Harding B, Wood N, Scaravilli F | title = Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats | journal = Annals of Neurology | volume = 56 | issue = 3 | pages = 448–452 | date = September 2004 | pmid = 15349877 | doi = 10.1002/ana.20230 | s2cid = 8148133 }}
⚫
* {{cite journal | vauthors = Helmlinger D, Hardy S, Sasorith S, Klein F, Robert F, Weber C, Miguet L, Potier N, Van-Dorsselaer A, Wurtz JM, Mandel JL, Tora L, Devys D | title = Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes | journal = Human Molecular Genetics | volume = 13 | issue = 12 | pages = 1257–1265 | date = June 2004 | pmid = 15115762 | doi = 10.1093/hmg/ddh139 | doi-access = free }}
{{refend}}

⚫
== External links ==
⚫
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=sca7 GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 7]
* {{MeshName|ataxin-7}}
* {{MeshName|ataxin-7}}
* {{OMIM|164500}}
* {{OMIM|164500}}

⚫
* {{cite journal | author = Janer A, Martin E, Muriel M, Latouche M, Fujigasaki H, Ruberg M, Brice A, Trottier Y, Sittler A | title = PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins | journal = J Cell Biol | volume = 174 | issue = 1 | pages = 65–76 | year = 2006 | pmid = 16818720 | doi = 10.1083/jcb.200511045 | pmc = 2064165}}
⚫
{{Nucleus}}
⚫
* {{cite journal | author = Helmlinger D, Hardy S, Eberlin A, Devys D, Tora L | title = Both normal and polyglutamine- expanded ataxin-7 are components of TFTC-type GCN5 histone acetyltransferase- containing complexes | journal = Biochem Soc Symp | volume = | issue = 73| pages = 155–63 | year = 2006 | pmid = 16626296}}
⚫
* {{cite journal | author = Wang H, Yeh T, Chou A, Kuo Y, Luo L, He C, Huang P, Li A | title = Polyglutamine-expanded ataxin-7 activates mitochondrial apoptotic pathway of cerebellar neurons by upregulating Bax and downregulating Bcl-x(L) | journal = Cell Signal | volume = 18 | issue = 4 | pages = 541–52 | year = 2006 | pmid = 15964171 | doi = 10.1016/j.cellsig.2005.05.024}}
⚫
* {{cite journal | author = Ansorge O, Giunti P, Michalik A, Van Broeckhoven C, Harding B, Wood N, Scaravilli F | title = Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats | journal = Ann Neurol | volume = 56 | issue = 3 | pages = 448–52 | year = 2004 | pmid = 15349877 | doi = 10.1002/ana.20230}}
⚫
* {{cite journal | author = Helmlinger D, Hardy S, Sasorith S, Klein F, Robert F, Weber C, Miguet L, Potier N, Van-Dorsselaer A, Wurtz J, Mandel J, Tora L, Devys D | title = Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes | journal = Hum Mol Genet | volume = 13 | issue = 12 | pages = 1257–65 | year = 2004 | pmid = 15115762 | doi = 10.1093/hmg/ddh139}}


[[Category:Proteins]]
[[Category:Proteins]]




{{biochem-stub}}
{{protein-stub}}
⚫
{{Nucleus}}

Latest revision as of 20:31, 11 March 2024

ataxin 7
Identifiers
SymbolATXN7
Alt. symbolsSCA7
NCBI gene6314
HGNC10560
OMIM607640
RefSeqNM_000333
UniProtO15265
Other data
LocusChr. 3 p21.1-p12
Search for
StructuresSwiss-model
DomainsInterPro

Ataxin 7 (ATXN7) is a protein of the SCA7 gene, which contains 892 amino acids with an expandable poly(Q) region close to the N-terminus. The expandable poly(Q) motif region in the protein contributes crucially to spinocerebellar ataxia (SCA) pathogenesis by the induction of intranuclear inclusion bodies.[1] ATXN7 is associated with both olivopontocerebellar atrophy type 3 (OPCA3) and spinocerebellar ataxia type 7 (SCA7).

CAG repeat leads to pathological protein misfolding. In ataxin-7 gene has shown to cause cerebellar and brainstem degeneration as well as retinal conerod dystrophy. Polyglutamine (polyQ) expansion at the N-terminus of ataxin-7 causes protein aggregation, leading to the symptoms of ataxia with visual loss.[2]

Research suggest that silencing of ataxin-7 in the retina by RNAi can be a possible therapeutic strategy for patients with SCA7 retinal degeneration.[3]

References

[edit]
  1. ^ Scheel H, Tomiuk S, Hofmann K (November 2003). "Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics". Human Molecular Genetics. 12 (21): 2845–2852. doi:10.1093/hmg/ddg297. PMID 12944423.
  2. ^ Wolfe MS (18 April 2018). Wolfe MS (ed.). The molecular and cellular basis of neurodegenerative diseases: underlying mechanisms. Elsevier Science. ISBN 978-0-12-811304-2. OCLC 1040033113.
  3. ^ Ramachandran PS, Bhattarai S, Singh P, Boudreau RL, Thompson S, Laspada AR, et al. (2014). "RNA interference-based therapy for spinocerebellar ataxia type 7 retinal degeneration". PLOS ONE. 9 (4): e95362. Bibcode:2014PLoSO...995362R. doi:10.1371/journal.pone.0095362. PMC 3997397. PMID 24759684.

Further reading

[edit]
[edit]


Stub icon

This protein-related article is a stub. You can help Wikipedia by expanding it.

Retrieved from "https://en.wikipedia.org/w/index.php?title=Ataxin_7&oldid=1213232794"