From Wikipedia, the free encyclopedia
ataxin 7
Identifiers
SymbolATXN7
Alt. symbolsSCA7
NCBI gene 6314
HGNC 10560
OMIM 607640
RefSeq NM_000333
UniProt O15265
Other data
Locus Chr. 3 p21.1-p12
Search for
Structures Swiss-model
Domains InterPro

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

  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


From Wikipedia, the free encyclopedia
ataxin 7
Identifiers
SymbolATXN7
Alt. symbolsSCA7
NCBI gene 6314
HGNC 10560
OMIM 607640
RefSeq NM_000333
UniProt O15265
Other data
Locus Chr. 3 p21.1-p12
Search for
Structures Swiss-model
Domains InterPro

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

  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



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