脊髄小脳変性症7型
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出典(authority):フリー百科事典『ウィキペディア(Wikipedia)』「2015/07/27 11:53:40」(JST)
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ataxin 7 |
Identifiers |
Symbol |
ATXN7 |
Alt. symbols |
SCA7 |
Entrez |
6314 |
HUGO |
10560 |
OMIM |
607640 |
RefSeq |
NM_000333 |
UniProt |
O15265 |
Other data |
Locus |
Chr. 3 p21.1-p12 |
Ataxin 7 is a protein associated with both olivopontocerebellar atrophy type 3 (OPCA3) and spinocerebellar ataxia type 7 (SCA7).
External links
- GeneReviews/NCBI/NIH/UW entry on Spinocerebellar Ataxia Type 7
- ataxin-7 at the US National Library of Medicine Medical Subject Headings (MeSH)
- Online 'Mendelian Inheritance in Man' (OMIM) 164500
- Janer A, Martin E, Muriel M, Latouche M, Fujigasaki H, Ruberg M, Brice A, Trottier Y, Sittler A (2006). "PML clastosomes prevent nuclear accumulation of mutant ataxin-7 and other polyglutamine proteins". J Cell Biol 174 (1): 65–76. doi:10.1083/jcb.200511045. PMC 2064165. PMID 16818720.
- Helmlinger D, Hardy S, Eberlin A, Devys D, Tora L (2006). "Both normal and polyglutamine- expanded ataxin-7 are components of TFTC-type GCN5 histone acetyltransferase- containing complexes". Biochem Soc Symp (73): 155–63. PMID 16626296.
- Wang H, Yeh T, Chou A, Kuo Y, Luo L, He C, Huang P, Li A (2006). "Polyglutamine-expanded ataxin-7 activates mitochondrial apoptotic pathway of cerebellar neurons by upregulating Bax and downregulating Bcl-x(L)". Cell Signal 18 (4): 541–52. doi:10.1016/j.cellsig.2005.05.024. PMID 15964171.
- Ansorge O, Giunti P, Michalik A, Van Broeckhoven C, Harding B, Wood N, Scaravilli F (2004). "Ataxin-7 aggregation and ubiquitination in infantile SCA7 with 180 CAG repeats". Ann Neurol 56 (3): 448–52. doi:10.1002/ana.20230. PMID 15349877.
- 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 (2004). "Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes". Hum Mol Genet 13 (12): 1257–65. doi:10.1093/hmg/ddh139. PMID 15115762.
Structures of the cell nucleus / nuclear protein
|
|
Envelope (membrane)/
nuclear lamina |
- Pore complex:
- Nucleoporin
- NUP35
- NUP37
- NUP43
- NUP50
- NUP54
- NUP62
- NUP85
- NUP88
- NUP93
- NUP98
- NUP107
- NUP133
- NUP153
- NUP155
- NUP160
- NUP188
- NUP205
- NUP210
- NUP214
- AAAS
|
|
Nucleolus |
- Cajal (coiled) body
- GEMIN4
- GEMIN5
- GEMIN6
- GEMIN7
- GEMIN8
- SMN/SIP1
- COIL
- Perinucleolar compartment
- TCOF
- ATXN7
|
|
Other |
- Chromatin
- Dot (PML body)
- Paraspeckle
|
|
SMC protein: |
- Cohesin
- Condensin
- NCAPD2
- NCAPD3
- NCAPG
- NCAPG2
- NCAPH
- NCAPH2
- SMC2
- SMC4
- DNA repair
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Transition nuclear protein: |
|
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- Nuclear matrix (Nucleoskeleton)
- Nucleoplasm
- Nucleosol
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- see also transcription factors and intracellular receptors
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|
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see also nucleus diseases
Index of cells
|
|
Description |
- Structure
- Organelles
- peroxisome
- cytoskeleton
- centrosome
- epithelia
- cilia
- mitochondria
- Membranes
- Membrane transport
- ion channels
- vesicular transport
- solute carrier
- ABC transporters
- ATPase
- oxidoreduction-driven
|
|
Disease |
- Structural
- peroxisome
- cytoskeleton
- cilia
- mitochondria
- nucleus
- scleroprotein
- Membrane
- channelopathy
- solute carrier
- ATPase
- ABC transporters
- other
- extracellular ligands
- cell surface receptors
- intracellular signalling
- Vesicular transport
- Pore-forming toxins
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UpToDate Contents
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English Journal
- Investigation of SCA10 in the Cypriot population: Further exclusion of SCA dynamic repeat mutations.
- Votsi C, Zamba-Papanicolaou E, Georghiou A, Kyriakides T, Papacostas S, Kleopa KA, Pantzaris M, Christodoulou K.SourceNeurogenetics Department, The Cyprus Institute of Neurology and Genetics, 6 International Airport Avenue, Nicosia, Cyprus.
- Journal of the neurological sciences.J Neurol Sci.2012 Dec 15;323(1-2):154-7. doi: 10.1016/j.jns.2012.09.006. Epub 2012 Sep 29.
- Autosomal dominant cerebellar ataxias (ADCAs) encompass a heterogeneous group of rare diseases that affect the cerebellum and its connections. The most common forms have been associated with dynamic mutations while some rarer forms with conventional mutations. Studies in different populations reveal
- PMID 23026538
- Spinocerebellar ataxia type 1 (SCA1): new pathoanatomical and clinico-pathological insights.
- Rüb U, Bürk K, Timmann D, den Dunnen W, Seidel K, Farrag K, Brunt E, Heinsen H, Egensperger R, Bornemann A, Schwarzacher S, Korf HW, Schöls L, Bohl J, Deller T.SourceInstitute of Clinical Neuroanatomy, Dr. Senckenberg Anatomy, Goethe-University Dr. Senckenberg Chronomedical Institute, Goethe-University, Frankfurt/Main Department of Neurology, Philipps-University of Marburg, Marburg Department of Neurology, University of Duisburg-Essen, Essen Morphological Brain Research Unit, Psychiatric Clinic, Julius Maximilians University Würzburg, Würzburg Center for Neuropathology and Prion Research, Ludwigs Maximilians University Munich, München Institute of Brain Research, University of Tübingen Center of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen German Center of Neurodegenerative Diseases (DZNE), University of Tübingen, Tübingen Neuropathology Division, University Clinic of Mainz, Mainz, Germany Department of Pathology and Medical Biology, University Medical Center Groningen, University of Groningen Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.
- Neuropathology and applied neurobiology.Neuropathol Appl Neurobiol.2012 Dec;38(7):665-680. doi: 10.1111/j.1365-2990.2012.01259.x.
- U. Rüb, K. Bürk, D. Timmann, W. den Dunnen, K. Seidel, K. Farrag, E. Brunt, H. Heinsen, R. Egensperger, A. Bornemann, S. Schwarzacher, H.-W. Korf, L. Schöls, J. Bohl and T. Deller (2012) Neuropathology and Applied Neurobiology 38, 665-680 Spinocerebellar ataxia type 1 (SCA1): new pathoanatomical
- PMID 22309224
Japanese Journal
- その他のポリグルタミン病 : SCA1,SCA2,SCA7,SCA17 (特集 脊髄小脳変性症(SCD)のUp-To-Date) -- (常染色体優性遺伝性SCD)
- Spinocerebellar Ataxia Type 7: Report of a New Italian Family
- Italiano Domenico,Tarantino Patrizia,Valeria De Marco Elvira,Salvatore Calabrò Rocco,Bramanti Placido,Quattrone Aldo,Annesi Grazia
- Internal Medicine 51(20), 2012
- … Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder characterized by degeneration of the cerebellum, brainstem and retina. … A molecular analysis identified 38 cytosine-adenine-guanine (CAG) repeat expansions within the SCA7 gene. … Our study confirms the marked anticipation previously observed in SCA7 and extends the small number of patients studied thus far. …
- NAID 130002062092
- Unusual Retinal Phenotypes in an SCA7 Family
- Inaba Hirofumi,Yabe Ichiro,Yashima Moemi,Soma Hiroyuki,Nakamura Yasushi,Houzen Hideki,Sasaki Hidenao
- Internal Medicine 48(16), 2009
- … We report the cases of a father and his son with spinocerebellar ataxia type 7 (SCA7), a disorder rarely reported in Japan. … He was diagnosed with SCA7 by genetic analysis. … His ophthalmologic examination showed retinal degeneration without pigmented spots, which is different from those of retinal phenotypes previously described in SCA7. …
- NAID 130000122034
Related Links
- 詳細の表示を試みましたが、サイトのオーナーによって制限されているため表示できません。
- 164500 - SPINOCEREBELLAR ATAXIA 7; SCA7 - OLIVOPONTOCEREBELLAR ATROPHY III; OPCA3;; OPCA III;; OPCA WITH RETINAL DEGENERATION;; OPCA WITH MACULAR DEGENERATION AND EXTERNAL ...
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