ATXN7

Summary

Gene Symbol: ATXN7
Description: ataxin 7
Alias: ADCAII, OPCA3, SCA7, ataxin-7, spinocerebellar ataxia type 7 protein
Species: human
Products:     ATXN7

Top Publications

  1. Benomar A, Krols L, Stevanin G, Cancel G, LeGuern E, David G, et al. The gene for autosomal dominant cerebellar ataxia with pigmentary macular dystrophy maps to chromosome 3p12-p21.1. Nat Genet. 1995;10:84-8 pubmed
    ..Our results show that ADCA type II is a genetically homogenous disorder, independent of the heterogeneous group of type I cerebellar ataxias. ..
  2. Stevanin G, Durr A, Brice A. Clinical and molecular advances in autosomal dominant cerebellar ataxias: from genotype to phenotype and physiopathology. Eur J Hum Genet. 2000;8:4-18 pubmed
    ..The combined genetic and clinical information form the basis of a new classification that will aid better understanding of disease evolution, assure follow up and permit genetic counselling by the clinician. ..
  3. Zander C, Takahashi J, El Hachimi K, Fujigasaki H, Albanese V, Lebre A, et al. Similarities between spinocerebellar ataxia type 7 (SCA7) cell models and human brain: proteins recruited in inclusions and activation of caspase-3. Hum Mol Genet. 2001;10:2569-79 pubmed
    Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant polyglutamine disorder presenting with progressive cerebellar ataxia and blindness. The molecular mechanisms underlying the selective neuronal death typical of SCA7 are unknown...
  4. Jonasson J, Strom A, Hart P, Brannstrom T, Forsgren L, Holmberg M. Expression of ataxin-7 in CNS and non-CNS tissue of normal and SCA7 individuals. Acta Neuropathol. 2002;104:29-37 pubmed
    Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder primarily affecting the cerebellum, brain stem and retina. The disease is caused by an expanded polyglutamine tract in the protein ataxin-7...
  5. Palhan V, Chen S, Peng G, Tjernberg A, Gamper A, Fan Y, et al. Polyglutamine-expanded ataxin-7 inhibits STAGA histone acetyltransferase activity to produce retinal degeneration. Proc Natl Acad Sci U S A. 2005;102:8472-7 pubmed
    Spinocerebellar ataxia type 7 (SCA7) is characterized by cone-rod dystrophy retinal degeneration and is caused by a polyglutamine [poly(Q)] expansion within ataxin-7, a protein of previously unknown function...
  6. Helmlinger D, Hardy S, Abou Sleymane G, Eberlin A, Bowman A, Gansmuller A, et al. Glutamine-expanded ataxin-7 alters TFTC/STAGA recruitment and chromatin structure leading to photoreceptor dysfunction. PLoS Biol. 2006;4:e67 pubmed
    ..We previously demonstrated that the SCA7 gene product, ataxin-7 (ATXN7), is a subunit of the GCN5 histone acetyltransferase-containing coactivator complexes TFTC/STAGA...
  7. Greenberg J, Solomon G, Vorster A, Heckmann J, Bryer A. Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics. Clin Genet. 2006;70:415-7 pubmed
  8. Scholefield J, Greenberg L, Weinberg M, Arbuthnot P, Abdelgany A, Wood M. Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype. PLoS ONE. 2009;4:e7232 pubmed publisher
  9. David G, Abbas N, Stevanin G, Durr A, Yvert G, Cancel G, et al. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat Genet. 1997;17:65-70 pubmed
    The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromosome 3p12-13. By positional cloning, we have identified a new gene of unknown function containing a CAG repeat that is expanded in SCA7 patients...

More Information

Publications138 found, 100 shown here

  1. Del Favero J, Krols L, Michalik A, Theuns J, Lofgren A, Goossens D, et al. Molecular genetic analysis of autosomal dominant cerebellar ataxia with retinal degeneration (ADCA type II) caused by CAG triplet repeat expansion. Hum Mol Genet. 1998;7:177-86 pubmed
    Autosomal dominant cerebellar ataxia with retinal degeneration (ADCAII) was previously mapped by linkage analysis studies to chromosome 3p12-p21.1 (SCA7)...
  2. La Spada A, Fu Y, Sopher B, Libby R, Wang X, Li L, et al. Polyglutamine-expanded ataxin-7 antagonizes CRX function and induces cone-rod dystrophy in a mouse model of SCA7. Neuron. 2001;31:913-27 pubmed
    Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disorder caused by a CAG repeat expansion. To determine the mechanism of neurotoxicity, we produced transgenic mice and observed a cone-rod dystrophy...
  3. Scheel H, Tomiuk S, Hofmann K. Elucidation of ataxin-3 and ataxin-7 function by integrative bioinformatics. Hum Mol Genet. 2003;12:2845-52 pubmed
    ..For ataxin-7, the gene product of the SCA7 gene, we have identified an orthology relationship to the yeast open reading frame Ygl066c...
  4. Whitney A, Lim M, Kanabar D, Lin J. Massive SCA7 expansion detected in a 7-month-old male with hypotonia, cardiomegaly, and renal compromise. Dev Med Child Neurol. 2007;49:140-3 pubmed
    Infantile spinocerebellar ataxia type 7 (SCA7) is phenotypically different from the child-onset and adult-onset cases, presenting as a multisystem disorder associated with pathologically large CAG trinucleotide repeat sequences...
  5. Mookerjee S, Papanikolaou T, Guyenet S, Sampath V, Lin A, Vitelli C, et al. Posttranslational modification of ataxin-7 at lysine 257 prevents autophagy-mediated turnover of an N-terminal caspase-7 cleavage fragment. J Neurosci. 2009;29:15134-44 pubmed publisher
    ..and TRRAP) chromatin remodeling complexes, causes the neurodegenerative disease spinocerebellar ataxia type 7 (SCA7)...
  6. Yu X, Ajayi A, Boga N, Strom A. Differential degradation of full-length and cleaved ataxin-7 fragments in a novel stable inducible SCA7 model. J Mol Neurosci. 2012;47:219-33 pubmed publisher
    ..In this study, we show that full-length and cleaved fragments of the SCA7 disease protein ataxin-7 (ATXN7) are differentially degraded...
  7. Helmlinger D, Hardy S, Sasorith S, Klein F, Robert F, Weber C, et al. Ataxin-7 is a subunit of GCN5 histone acetyltransferase-containing complexes. Hum Mol Genet. 2004;13:1257-65 pubmed
    Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder caused by a CAG repeat expansion in the SCA7 gene leading to elongation of a polyglutamine tract in ataxin-7, a protein of unknown function...
  8. Strom A, Forsgren L, Holmberg M. A role for both wild-type and expanded ataxin-7 in transcriptional regulation. Neurobiol Dis. 2005;20:646-55 pubmed
    Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disease primarily affecting the brainstem, retina and Purkinje cells of the cerebellum...
  9. Adanyeguh I, Perlbarg V, Henry P, Rinaldi D, Petit E, Valabregue R, et al. Autosomal dominant cerebellar ataxias: Imaging biomarkers with high effect sizes. Neuroimage Clin. 2018;19:858-867 pubmed publisher
    ..a unique cohort of patients with SCA1 (n = 15), SCA2 (n = 12), SCA3 (n = 20) and SCA7 (n = 10) and 24 healthy controls of similar age, sex and body mass index...
  10. Borgonio Cuadra V, Valdez Vargas C, Romero Córdoba S, Hidalgo Miranda A, Tapia Guerrero Y, Cerecedo Zapata C, et al. Wide Profiling of Circulating MicroRNAs in Spinocerebellar Ataxia Type 7. Mol Neurobiol. 2019;: pubmed publisher
    ..disease characterized by cerebellar ataxia and retinal degeneration, is caused by a CAG repeat expansion in the ATXN7 gene coding region...
  11. Klaes A, Reckziegel E, França M, Rezende T, Vedolin L, Jardim L, et al. MR Imaging in Spinocerebellar Ataxias: A Systematic Review. AJNR Am J Neuroradiol. 2016;37:1405-12 pubmed publisher
    ..reviewing the 706 results, 18 studies were suitable for inclusion: 2 studies in SCA1, 1 in SCA2, 15 in SCA3, 1 in SCA7, 1 in SCA1 and SCA6 presymptomatic carriers, and none in SCA17 and dentatorubropallidoluysian atrophy...
  12. Ward J, Stoyas C, Switonski P, Ichou F, Fan W, Collins B, et al. Metabolic and Organelle Morphology Defects in Mice and Human Patients Define Spinocerebellar Ataxia Type 7 as a Mitochondrial Disease. Cell Rep. 2019;26:1189-1202.e6 pubmed publisher
    Spinocerebellar ataxia type 7 (SCA7) is a retinal-cerebellar degenerative disorder caused by CAG-polyglutamine (polyQ) repeat expansions in the ataxin-7 gene...
  13. Okumura A, Yamamoto T, Miyajima M, Shimojima K, Kondo S, Abe S, et al. 3p interstitial deletion including PRICKLE2 in identical twins with autistic features. Pediatr Neurol. 2014;51:730-3 pubmed publisher
    ..17 genes, five of which are known or presumed to be related to central nervous system disorders: FEZF2, SYNPR, ATXN7, PRICKLE2, and MAGI1...
  14. Lebon C, Behar Cohen F, Torriglia A. Cell Death Mechanisms in a Mouse Model of Retinal Degeneration in Spinocerebellar Ataxia 7. Neuroscience. 2019;400:72-84 pubmed publisher
    Spino-cerebellar ataxia type 7 (SCA7) is a polyglutamine (polyQ) disorder characterized by neurodegeneration of the brain, cerebellum, and retina caused by a polyglutamine expansion in ataxin7...
  15. Tercero Pérez K, Cortes H, Torres Ramos Y, Rodríguez Labrada R, Cerecedo Zapata C, Hernandez Hernandez O, et al. Effects of Physical Rehabilitation in Patients with Spinocerebellar Ataxia Type 7. Cerebellum. 2019;: pubmed publisher
    ..neurorehabilitation on the clinical and biochemical features of patients with spinocerebellar ataxia type 7 (SCA7) in 18 patients diagnosed with SCA7...
  16. Han Y, Deng B, Liu M, Jiang J, Wu S, Guan Y. Clinical and genetic study of a Chinese family with spinocerebellar ataxia type 7. Neurol India. 2010;58:622-6 pubmed publisher
    Spinocerebellar ataxia 7 (SCA7) is a rare disease, and only few SCA7 families have been reported, especially from East Asia. Clinical features of a genetically confirmed SCA7 Chinese family were evaluated...
  17. Vázquez N, Rocha S, López Fernández H, Torres A, Camacho R, Fdez Riverola F, et al. EvoPPI 1.0: a Web Platform for Within- and Between-Species Multiple Interactome Comparisons and Application to Nine PolyQ Proteins Determining Neurodegenerative Diseases. Interdiscip Sci. 2019;11:45-56 pubmed publisher
    ..proteins, namely androgen receptor (AR), atrophin-1 (ATN1), ataxin 1 (ATXN1), ataxin 2 (ATXN2), ataxin 3 (ATXN3), ataxin 7 (ATXN7), calcium voltage-gated channel subunit alpha1 A (CACNA1A), Huntingtin (HTT), and TATA-binding protein (..
  18. Rezende Filho F, Vale T, Pedroso J, Braga Neto P, Barsottini O. Facial grimacing and clinical correlates in spinocerebellar ataxia type 3. J Neurol Sci. 2019;397:138-140 pubmed publisher
    ..We evaluated 104 patients with SCA (59 patients with SCA3, 20 with SCA2, 20 with SCA7 and 5 with SCA6) and assessed dystonia frequency and types...
  19. Niu C, Prakash T, Kim A, Quach J, Huryn L, Yang Y, et al. Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7. Sci Transl Med. 2018;10: pubmed publisher
    Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by cerebellar and retinal degeneration, and is caused by a CAG-polyglutamine repeat expansion in the ATAXIN-7 gene...
  20. Marinello M, Werner A, Giannone M, Tahiri K, Alves S, Tesson C, et al. SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models. Dis Model Mech. 2019;12: pubmed publisher
    ..disease spinocerebellar ataxia type 7 (SCA7) is the intranuclear accumulation of mutant, misfolded ataxin-7 (polyQ-ATXN7)...
  21. Karam A, Trottier Y. Molecular Mechanisms and Therapeutic Strategies in Spinocerebellar Ataxia Type 7. Adv Exp Med Biol. 2018;1049:197-218 pubmed publisher
    ..The pathology is caused by an unstable CAG repeat expansion coding for a polyQ stretch in Ataxin-7 (ATXN7)...
  22. Campos Romo A, Graue Hernandez E, Pedro Aguilar L, Hernandez Camarena J, Rivera De la Parra D, Galvez V, et al. Ophthalmic features of spinocerebellar ataxia type 7. Eye (Lond). 2018;32:120-127 pubmed publisher
    PurposeTo analyze the relation between ophthalmologic and motor changes in spinocerebellar ataxia type 7 (SCA7).Patients and methodsThis was a case series study...
  23. Hernandez Castillo C, King M, Diedrichsen J, Fernandez Ruiz J. Unique degeneration signatures in the cerebellar cortex for spinocerebellar ataxias 2, 3, and 7. Neuroimage Clin. 2018;20:931-938 pubmed publisher
    ..characterization of the spatial degeneration patterns for three polyQ SCAs (55 patients, either SCA2, SCA3, or SCA7) while controlling for the severity of the degeneration pattern...
  24. Clark L, Ye X, Liu X, Mirzozoda K, Louis E. Genetic analysis of ten common degenerative hereditary ataxia loci in patients with essential tremor. Parkinsonism Relat Disord. 2015;21:943-7 pubmed publisher
    ..These genes were spinocerebellar ataxia (SCA)-1 (ATXN1), SCA-2 (ATXN2), SCA-3 (ATXN3), SCA-6 (CACNA1A), SCA-7 (ATXN7), SCA-8 (ATXN8OS), SCA-10 (ATXN10), SCA-12 (PPP2R2B), SCA-17 (TBP) and dentatorubral-pallidolysian atrophy (DRPLA) ..
  25. Vijayalingam S, Subramanian T, Zhao L, Chinnadurai G. The Cellular Protein Complex Associated with a Transforming Region of E1A Contains c-MYC. J Virol. 2016;90:1070-9 pubmed publisher
    ..The same E1A region additionally interacted with the constituents of a deubiquitinase complex consisting of USP22, ATXN7, and ATXN7L3 via TRRAP...
  26. Ramachandran S, Haddad D, Li C, Le M, Ling A, So C, et al. The SAGA Deubiquitination Module Promotes DNA Repair and Class Switch Recombination through ATM and DNAPK-Mediated ?H2AX Formation. Cell Rep. 2016;15:1554-1565 pubmed publisher
    ..We carried out a genome-wide screen to identify CSR factors. We found that Usp22, Eny2, and Atxn7, members of the Spt-Ada-Gcn5-acetyltransferase (SAGA) deubiquitination module, are required for deubiquitination ..
  27. Kalvala A, Gao L, Aguila B, Dotts K, Rahman M, Nana Sinkam S, et al. Rad51C-ATXN7 fusion gene expression in colorectal tumors. Mol Cancer. 2016;15:47 pubmed publisher
    ..Next generation sequencing data have previously shown a fusion gene formed between Rad51C and ATXN7 genes in the MCF7 breast cancer cell line...
  28. Giocondo F, Curcio G. Spinocerebellar ataxia: a critical review of cognitive and socio-cognitive deficits. Int J Neurosci. 2018;128:182-191 pubmed publisher
    ..e. SCA1, SCA2, SCA3, SCA6 and SCA7)...
  29. Gardiner S, de Mutsert R, Trompet S, Boogaard M, van Dijk K, Jukema P, et al. Repeat length variations in polyglutamine disease-associated genes affect body mass index. Int J Obes (Lond). 2019;43:440-449 pubmed publisher
    ..CAG) repeat length in the nine known polyglutamine disease-associated genes (ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, HTT, ATN1 and AR) in two large cohorts consisting of 12,457 individuals and analyzed their association with ..
  30. García Velázquez L, Canizales Quinteros S, Romero Hidalgo S, Ochoa Morales A, Martínez Ruano L, Márquez Luna C, et al. Founder effect and ancestral origin of the spinocerebellar ataxia type 7 (SCA7) mutation in Mexican families. Neurogenetics. 2014;15:13-7 pubmed publisher
    Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant disease characterized by progressive cerebellar ataxia and macular degeneration causing progressive blindness. It accounts for 1 to 11...
  31. Zeigelboim B, de Carvalho H, Teive H, Liberalesso P, Jurkiewicz A, da Silva Abdulmassih E, et al. Central auditory processing in patients with spinocerebellar ataxia. Hear Res. 2015;327:235-44 pubmed publisher
    ..3%), 1/8 patients with SCA2 (12.5%), 1/1 patient with SCA4 (100%), 1/1 patient with SCA6 (100%), 1/1 patient with SCA7 (100%), 3/6 patients with SCA10 (50%), and 3/14 patients with an undetermined type of SCA (21.4%)...
  32. Eijkelkamp B, Pederick V, Plumptre C, Harvey R, Hughes C, Paton J, et al. The First Histidine Triad Motif of PhtD Is Critical for Zinc Homeostasis in Streptococcus pneumoniae. Infect Immun. 2016;84:407-15 pubmed publisher
    ..Zinc is acquired via the ATP-binding cassette transporter AdcCB and two zinc-binding proteins, AdcA and AdcAII. We have previously shown that AdcAII is reliant upon the polyhistidine triad (Pht) proteins to aid in zinc ..
  33. Monte T, Pereira F, Reckziegel E, Augustin M, Locks Coelho L, Santos A, et al. Neurological phenotypes in spinocerebellar ataxia type 2: Role of mitochondrial polymorphism A10398G and other risk factors. Parkinsonism Relat Disord. 2017;42:54-60 pubmed publisher
    ..CAG repeats at ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7 and RAI1, and polymorphism A10398G at mtDNA were established...
  34. Cagnoli C, Brussino A, Mancini C, Ferrone M, Orsi L, Salmin P, et al. Spinocerebellar Ataxia Tethering PCR: A Rapid Genetic Test for the Diagnosis of Spinocerebellar Ataxia Types 1, 2, 3, 6, and 7 by PCR and Capillary Electrophoresis. J Mol Diagn. 2018;20:289-297 pubmed publisher
    ..Repeat number could be calculated counting the number of peaks, except for the largest SCA2 and SCA7 alleles. Interruptions in SCA1 were always visible...
  35. Baine F, Peerbhai N, Krause A. A study of Huntington disease-like syndromes in black South African patients reveals a single SCA2 mutation and a unique distribution of normal alleles across five repeat loci. J Neurol Sci. 2018;390:200-204 pubmed publisher
    ..This study thus aimed to investigate five other loci associated with HD phenocopy syndromes - ATN1, ATXN2, ATXN7, TBP and C9orf72...
  36. Gardiner S, Harder A, Campman Y, Trompet S, Gussekloo J, van Belzen M, et al. Repeat length variations in ATXN1 and AR modify disease expression in Alzheimer's disease. Neurobiol Aging. 2019;73:230.e9-230.e17 pubmed publisher
    ..of Pravastatin in the Elderly at Risk), we determined the CAG repeat sequences in ATXN1, ATXN2, ATXN3, CACNA1A, ATXN7, TBP, HTT, ATN1, and AR...
  37. Magaña J, Tapia Guerrero Y, Velázquez Perez L, Cerecedo Zapata C, Maldonado Rodriguez M, Jano Ito J, et al. Analysis of CAG repeats in five SCA loci in Mexican population: epidemiological evidence of a SCA7 founder effect. Clin Genet. 2014;85:159-65 pubmed publisher
    ..In this study, we simultaneously genotyped SCA1, SCA2, SCA3, SCA6, and SCA7 applying a fluorescent multiplex polymerase chain reaction assay...
  38. Torres Ramos Y, Montoya Estrada A, Cisneros B, Tercero Pérez K, León Reyes G, Leyva García N, et al. Oxidative Stress in Spinocerebellar Ataxia Type 7 Is Associated with Disease Severity. Cerebellum. 2018;17:601-609 pubmed publisher
    ..ataxia type 7 is a neurodegenerative inherited disease caused by a CAG expansion in the coding region of the ATXN7 gene, which results in the synthesis of polyglutamine-containing ataxin-7...
  39. Lin Y, Zheng J, Jin Y, Xie Y, Jin Z. Trinucleotide expansions in the SCA7 gene in a large family with spinocerebellar ataxia and craniocervical dystonia. Neurosci Lett. 2008;434:230-3 pubmed publisher
    ..Molecular screening of the SCA1 and SCA7 genes was carried out by subcloning and direct PCR-sequencing methods...
  40. Yefimova M, Messaddeq N, Karam A, Jacquard C, Weber C, Jonet L, et al. Polyglutamine toxicity induces rod photoreceptor division, morphological transformation or death in spinocerebellar ataxia 7 mouse retina. Neurobiol Dis. 2010;40:311-24 pubmed publisher
    ..cope with polyQ toxicity, we studied a Spinocerebellar ataxia 7 (SCA7) mouse which expresses polyQ-expanded ATXN7 only in rod photoreceptors...
  41. Watson L, Smith D, Scholefield J, Ballo R, Kidson S, Greenberg L, et al. Spinocerebellar ataxia type 7 in South Africa: Epidemiology, pathogenesis and therapy. S Afr Med J. 2016;106:S107-9 pubmed publisher
    ..In particular, SCA7, which occurs at an unusually high frequency in the South African (SA) population, was identified as a target for ..
  42. Alves S, Cormier Dequaire F, Marinello M, Marais T, Muriel M, Beaumatin F, et al. The autophagy/lysosome pathway is impaired in SCA7 patients and SCA7 knock-in mice. Acta Neuropathol. 2014;128:705-22 pubmed publisher
    ..determine whether the autophagy/lysosome system contributes to the pathogenesis of spinocerebellar ataxia type 7 (SCA7), caused by expansion of a polyglutamine tract in the ataxin-7 protein, we looked for biochemical, histological and ..
  43. Kumar G, Clark S, McClay J, Shabalin A, ADKINS D, Xie L, et al. Refinement of schizophrenia GWAS loci using methylome-wide association data. Hum Genet. 2015;134:77-87 pubmed publisher
    ..not driven by chance, we successfully replicated the top three methylation findings near genes SDCCAG8, CREB1 and ATXN7 in an independent sample using targeted pyrosequencing...
  44. Moriarty A, Cook A, Hunt H, Adams M, Cipolotti L, Giunti P. A longitudinal investigation into cognition and disease progression in spinocerebellar ataxia types 1, 2, 3, 6, and 7. Orphanet J Rare Dis. 2016;11:82 pubmed publisher
    ..longitudinal characterisation of the clinical and cognitive profiles in patients with SCA1, SCA2, SCA3, SCA6 and SCA7, with the aim of elucidating the role of the cerebellum in cognition...
  45. Tezenas du Montcel S, Durr A, Bauer P, Figueroa K, Ichikawa Y, Brussino A, et al. Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes. Brain. 2014;137:2444-55 pubmed publisher
    ..individuals with spinocerebellar ataxia type 1, age at onset was also influenced by other (CAG)n-containing genes: ATXN7 in spinocerebellar ataxia type 2; ATXN2, ATN1 and HTT in spinocerebellar ataxia type 3; ATXN1 and ATXN3 in ..
  46. Cintra V, Lourenço C, Marques S, de Oliveira L, Tumas V, Marques W. Mutational screening of 320 Brazilian patients with autosomal dominant spinocerebellar ataxia. J Neurol Sci. 2014;347:375-9 pubmed publisher
    ..3%) were found to have a definite mutation, and SCA3 accounted for most of the familial cases (70.7%), followed by SCA7 (6%), SCA1 (5.3%), SCA2 (2.7%), SCA6 (1.3%), SCA8 (0.7%) and SCA10 (0.7%)...
  47. Burke T, Miller J, Grant P. Direct inhibition of Gcn5 protein catalytic activity by polyglutamine-expanded ataxin-7. J Biol Chem. 2013;288:34266-75 pubmed publisher
    Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disease caused by polyglutamine (polyQ) expansion within the N-terminal region of the ataxin-7 protein, a known subunit of the SAGA complex...
  48. Adanyeguh I, Henry P, Nguyen T, Rinaldi D, Jauffret C, Valabregue R, et al. In vivo neurometabolic profiling in patients with spinocerebellar ataxia types 1, 2, 3, and 7. Mov Disord. 2015;30:662-70 pubmed publisher
    ..in the cerebellar vermis and pons of a cohort of patients with SCA1 (n=16), SCA2 (n=12), SCA3 (n=21), and SCA7 (n=12) and healthy controls (n=33)...
  49. Konieczny M, Bauer P, Tomiuk J, Weisser G, Haan J, Berger K, et al. CAG repeats in Restless Legs syndrome. Am J Med Genet B Neuropsychiatr Genet. 2006;141B:173-6 pubmed
    ..contribution of SCA alleles to idiopathic RLS we investigated the CAG repeat length at the SCA1, SCA2, SCA3, SCA6, SCA7, and SCA17 loci in 215 patients who fulfilled the clinical criteria of RLS and presented periodic leg movements in ..
  50. Pedroso J, de Freitas M, Albuquerque M, Saraiva Pereira M, Jardim L, Barsottini O. Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes?. J Neurol Sci. 2014;347:356-8 pubmed publisher
    ..From a large SCA cohort, we have observed chorea in 1/35 SCA2, 1/112 SCA3/MJD, and 1/30 SCA7 patients...
  51. Liang L, Chen T, Wu Y. The electrophysiology of spinocerebellar ataxias. Neurophysiol Clin. 2016;46:27-34 pubmed publisher
    ..Opinion about peripheral nerve involvement in SCA7 varies between authors...
  52. Traore M, Coulibaly T, Meilleur K, La Pean A, Sangare M, Landoure G, et al. Clinical and genetic analysis of spinocerebellar ataxia in Mali. Eur J Neurol. 2011;18:1269-71 pubmed publisher
    ..In three patients, SCA type3 was diagnosed and CAG mutation was expanded to 73 repeats. Our data suggest that the most frequent types of SCA are SCA2 and SCA7. However, further studies are needed to confirm these preliminary results.
  53. Friedrich B, Euler P, Ziegler R, Kuhn A, Landwehrmeyer B, Luthi Carter R, et al. Comparative analyses of Purkinje cell gene expression profiles reveal shared molecular abnormalities in models of different polyglutamine diseases. Brain Res. 2012;1481:37-48 pubmed publisher
    ..nuclear events lead to transcriptional alterations in PolyQ diseases such as spinocerebellar ataxia type 7 (SCA7) and Huntington's disease (HD), conditions which share a cerebellar degenerative phenotype...
  54. Guyenet S, Mookerjee S, Lin A, Custer S, Chen S, Sopher B, et al. Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction. Hum Mol Genet. 2015;24:3908-17 pubmed publisher
    The neurodegenerative disorder spinocerebellar ataxia type 7 (SCA7) is caused by a polyglutamine (polyQ) expansion in the ataxin-7 protein, categorizing SCA7 as one member of a large class of heritable neurodegenerative proteinopathies...
  55. Ajayi A, Yu X, Wahlo Svedin C, Tsirigotaki G, Karlström V, Ström A. Altered p53 and NOX1 activity cause bioenergetic defects in a SCA7 polyglutamine disease model. Biochim Biophys Acta. 2015;1847:418-428 pubmed publisher
    ..involving disruption of p53 and NADPH oxidase 1 (NOX1) activity, by which the expanded SCA7 disease protein ATXN7 causes metabolic dysregulation...
  56. Hernandez Castillo C, Galvez V, Diaz R, Fernandez Ruiz J. Specific cerebellar and cortical degeneration correlates with ataxia severity in spinocerebellar ataxia type 7. Brain Imaging Behav. 2016;10:252-7 pubmed publisher
    Spinocerebellar ataxia type 7 (SCA7) is a progressive neurodegenerative disorder that is accompanied by loss of motor control and macular degeneration...
  57. Ong C, Berking O, Walker M, McEwan A. New Insights into the Role of Zinc Acquisition and Zinc Tolerance in Group A Streptococcal Infection. Infect Immun. 2018;86: pubmed publisher
    ..to determine the role of GAS zinc import and export during infection, we utilized zinc import (ΔadcA ΔadcAII) and export (ΔczcD) deletion mutants in competition with the wild type in both in vitro and ..
  58. Rajkiewicz M, Sułek Piatkowska A, Krysa W, Zdzienicka E, Szirkowiec W, Zaremba J. Screening for premutation in the FMR1 gene in male patients suspected of spinocerebellar ataxia. Neurol Neurochir Pol. 2008;42:497-504 pubmed
    ..repeats was performed in the following genes: ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN7 (SCA7), ATXN80S (SCA8), PPP2R2B (SCA12), TBP (SCA17), ATN1 (DRPLA)...
  59. Milne R, Burwinkel B, Michailidou K, Arias Pérez J, Zamora M, Menéndez Rodríguez P, et al. Common non-synonymous SNPs associated with breast cancer susceptibility: findings from the Breast Cancer Association Consortium. Hum Mol Genet. 2014;23:6096-111 pubmed publisher
    ..Strong evidence of association was observed for three nsSNPs: ATXN7-K264R at 3p21 [rs1053338, per allele OR = 1.07, 95% confidence interval (CI) = 1.04-1.10, P = 2...
  60. Martínez Sánchez P, Cazorla García R, Sanz Gallego I, Correas Callero E, Pulido Valdeolivas I, Arpa J. Substantia nigra echogenicity in hereditary ataxias with and without nigrostriatal pathology: a pilot study. Cerebellum. 2015;14:240-6 pubmed publisher
    ..SCA3 and SCA6), 2) nigrostriatal healthy controls matched by age and sex, 3) non-nigrostriatal ataxias (FRDA and SCA7), and 4) non-nigrostriatal healthy controls matched by age and sex...
  61. Braga Neto P, Pedroso J, Furtado G, Gheno T, Saraiva Pereira M, Jardim L, et al. Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil. Cerebellum. 2017;16:812-816 pubmed publisher
    ..CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17 and DRPLA associated genes, and ATTCT expansions at SCA10 gene were studied...
  62. Tan J, Vance K, Varela M, Sirey T, Watson L, Curtis H, et al. Cross-talking noncoding RNAs contribute to cell-specific neurodegeneration in SCA7. Nat Struct Mol Biol. 2014;21:955-961 pubmed publisher
    ..in spinocerebellar ataxia type 7 (SCA7), a neurodegenerative disorder caused by a CAG-repeat expansion in ATXN7 (which encodes an essential component of the mammalian transcription coactivation complex, STAGA), the factors ..
  63. dela Peña I, Botanas C, de la Peña J, Custodio R, dela Peña I, Ryoo Z, et al. The Atxn7-overexpressing mice showed hyperactivity and impulsivity which were ameliorated by atomoxetine treatment: A possible animal model of the hyperactive-impulsive phenotype of ADHD. Prog Neuropsychopharmacol Biol Psychiatry. 2019;88:311-319 pubmed publisher
    ..In our previous study, we have identified Ataxin-7 (Atxn7) as a hyperactivity-associated gene...
  64. Gómez Coello A, Valadez Jiménez V, Cisneros B, Carrillo Mora P, Parra Cárdenas M, Hernandez Hernandez O, et al. Voice Alterations in Patients With Spinocerebellar Ataxia Type 7 (SCA7): Clinical-Genetic Correlations. J Voice. 2017;31:123.e1-123.e5 pubmed publisher
    ..disease caused by the expansion of a cytosine-adenine-guanine triplet located in the coding region of the ATXN7 gene, which is characterized by cerebellar ataxia, pigmentary macular degeneration, and dysarthria...
  65. Gupta S, Marks H. Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable. J Neurol Sci. 2008;264:173-6 pubmed
    ..Spinocerebellar ataxia type 7 (SCA7) is less variable in clinical presentation than other SCAs...
  66. Kahle J, Gulbahce N, Shaw C, Lim J, Hill D, Barabasi A, et al. Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Hum Mol Genet. 2011;20:510-27 pubmed publisher
    ..polyglutamine (polyQ) tracts in CACNA1A, the alpha1A subunit of the P/Q-type calcium channel, and ataxin-7 (ATXN7), a component of a chromatin-remodeling complex, respectively...
  67. Ramos A, Raposo M, Milà M, Bettencourt C, Houlden H, Cisneros B, et al. Verification of Inter-laboratorial Genotyping Consistency in the Molecular Diagnosis of Polyglutamine Spinocerebellar Ataxias. J Mol Neurosci. 2016;58:83-7 pubmed publisher
    ..was to verify the existence of inter-laboratorial consistency comparing genotypes for SCA1, SCA2, SCA3, SCA6 and SCA7 obtained by independent diagnostic laboratories...
  68. Dela Peña I, Dela Peña I, de la Peña J, Kim H, Sohn A, Shin C, et al. Transcriptional profiling of SHR/NCrl prefrontal cortex shows hyperactivity-associated genes responsive to amphetamine challenge. Genes Brain Behav. 2017;16:664-674 pubmed publisher
    ..Of these DEGs, expression levels of two genes, Atxn7 and Per2, which are involved in transcription and circadian rhythm, respectively, were downregulated following ..
  69. Gatchel J, Watase K, Thaller C, Carson J, Jafar Nejad P, Shaw C, et al. The insulin-like growth factor pathway is altered in spinocerebellar ataxia type 1 and type 7. Proc Natl Acad Sci U S A. 2008;105:1291-6 pubmed publisher
    ..In particular, spinocerebellar ataxia type 1 and 7 (SCA1 and SCA7) patients manifest cerebellar ataxia with degeneration of Purkinje cells...
  70. Smith D, Atadzhanov M, Mwaba M, Greenberg L. Evidence for a common founder effect amongst South African and Zambian individuals with Spinocerebellar ataxia type 7. J Neurol Sci. 2015;354:75-8 pubmed publisher
    ..ataxia type 7 (SCA7) is an inherited neurodegenerative disease caused by the expansion of a CAG repeat within the ataxin 7 gene, leading to a pathogenic polyglutamine tract within the ataxin 7 protein...
  71. Montero Conde C, Leandro García L, Chen X, Oler G, Ruiz Llorente S, Ryder M, et al. Transposon mutagenesis identifies chromatin modifiers cooperating with Ras in thyroid tumorigenesis and detects ATXN7 as a cancer gene. Proc Natl Acad Sci U S A. 2017;114:E4951-E4960 pubmed publisher
    ..The disrupted genes primarily clustered in chromatin remodeling functional nodes and in the PI3K pathway. ATXN7, a component of a multiprotein complex with histone acetylase activity, scored as a significant SB hit...
  72. Aydin G, Dekomien G, Hoffjan S, Gerding W, Epplen J, Arning L. Frequency of SCA8, SCA10, SCA12, SCA36, FXTAS and C9orf72 repeat expansions in SCA patients negative for the most common SCA subtypes. BMC Neurol. 2018;18:3 pubmed publisher
    ..They showed alleles in the normal range for the most common SCA subtypes SCA1-3, SCA6, SCA7 and SCA17...
  73. Hugosson T, Gränse L, Ponjavic V, Andreasson S. Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7). Ophthalmic Genet. 2009;30:1-6 pubmed publisher
    ..This is in accordance with the theory that ataxin-7 interacts with CRX transcription, since it is known that mutations in the CRX gene cause cone-rod dystrophy. ..
  74. Kampinga H, Bergink S. Heat shock proteins as potential targets for protective strategies in neurodegeneration. Lancet Neurol. 2016;15:748-759 pubmed publisher
    ..diseases such as Huntington's disease and different forms of spinocerebellar ataxias (SCA; SCA1-3, SCA6, and SCA7). The collapse of cellular protein homoeostasis can be both a cause and a consequence of this protein aggregation...
  75. Fiszer A, Wroblewska J, Nowak B, Krzyzosiak W. Mutant CAG Repeats Effectively Targeted by RNA Interference in SCA7 Cells. Genes (Basel). 2016;7: pubmed publisher
    ..polyglutamine (polyQ) disease caused by a CAG repeat expansion in the open reading frame of the ATXN7 gene...
  76. Lang G, Bonnet J, Umlauf D, Karmodiya K, Koffler J, Stierlé M, et al. The tightly controlled deubiquitination activity of the human SAGA complex differentially modifies distinct gene regulatory elements. Mol Cell Biol. 2011;31:3734-44 pubmed publisher
    ..USP22 through multiple interactions with different domains of other subunits of the SAGA deubiquitination module (ATXN7, ATXN7L3, and ENY2)...
  77. Jiang Y, Zhou C, Zhou Z, Wu M, Hu H. Structural basis for recognition of the third SH3 domain of full-length R85 (R85FL)/ponsin by ataxin-7. FEBS Lett. 2013;587:2905-11 pubmed publisher
    ..Microscopy imaging demonstrated that sequestration of R85FL by the polyQ-expanded Atx7 in cell is mediated by this specific SH3C-PRR interaction, which is implicated in the pathogenesis of spinocerebellar ataxia 7. ..
  78. Coutelier M, Coarelli G, Monin M, Konop J, Davoine C, Tesson C, et al. A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies. Brain. 2017;140:1579-1594 pubmed publisher
    ..While polyglutamine ataxias, linked to CAG repeat expansions in genes such as ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A and TBP, have been extensively characterized in large cohorts, there is a need for comprehensive ..
  79. Rodrigues G, Walker R, Bader B, Danek A, Brice A, Cazeneuve C, et al. Clinical and genetic analysis of 29 Brazilian patients with Huntington's disease-like phenotype. Arq Neuropsiquiatr. 2011;69:419-23 pubmed
    ..the occurrence of diseases such as Huntington's disease-like 2 (HDL2), spinocerebellar ataxia (SCA) 1, SCA2, SCA3, SCA7, dentatorubral-pallidoluysian atrophy (DRPLA) and chorea-acanthocytosis (ChAc) among 29 Brazilian patients with a ..
  80. Alves S, Marais T, Biferi M, Furling D, Marinello M, El Hachimi K, et al. Lentiviral vector-mediated overexpression of mutant ataxin-7 recapitulates SCA7 pathology and promotes accumulation of the FUS/TLS and MBNL1 RNA-binding proteins. Mol Neurodegener. 2016;11:58 pubmed publisher
    ..We used lentiviral vectors (LVs) to generate a new SCA7 animal model overexpressing a truncated mutant ataxin-7 (MUT ATXN7) fragment in the mouse cerebellum, in order to characterize the specific neuropathological and behavioral ..
  81. Freund A, Scola R, Teive H, Arndt R, da Costa Ribeiro M, Alle L, et al. Spinocerebellar ataxias: microsatellite and allele frequency in unaffected and affected individuals. Arq Neuropsiquiatr. 2009;67:1124-32 pubmed
    ..of the SCA in Southern Brazil, we analyzed the trinucleotide repeats (CAG)n at the SCA1, SCA2, SCA3, SCA6 and SCA7 loci to identify allele size ranges and frequencies...
  82. Zhao X, Usdin K. The Repeat Expansion Diseases: The dark side of DNA repair. DNA Repair (Amst). 2015;32:96-105 pubmed publisher
    ..This review will summarize recent findings from patients and from mouse models of these diseases that shed light on how these pathways may interact to cause repeat expansion. ..
  83. Choubtum L, Witoonpanich P, Hanchaiphiboolkul S, Bhidayasiri R, Jitkritsadakul O, Pongpakdee S, et al. Analysis of SCA8, SCA10, SCA12, SCA17 and SCA19 in patients with unknown spinocerebellar ataxia: a Thai multicentre study. BMC Neurol. 2015;15:166 pubmed publisher
    ..DNA samples of 82 index patients who were genetically excluded MJD, SCA1, SCA2, SCA6, SCA7 and dentatorubro-pallidoluysian atrophy (DRPLA) were examined...
  84. Sundar I, Yin Q, Baier B, Yan L, Mazur W, Li D, et al. DNA methylation profiling in peripheral lung tissues of smokers and patients with COPD. Clin Epigenetics. 2017;9:38 pubmed publisher
    ..analysis identified suggestive genes, such as NOS1AP, TNFAIP2, BID, GABRB1, ATXN7, and THOC7 with DNA methylation changes in COPD lung tissues that were further validated by ..
  85. Zhao Y, Lang G, Ito S, Bonnet J, Metzger E, Sawatsubashi S, et al. A TFTC/STAGA module mediates histone H2A and H2B deubiquitination, coactivates nuclear receptors, and counteracts heterochromatin silencing. Mol Cell. 2008;29:92-101 pubmed publisher
    ..Thus, the deubiquitinase activity of the TFTC/STAGA HAT complex is necessary to counteract heterochromatin silencing and acts as a positive cofactor for activation by nuclear receptors in vivo. ..
  86. Zhang X, Varthi M, Sykes S, Phillips C, Warzecha C, Zhu W, et al. The putative cancer stem cell marker USP22 is a subunit of the human SAGA complex required for activated transcription and cell-cycle progression. Mol Cell. 2008;29:102-11 pubmed publisher
    ..In support of a functional role within the Polycomb/cancer stem cell signature, USP22 is required for appropriate progression through the cell cycle. ..
  87. Wardle M, Majounie E, Muzaimi M, Williams N, Morris H, Robertson N. The genetic aetiology of late-onset chronic progressive cerebellar ataxia. A population-based study. J Neurol. 2009;256:343-8 pubmed publisher
    ..Furthermore, there is marked geographic and ethnic variation in the relative importance of these individual disorders and the cause of such observed variation remains unexplained...
  88. Furrer S, Mohanachandran M, Waldherr S, Chang C, Damian V, Sopher B, et al. Spinocerebellar ataxia type 7 cerebellar disease requires the coordinated action of mutant ataxin-7 in neurons and glia, and displays non-cell-autonomous bergmann glia degeneration. J Neurosci. 2011;31:16269-78 pubmed publisher
    Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited disorder characterized by cerebellum and brainstem neurodegeneration. SCA7 is caused by a CAG/polyglutamine (polyQ) repeat expansion in the ataxin-7 gene...
  89. van der Heijden C, Rijpkema M, Arias Vasquez A, Hakobjan M, Scheffer H, Fernandez G, et al. Genetic variation in ataxia gene ATXN7 influences cerebellar grey matter volume in healthy adults. Cerebellum. 2013;12:390-5 pubmed publisher
    ..The functional single nucleotide polymorphism (SNP) rs3774729 located in ATXN7 was selected as the variant of interest...
  90. Fujita K, Nakamura Y, Oka T, Ito H, Tamura T, Tagawa K, et al. A functional deficiency of TERA/VCP/p97 contributes to impaired DNA repair in multiple polyglutamine diseases. Nat Commun. 2013;4:1816 pubmed publisher
    ..Taken together, our results provide a novel common pathomechanism in multiple polyglutamine diseases that is mediated by DNA repair function of TERA/VCP/p97. ..
  91. Magaña J, Gomez R, Maldonado Rodriguez M, Velázquez Perez L, Tapia Guerrero Y, Cortes H, et al. Origin of the spinocerebellar ataxia type 7 gene mutation in Mexican population. Cerebellum. 2013;12:902-5 pubmed publisher
    ..The cause of the disease has been identified as (CAG) n repeat expansion in the coding sequence of the ATXN7 gene on chromosome 3p21.1...
  92. Yang H, Liu S, He W, Zhao J, Jiang L, Hu H. Aggregation of Polyglutamine-expanded Ataxin 7 Protein Specifically Sequesters Ubiquitin-specific Protease 22 and Deteriorates Its Deubiquitinating Function in the Spt-Ada-Gcn5-Acetyltransferase (SAGA) Complex. J Biol Chem. 2015;290:21996-2004 pubmed publisher
    Human ataxin 7 (Atx7) is a component of the deubiquitination module (DUBm) in the Spt-Ada-Gcn5-acetyltransferase (SAGA) complex for transcriptional regulation, and expansion of its polyglutamine (polyQ) tract leads to spinocerebellar ..