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关键词:'ataxin 7'
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Pawel M Switonski et al.
Cell reports, 37(9), 110062-110062 (2021-12-02)
A common mechanism in inherited ataxia is a vulnerability of DNA damage. Spinocerebellar ataxia type 7 (SCA7) is a CAG-polyglutamine-repeat disorder characterized by cerebellar and retinal degeneration. Polyglutamine-expanded ataxin-7 protein incorporates into STAGA co-activator complex and interferes with transcription by
Hartmut Scheel et al.
Human molecular genetics, 12(21), 2845-2852 (2003-08-29)
The spinocerebellar ataxias (SCAs) are a class of hereditary neurodegenerative diseases, which are caused by the pathological expansion of unstable CAG triplet repeats found in a number of apparently unrelated genes. The proteins encoded by the SCA genes typically translate
[Role of chromatin alterations in neurodegeneration induced by polyglutamine-expanded ataxin-7].
Dominique Helmlinger et al.
Medecine sciences : M/S, 22(8-9), 700-702 (2006-09-12)
Yoko Nakamura et al.
Human molecular genetics, 21(5), 1099-1110 (2011-11-22)
The spinocerebellar ataxia type 7 (SCA7) gene product, Ataxin-7 (ATXN7), localizes to the nucleus and has been shown to function as a component of the TATA-binding protein-free TAF-containing-SPT3-TAF9-GCN5-acetyltransferase transcription complex, although cytoplasmic localization of ATXN7 in affected neurons of human
Gérald Vinatier et al.
Biochemical and biophysical research communications, 464(4), 1060-1065 (2015-07-27)
Polyglutamine diseases are nine dominantly inherited neurodegenerative pathologies caused by the expansion of a polyglutamine domain in a protein responsible for the disease. This expansion leads to protein aggregation, inclusion formation and toxicity. Despite numerous studies focusing on the subject
Jessica E Young et al.
The Journal of biological chemistry, 282(41), 30150-30160 (2007-07-25)
Spinocerebellar ataxia type 7 (SCA7) is a polyglutamine (polyQ) disorder characterized by specific degeneration of cerebellar, brainstem, and retinal neurons. Although they share little sequence homology, proteins implicated in polyQ disorders have common properties beyond their characteristic polyQ tract. These
Stephan J Guyenet et al.
Human molecular genetics, 24(14), 3908-3917 (2015-04-11)
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. Cleavage of ataxin-7 by the protease caspase-7 has
Gwenn A Garden et al.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 22(12), 4897-4905 (2002-06-22)
Spinocerebellar ataxia (SCA) type 7 is an inherited neurodegenerative disorder caused by expansion of a polyglutamine tract within the ataxin-7 protein. To determine the molecular basis of polyglutamine neurotoxicity in this and other related disorders, we produced SCA7 transgenic mice
Constantin Yanicostas et al.
PloS one, 7(11), e50705-e50705 (2012-12-12)
The expansion of a polyglutamine (polyQ) tract in the N-terminal region of ataxin-7 (atxn7) is the causative event in spinocerebellar ataxia type 7 (SCA7), an autosomal dominant neurodegenerative disorder mainly characterized by progressive, selective loss of rod-cone photoreceptors and cerebellar
Sandro Alves et al.
Molecular neurodegeneration, 11(1), 58-58 (2016-07-29)
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 consequences of the genetic defect in this
Jacqueline M Ward et al.
Cell reports, 26(5), 1189-1202 (2019-01-31)
Spinocerebellar ataxia type 7 (SCA7) is a retinal-cerebellar degenerative disorder caused by CAG-polyglutamine (polyQ) repeat expansions in the ataxin-7 gene. As many SCA7 clinical phenotypes occur in mitochondrial disorders, and magnetic resonance spectroscopy of patients revealed altered energy metabolism, we
J Y Kim et al.
Molecules and cells, 12(3), 336-341 (2002-01-24)
Spinocerebellar ataxias (SCAs) are a heterogeneous group of neurodegenerative disorders. CAG repeat expansions in the causative genes have been identified as the basic cause of several types of SCAs, and have been used for the diagnoses and classifications of patients
Pavitra S Ramachandran et al.
Molecular therapy : the journal of the American Society of Gene Therapy, 22(9), 1635-1642 (2014-06-17)
Spinocerebellar ataxia type 7 (SCA7) is a late-onset neurodegenerative disease characterized by ataxia and vision loss with no effective treatments in the clinic. The most striking feature is the degeneration of Purkinje neurons of the cerebellum caused by the presence
Xin Yu et al.
Journal of molecular neuroscience : MN, 47(2), 219-233 (2012-03-01)
Spinocerebellar ataxia type 7 (SCA7) is one of nine neurodegenerative disorders caused by expanded polyglutamine repeats, and a common toxic gain-of-function mechanism has been proposed. Proteolytic cleavage of several polyglutamine proteins has been identified and suggested to modulate the polyglutamine
Yoko Nakamura et al.
Human molecular genetics, 21(5), 1099-1110 (2011-11-22)
The spinocerebellar ataxia type 7 (SCA7) gene product, Ataxin-7 (ATXN7), localizes to the nucleus and has been shown to function as a component of the TATA-binding protein-free TAF-containing-SPT3-TAF9-GCN5-acetyltransferase transcription complex, although cytoplasmic localization of ATXN7 in affected neurons of human
Janine Scholefield et al.
PloS one, 4(9), e7232-e7232 (2009-10-01)
Spinocerebellar ataxia type 7 is a polyglutamine disorder caused by an expanded CAG repeat mutation that results in neurodegeneration. Since no treatment exists for this chronic disease, novel therapies such post-transcriptional RNA interference-based gene silencing are under investigation, in particular
Hung-Li Wang et al.
Neuropharmacology, 70, 1-11 (2013-01-26)
Spinocerebellar ataxia type 3 (SCA3) caused by polyglutamine-expanded ataxin-3 is the most prevalent subtype of spinocerebellar ataxias. A compound, which decreases protein level of mutant ataxin-3 in SCA3 affected CNS regions, should be a promising therapeutic agent for SCA3. SCA3
Carlotta E Duncan et al.
Molecular neurodegeneration, 8, 42-42 (2013-10-29)
Spinocerebellar ataxia type 7 (SCA7) is caused by a toxic polyglutamine (polyQ) expansion in the N-terminus of the protein ataxin-7. Ataxin-7 has a known function in the histone acetylase complex, Spt/Ada/Gcn5 acetylase (STAGA) chromatin-remodeling complex. We hypothesized that some histone
Anna Sułek-Piatkowska et al.
Neurologia i neurochirurgia polska, 44(3), 238-245 (2010-07-14)
Autosomal dominant spinocerebellar ataxias (SCAs) belong to a group of neurodegenerative disorders usually of adult age at onset. Predominant clinical features are progressive ataxia, dysarthria, as well as pyramidal signs and polyneuropathy. Molecular analysis allows particular types of SCA to
Jenni Jonasson et al.
Acta neuropathologica, 104(1), 29-37 (2002-06-19)
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. In this study we analyzed the expression pattern of ataxin-7
Stephanie A Furrer et al.
Human molecular genetics, 22(5), 890-903 (2012-12-01)
Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited neurodegenerative disorder caused by a CAG - polyglutamine (polyQ) repeat expansion in the ataxin-7 gene. In polyQ disorders, synaptic dysfunction and neurodegeneration may develop prior to symptom onset. However, conditional expression
G Cancel et al.
Brain : a journal of neurology, 123 Pt 12, 2519-2530 (2000-12-02)
Spinocerebellar ataxia 7 (SCA7) is a neurodegenerative disease caused by the expansion of a CAG repeat encoding a polyglutamine tract in the protein ataxin-7. We developed antibodies directed against two different parts of the ataxin-7 protein and studied its distribution
Veronica Cloud et al.
eLife, 8 (2019-07-28)
Atxn7, a subunit of SAGA chromatin remodeling complex, is subject to polyglutamine expansion at the amino terminus, causing spinocerebellar ataxia type 7 (SCA7), a progressive retinal and neurodegenerative disease. Within SAGA, the Atxn7 amino terminus anchors Non-stop, a deubiquitinase, to
Alice Chort et al.
Brain : a journal of neurology, 136(Pt 6), 1732-1745 (2013-03-23)
We showed previously, in a cell model of spinocerebellar ataxia 7, that interferon beta induces the expression of PML protein and the formation of PML protein nuclear bodies that degrade mutant ataxin 7, suggesting that the cytokine, used to treat
Xin Yu et al.
Journal of molecular neuroscience : MN, 47(2), 219-233 (2012-03-01)
Spinocerebellar ataxia type 7 (SCA7) is one of nine neurodegenerative disorders caused by expanded polyglutamine repeats, and a common toxic gain-of-function mechanism has been proposed. Proteolytic cleavage of several polyglutamine proteins has been identified and suggested to modulate the polyglutamine
Bryce L Sopher et al.
Neuron, 70(6), 1071-1084 (2011-06-22)
Spinocerebellar ataxia type 7 (SCA7) is a neurodegenerative disorder caused by CAG/polyglutamine repeat expansions in the ataxin-7 gene. Ataxin-7 is a component of two different transcription coactivator complexes, and recent work indicates that disease protein normal function is altered in
SUMOylation by SUMO2 is implicated in the degradation of misfolded ataxin-7 via RNF4 in SCA7 models.
Martina Marinello et al.
Disease models & mechanisms, 12(1) (2018-12-19)
Perturbation of protein homeostasis and aggregation of misfolded proteins is a major cause of many human diseases. A hallmark of the neurodegenerative disease spinocerebellar ataxia type 7 (SCA7) is the intranuclear accumulation of mutant, misfolded ataxin-7 (polyQ-ATXN7). Here, we show
Stephanie A Furrer et al.
Human molecular genetics, 22(5), 890-903 (2012-12-01)
Spinocerebellar ataxia type 7 (SCA7) is a dominantly inherited neurodegenerative disorder caused by a CAG - polyglutamine (polyQ) repeat expansion in the ataxin-7 gene. In polyQ disorders, synaptic dysfunction and neurodegeneration may develop prior to symptom onset. However, conditional expression
Alfredo Brusco et al.
Archives of neurology, 61(5), 727-733 (2004-05-19)
Autosomal dominant cerebellar ataxias are a clinical and genetically heterogeneous group of progressive neurodegenerative diseases, at present associated with 22 loci (spinocerebellar ataxia [SCA] 1-SCA8, SCA10-SCA19, SCA21, SCA22, fibroblast growth factor 14 [FGF14]-SCA, and dentatorubral-pallidoluysian atrophy [DRPLA]). The relevant gene
Shona Mookerjee et al.
The Journal of neuroscience : the official journal of the Society for Neuroscience, 29(48), 15134-15144 (2009-12-04)
Polyglutamine (polyQ) expansion within the ataxin-7 protein, a member of the STAGA [SPT3-TAF(II)31-GCN5L acetylase] and TFTC (GCN5 and TRRAP) chromatin remodeling complexes, causes the neurodegenerative disease spinocerebellar ataxia type 7 (SCA7). Proteolytic processing of ataxin-7 by caspase-7 generates N-terminal toxic
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