IndraLab

Statements



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"Our data demonstrate that DNAJB6 levels are a crucial factor in determining sensitivity to polyQ-related amyloidosis.To study aggregation of endogenous, full-length proteins with expanded polyglutamin[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"

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"Huntington’s disease (HD) and spinocerebellar ataxia type 3 (SCA3, also called Machado-Joseph disease) are caused by extensive polyglutamine (polyQ) expansion of the huntingtin or ataxin-3 protein [334]."

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"The most common, dominantly inherited ataxia worldwide, Spinocerebellar Ataxia Type 3 (SCA3), also known as Machado-Joseph Disease, is caused by a mutation in the deubiquitinase (DUB) ataxin-3 (Atxn3)[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"

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"The CAG repeat expansion in the coding region of ATXN3 causes spinocerebellar ataxia type 3 (SCA3) ."

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"A similar study investigated the expression of ataxin3, the ortholog of ATXN3 whose polyQ pathological expansion causes Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (MJD/SCA3) (Matos et al., 2019)."

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"Spinocerebellar ataxia type 3 (SCA3) is caused by an expanded polyglutamine stretch in ataxin-3."

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"Toxic proteins, such as polyQ expanded ataxin-3, which is the cause of spinocerebellar ataxia 3, have been shown to be targeted for degradation through the autophagy pathway [7,8,9,10,11,12,13,14,15]."

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"A recent study found that dietary CR or CR mimetics (overexpression or pharmacological activation of SIRT1) were sufficient to substantially suppress motor incoordination, cerebellar degeneration, and[MISSING/INVALID CREDENTIALS: limited to 200 char for Elsevier]"

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"Prior to this, an algorithm called RepeatHMM was published and shown to be able to accurately measure pathogenic CAG expansions in the ATXN3 gene causing Machado-Joseph disease/SCA3 and long expansions of ATTCT repeats resulting in SCA10 (Liu et al. 2017)."

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"Similarly , ATXN3 , causing spinocerebellar ataxia 3 ( SCA3 ) , interacts with RAD23A / B , which are important players in NER [ 51 ] ."

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"The amplification of CGG triplet in 5′-UTR of the fragile X mental retardation 1 (FMR1) gene may lead to Fragile X disorders (FXTAS), while (CAG)n in the exon of ataxin3 (ATXN3) may cause Spinocerebellar Ataxia 3 (SCA3)."

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"Spinocerebellar Ataxia 3 (SCA3) is caused by CAG repeat expansion (polyQ) in SCA3 (a.k.a ATXN3) gene."

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"This proteotoxic Ataxin 3 underlies the manifestation of the neurodegenerative disorder “Machado Joseph Disease” (MJD) in humans (Durcan and Fon, 2013)."

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"CAG-polyglutamine (polyQ) repeat expansions in ATXN3 cause the neurodegenerative disorder spinocerebellar ataxia type 3 (SCA3)."

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"CAG repeats mutation in the ATXN3 gene, causing spinocerebellar ataxia type 3 disease."

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"The accumulation of ATX3 in brain cells causes a proteostasis impairment that leads to the Machado–Joseph disease, or spinocerebellar ataxia-3 (Dantuma and Herzog 2020)."