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PQBP1 gene

Known as: PQBP1, NUCLEAR PROTEIN CONTAINING A WW DOMAIN, 38-KD, polyglutamine binding protein 1 
National Institutes of Health

Papers overview

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Highly Cited
2016
Highly Cited
2016
The polyglutamine diseases, including Huntington's disease (HD) and multiple spinocerebellar ataxias (SCAs), are among the… Expand
Review
2012
Review
2012
The autosomal dominant cerebellar ataxias (ADCAs) represent a heterogeneous group of neurodegenerative diseases with progressive… Expand
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Highly Cited
2008
Highly Cited
2008
Spinocerebellar ataxia type 6 (SCA6) is a neurodegenerative disorder caused by CAG repeat expansions within the voltage-gated… Expand
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Highly Cited
2007
Highly Cited
2007
The polyglutamine diseases are a family of nine proteins where intracellular protein misfolding and amyloid-like fibril formation… Expand
2006
2006
Background: Golabi, Ito, and Hall reported a family with X linked mental retardation (XLMR), microcephaly, postnatal growth… Expand
Highly Cited
2005
Highly Cited
2005
Spinocerebellar ataxia type 7 (SCA7) is characterized by cone-rod dystrophy retinal degeneration and is caused by a polyglutamine… Expand
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Highly Cited
2002
Highly Cited
2002
The pathology of Huntington's disease is characterized by neuronal degeneration and inclusions containing N-terminal fragments of… Expand
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Highly Cited
2002
Highly Cited
2002
Accumulation of unfolded and malfolded proteins causes endoplasmic reticulum (ER) stress, stimulating unfolded protein response… Expand
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Review
2000
Review
2000
Major advances have been made in the understanding of autosomal dominant cerebellar ataxias since genetic markers came into use… Expand
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Review
2000
Review
2000
tant to proteasome-mediated degradation than the wildAt least eight diseases share a common mechanism of type polyQ protein… Expand
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