Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we demonstrate that the same agents also deplete other polyglutamine disease-related proteins: mutant ataxin-3 and ataxin-7 in cells from spino-cerebellar ataxia patients, and mutant atrophin-1 in cells from dentatorubral-pallidoluysian atrophy patients.
|
31767406 |
2020 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Polyglutamine expansions in the transcriptional co-repressor Atrophin-1, encoded by ATN1, cause the neurodegenerative condition dentatorubral-pallidoluysian atrophy (DRPLA) via a proposed novel toxic gain of function.
|
30827498 |
2019 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
<b>Abbreviations</b>: AD: Alzheimer disease; AMFR/Gp78: autocrine motility factor receptor; CCCP: carbonyl cyanide <i>m</i>-chlorophenylhydrazone; CML: chronic myeloid leukemia; CVB3: coxsackievirus B3; DRPLA: dentatorubral-pallidoluysian atrophy; ER: endoplasmic reticulum; ERAD: ER-associated degradation; FA: focal adhesion; HCQ: hydroxychloroquine; HD: Huntingtin disease; HIF1A/Hif1α: hypoxia inducible factor 1 subunit alpha; HTT: huntingtin; IM: imatinib mesylate; MAP1LC3B: microtubule associated protein 1 light chain 3 beta; NBR1: neighbour of BRCA1; OGA: O-GlcNAcase; PDAC: pancreatic ductal adenocarcinoma; PLEKHM1: pleckstrin homology and RUN domain containing M1; polyQ: poly-glutamine; ROS: reactive oxygen species; RP: retinitis pigmentosa; SNAP29: synaptosome associated protein 29; SPCA3: spinocerebellar ataxia type 3; TNBC: triple-negative breast cancer.
|
30153072 |
2019 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Using a define, enrich, and find early detection approach, the aims of the NOD study are to (a) estimate the 3-year probability of pancreatic ductal adenocarcinoma (PDAC) in NOD (define), (b) establish a biobank of clinically annotated biospecimens from presymptomatic PDAC and control new-onset type 2 diabetes mellitus subjects, (c) conduct phase 3 validation studies of promising biomarkers for identification of incident PDAC in NOD patients (enrich), and (d) provide a platform for development of a future interventional screening protocol for early detection of PDAC in patients with NOD that incorporates imaging studies and/or clinical algorithms (find).
|
30325864 |
2019 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dentatorubral-pallidoluysian atrophy (DRPLA) is an incurable autosomal dominant disease caused by an expansion of a CAG repeats in ATN1 gene encoding atrophin 1 protein.
|
31374462 |
2019 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant spinocerebellar ataxia caused by CAG triplet expansion in atrophin 1 and is frequently associated with cerebral white matter lesions.
|
29236168 |
2018 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Dentatorubropallidoluysian atrophy (DRPLA) is a neurodegenerative disease caused by an expansion of a cytosine-adenine-guanine (CAG) repeat encoding a polyglutamine tract in the atrophin-1 protein.
|
29686598 |
2018 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In Venezuela, genetic epidemiological features of SCAs have been assessed during the last 30 years; mutations in ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN7 (SCA7), ATXN8 (SCA8), ATXN10 (SCA10), TBP (SCA17) and ATN1 (dentatorubral pallidoluysian atrophy, DRPLA) loci were searched among 115 independent families.
|
26538302 |
2016 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed 62 CAG repeats in one allele of the DRPLA gene and he was diagnosed with DRPLA.
|
26679169 |
2015 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Inhibition of mutant ATN-1 protein expression is one strategy for treating DRPLA, and allele-selective gene silencing agents that block mutant expression over wild-type expression would be lead compounds for therapeutic development.
|
24981774 |
2014 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The splicing of Adora1 and loss of Adora1 expression on α-cells may explain the hyperglucagonemia observed in prediabetic NOD mice and may contribute to the pathogenesis of human T1D and NOD disease.
|
24264405 |
2013 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our group established DRPLA transgenic mice harboring a single copy of a full-length human mutant DRPLA gene with 76 CAG repeats (Q76 mice).
|
23754232 |
2013 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Sixteen independent patients with involuntary movements, psychiatric disturbances and ataxia not having a HTT mutation were searched for loci PRNP (prion protein, HDL1), JPH3 (HDL2), ATN1 (dentatorubral-pallidoluysian atrophy), ATX2 (spinocerebellar ataxia 2) ATXN3 (spinocerebellar ataxia 3), and TBP (spinocerebellar ataxia 17=HDL4).
|
22971727 |
2013 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Recent immunohistochemical studies on autopsied tissues of patients with DRPLA have demonstrated that diffuse accumulation of mutant DRPLA protein (atrophin-1) in the neuronal nuclei, rather than the formation of neuronal intranuclear inclusions (NIIs), is the predominant pathologic condition and involves a wide range of central nervous system regions far beyond the systems previously reported to be affected.
|
21827919 |
2012 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we have established DRPLA transgenic mouse lines (sublines) harboring a single copy of the full-length mutant human DRPLA gene carrying various lengths of expanded CAG repeats (Q76, Q96, Q113, and Q129), which have clearly shown motor deficits and memory disturbance whose severity increases with the length of expanded CAG repeats and age, and successfully replicated the CAG repeat length- and age-dependent features of DRPLA patients.
|
22342974 |
2012 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Here, we use dynamic imaging approaches, orthogonal cross-seeding, and composition analysis to examine the dynamics and structure of nuclear and cytoplasmic inclusions of atrophin-1, implicated in dentatorubropallidoluysian atrophy, a polyQ-based disease with complex clinical features.
|
22134925 |
2012 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The most effective antisense oligonucleotide, (CUG)(7), also reduced mutant ataxin-1 and ataxin-3 mRNA levels in spinocerebellar ataxia 1 and 3, respectively, and atrophin-1 in dentatorubral-pallidoluysian atrophy patient derived fibroblasts.
|
21909428 |
2011 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Therefore, proteolytic processing of ATN1 may provide clues to disease pathogenesis and hopefully aid in the determination of molecular targets for effective therapeutic approaches for DRPLA.
|
21577324 |
2011 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The discovery of a causative gene mutation (abnormal expansion of the CAG repeat in DRPLA gene) triggered the development of novel neuropathology in DRPLA, which has suggested that polyglutamine-related pathogenesis involves a wide range of central nervous system regions far beyond the systems previously reported to be affected.
|
20500452 |
2010 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Recent studies have shown that nuclear accumulation of ATN1 and cleaved fragments with expanded polyQ is the pathological process underlying neurodegeneration in dentatorubral-pallidoluysian atrophy.
|
20977674 |
2010 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dentatorubral-pallidoluysian Atrophy (DRPLA) is one of these disorders caused by mutations in the Atrophin-1 protein.
|
20339376 |
2010 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
These results support the model that poly-Q expanded Atrophin-1 proteins cause DRPLA in a manner independent of any functional interaction with wild-type Atrophin-1 proteins.
|
19681162 |
2009 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We herein provide a thorough description of new transgenic mouse models for dentatorubral-pallidoluysian atrophy (DRPLA) harboring a single copy of the full-length human mutant DRPLA gene with 76 and 129 CAG repeats.
|
19039037 |
2009 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The size of the expansion was determined using a fluorescent PCR approach in 10 common SCA genes: 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 DRPLA (ATN1), in 165 ataxia patients and 307 controls of Welsh origin.
|
17961920 |
2007 |
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Possibilities of hereditary ataxias, including SCA1 (ataxin 1, ATXN1), SCA2 (ATXN2), Machado-Joseph disease/SCA3 (ATXN1), SCA6 (ATXN1), SCA7 (ATXN7), SCA12 (protein phosphatase 2, regulatory subunit B, beta isoform; PP2R2B), SCA17 (TATA box binding protein, TBP) and DRPLA (atrophin 1; ATN1), were excluded, and no mutations in the alpha-synuclein gene were found.
|
17420317 |
2007 |