|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
Although C.B-17Sz-scid/scid and C57BL/6Sz-scid/scid mice have elevated serum hemolytic complement activity compared with their respective +/+ controls, both NOD/(LtSz-)+/+ and NOD/LtSz-scid/scid mice lack this activity.
|
7995938 |
1995 |
|
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 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 |
AlteredExpression
|
disease |
BEFREE |
These results indicate that the correlation between atrophin-1 expression and regions of pathology in DRPLA is at best partial, and that the expanded allele does not cause a major loss of mRNA expression.
|
8965642 |
1996 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
A construct with 65 glutamine repeats encoding an N-terminal fragment (which removes an NES) of atrophin-1 similar in size to the truncation product in DRPLA patient tissue, showed increased nuclear labeling, and an increase in cellular toxicity, compared with a similar fragment with 26 glutamines.
|
12464607 |
2003 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
To investigate the implication of small ubiquitin-related modifier-1 (SUMO-1) in the formation of neuronal intranuclear inclusions in polyglutamine diseases, we examined the localization of SUMO-1 in dentatorubral-pallidoluysian atrophy (DRPLA) brain tissues and PC12 cells expressing truncated atrophin-1 with expanded poly-glutamine stretches.
|
12488827 |
2002 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
These results provide support for the toxic fragment hypothesis whereby cleavage of atrophin-1 by caspases may be an important step in the pathogenesis of DRPLA.
|
10085113 |
1999 |
|
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 |
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 |
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 |
Transgenic mice harboring a full-length human mutant DRPLA gene exhibit age-dependent intergenerational and somatic instabilities of CAG repeats comparable with those in DRPLA patients.
|
9887337 |
1999 |
|
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 |
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 |
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 |
Homozygosity for an intermediate allele in the DRPLA gene appears to have resulted in spastic paraplegia different from any DRPLA phenotype.
|
9109905 |
1997 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
We have made mouse models of HD and DRPLA using an N-terminal truncation of huntingtin (N171) and full-length atrophin-1 (the DRPLA gene product), respectively.
|
10434299 |
1999 |
|
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 |
An unstable expansion of CAG repeat in the coding region of the DRPLA gene on chromosome 12p is the mutation specific for hereditary dentatorubral-pallidoluysian atrophy (DRPLA).
|
7633415 |
1995 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
BEFREE |
The diagnosis of DRPLA was based on expanded CAG repeats of the DRPLA gene.
|
11843701 |
2002 |
|
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 |
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Consistent with the results from previous studies on transgenic mice that expressed mutant Atrophin-1 with 65 glutamines, Atro-118Q mice exhibited several neurodegenerative phenotypes that are commonly seen in DRPLA patients, including ataxia, tremors, and other motor defects.
|
16407196 |
2006 |