|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
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|
|
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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|
|
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Dentatorubral-Pallidoluysian Atrophy
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
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 |
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 |
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 neurodegenerative disease caused by unstable expansion of a CAG repeat in the DRPLA gene.
|
8651298 |
1996 |
|
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
An expansion of the CAG triplet in the human gene called atrophin-1 or CTG-B37 causes the neuropsychiatric disease known as dentatorubral-pallidoluysian atrophy (DRPLA).
|
8925251 |
1996 |
|
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 |
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 |
|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
In order to reveal the pathophysiology of photoparoxysmal responses (PPRs) in photosensitive patients with hereditary dentatorubral-pallidoluysian atrophy (DRPLA) who had expansion of the CAG repeat in the DRPLA gene, we studied the characteristics of PPRs using optical filters with specific wavelength transmission.
|
9187480 |
1997 |
|
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 |
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 |
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 |
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 |
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 |