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Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. Additionally we are shipping Atrophin 1 Kits (4) and Atrophin 1 Proteins (3) and many more products for this protein.
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Chicken Polyclonal Atrophin 1 Primary Antibody for WB - ABIN2778293
Alluri, Komandur, Wagheray, Chaudhuri, Sitajayalakshmi, Meena, Jabeen, Chawda, Subhash, Krishnaveni, Hasan: Molecular analysis of CAG repeats at five different spinocerebellar ataxia loci: correlation and alternative explanations for disease pathogenesis. in Molecules and cells 2008
Epigenetic regulation of ATN1 by LSD1 (show KDM1A Antibodies) is required for cortical progenitor maintenance.
Juvenile myoclonic epilepsy is not associated with the DRPLA gene in a European population.
These data demonstrate that the expanded trinucleotide repeat within ATN-1 mRNA is a potential target for compounds designed to achieve allele-selective inhibition of ATN-1 protein, and one agent may allow the targeting of multiple disease genes.
results suggest that expanded polyQ repeats in ATN1 may contribute to neurodegeneration via alterations in both protein aggregation and intracellular localization.
This study demonistrated that hypoalbuminemia in early onset DRPLA revealed the possibility of multiorgan involvement.
In cerebrum and cerebellum of DRPLA transgenic mouse lines at 4, 8, and 12 weeks it is demonstrated that both the number and expression levels of the altered genes are highly dependent on CAG repeat (show CELF3 Antibodies) length and age in both brain regions.
This study demonistrated that Atn1 is response for Dentatorubral-pallidoluysian atrophy.
This sttudy suggested that age-dependent and CAG repeat (show CELF3 Antibodies)-dependent intranuclear accumulation of mutant DRPLA leading to nuclear dysfunctions are suggested to be the essential pathophysiologic mechanisms in Dentatorubral-pallidoluysian atrophy.
Atrophin-1 promote neurodegeneration with autophagic hallmarks both in neuronal photoreceptors and glial cells.
the C-terminal fragment plays a principal role in the pathological accumulation of ATN1 in dentatorubral-pallidoluysian atrophy
These results support the model that poly-Q expanded Atrophin-1 proteins cause dentatorubral-pallidoluysian atrophy in a manner independent of any functional interaction with wild-type Atrophin-1 proteins.
TLX (show NR2E1 Antibodies) interacts with atrophin1 (Atn1), a corepressor that is involved in human neurodegenerative dentatorubral-pallidoluysian atrophy (DRPLA) and that is essential for development of multiple tissues.
Atrophin-1 and the short form of Atrophin-2 (show RERE Antibodies) can act as potent and evolutionarily conserved transcriptional activators.
Fat1 and Atrs 1,2 act in concert after vascular injury but show further that distinct Atr isoforms have disparate effects on VSMC directional migration.
Dentatorubral pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder characterized by cerebellar ataxia, myoclonic epilepsy, choreoathetosis, and dementia. The disorder is related to the expansion from 7-23 copies to 49-75 copies of a trinucleotide repeat (CAG/CAA) within this gene. The encoded protein includes a serine repeat and a region of alternating acidic and basic amino acids, as well as the variable glutamine repeat. Alternative splicing results in two transcripts variants that encode the same protein.
arginine-glutamic acid dipeptide (RE) repeats
, atrophin 1
, dentatorubral-pallidoluysian atrophy protein
, dentatorubral pallidoluysian atrophy
, dentatorubral-pallidoluysian atrophy protein homolog