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the biochemical features of the R160W homodimer give a contribution to the enzymatic phenotype of the heterozygous R347Q/R160W and suggest the possible relevance of Arg160 in the proper folding of human Dopa decarboxylase
We found the suicide-associated gene coexpression network. The reconstructed network consisted of 104 genes. Topological analysis showed that in total, CCK, INPP1, DDC, and NPY genes are the most fundamental hubs in the network
IKZF1 rs10235796 C allele, IKZF1 rs6964969A>G, CDKN2A rs3731246 G>C, and CDKN2A rs3731246 C allele were signi fi cantly associated with Acute Lymphoblastic Leukemia in Yemenis of Arab-Asian descent. Borderline association found in IKZF1 rs4132601 T>G variant. No associations found with IKZF1 rs11978267 or rs7789635, DDC rs3779084; rs880028; rs7809758, CDKN2A rs3731217, CEBPE rs2239633; rs12434881
The data provide evidence for cis-acting, functional common polymorphisms in the DOPA decarboxylase gene in the human ventral striatum.
Human histidine decarboxylase (HDC) and dopa decarboxilase (DDC) are highly homologous enzymes responsible for the synthesis of biogenic amines (BA) like histamine, and serotonin and dopamine, respectively. This review summarizes the analogies and differences in their origin as well as their common pathophysiological scenarios. [review]
Newborn screening of AADC deficiency was achieved with a 100% positive-predictive rate. An association for gestational age could be further elucidated.
SNP rs10499695 located intronically in the gene DDC, (DOPA decarboxylase) is significantly associated with cognitive performance in diabetes 2.
Molecular characteristic and physiological role of DOPA-decarboxylase is reviewed.
We found that only the modified U1 snRNA (IVS-AAA) that completely matched both the intronic and exonic U1 binding sequences of the mutated DDC gene could correct splicing errors of either the mutated human DDC minigene or the mouse artificial splicing construct in vitro
The results of this study showed that Lack of Association Between Polymorphisms in Dopa decarboxylase Genes With Childhood
The data showed that L-DOPA decarboxylase constitutes a highly promising molecular marker for renal cell carcinoma.
gene study of 987 BPD cases and 1110 healthy controls found an association between BPD [ borderline personality disorder ]and single nucleotide polymorphism rs12718541 in the dopa decarboxylase gene
Results revealed the general picture of structural and/or functional effects of each DDC mutation linked to AADC deficiency mutations and help to guide therapeutic decision and prevent inappropriate use of treatment regiments.
A novel homozygous DDC variant in syndromic intellectual disability patients, c.1123C>T, resulting in p.Arg375Cys missense substitution.
Results indicate that miR-145 has the ability to regulate DDC mRNA expression and potentially this occurs by recognizing its mRNA as a target.
Our results suggest that DDC may be a genetic modifier of the l-dopa response in Parkinson's disease
assessed variants in four genes, DDC (rs3837091 and rs3735273), DRD2 (rs1800496, rs1801028, and rs1799732), DRD4 (rs4646984 and rs4646983), and COMT (rs165599 and rs740603) in Indian ADHD subjects with comorbid attributes
8 SNPs in DDC gene showed significant associations with MaxDrinks.
Common allelic variants in the DDC gene may be involved in autism susceptibility.
The data of this study confirm histidine decarboxylase deficiency as a rare cause of TS and identify HA-DA interactions in the basal ganglia as an important locus of pathology.
The unusual oxygen-consuming oxidative deamination reaction catalyzed by the pyridoxal 5'-phosphate (PLP) enzyme DOPA decarboxylase (DDC) was here investigated.
Loss of Ddc appears to result in similar phenotypes as that of ADCC deficiency, thus zebrafish could be a good model for investigating pathogenetic mechanisms of AADC deficiency in children.
The data show that endothelial AADC plays an important role in cardiac synthesis of 5-HT and possibly in 5-HT-dependent regulation of nitric oxide generation.
Mash1 plays an important role in regulating the expression of AADC in type III cells in taste buds.
evidence for PKGIalpha-dependent phosphorylation and activation of neuronal AAAD in vitro, and introduce AAAD as a putative PKGIalpha substrate.
Data suggest a possible participation of aromatic L-amino acid decarboxylase (AADC) in the regulation of catecholamine biosynthesis in stellate ganglia of repeatedly stressed mice.
Results suggest that AADC expression begins at early stages of taste bud cell differentiation, and biogenic amines may act on taste bud differentiation of tongue epithelial cells, and further may regulate innervation of taste bud progenitor cells.
analysis of Ddc redefines the imprinted Grb10 domain on mouse proximal chromosome 11 and identifies Ddc_exon1a as the first example of a heart-specific imprinted gene
the fact that renal DDC inversely correlated with renal sodium reabsorption suggest that renal and intestinal gender dimorphism in DDC could be related to sex-related differences in sodium balance observed between males and females
lowered expression of Atg6 or Pi3K59F in Ddc-Gal4-expressing neurons results in decreased longevity and associated age-dependent loss of locomotor ability. Inhibition of Atg6 or Pi3K59F together with overexpression of the sole pro-survival Bcl-2 Drosophila homolog Buffy in Ddc-Gal4-expressing neurons resulted in further decrease in the survival
epidermal Ddc induction at pupariation is under the control of an extended genomic region that contains both positive and negative regulatory elements
Broad-Complex protein is required for Ddc activation at eclosion in Drosophila
evidence for a wound response pathway that senses aseptic breaks in the barrier epidermis of Drosophila embryos; a minimal 472-bp Ddc wound response enhancer requires a Grh protein binding site and the function of the grh gene
The Ddc locus exhibits a complicated pattern of variation apparently due to several evolutionary forces.
The involvement of DDC in a new pathway involved in Drosophila immunity increases the levels of dopamine, which is metabolized to produce reactive quinones that exert an antimicrobial effect on invading bacteria.
Combinatorial expression of tyrosine hydroxylase (TH), aromatic acid acid decarboxylase (AADC), and the brain-specific isoform of the vesicular monoamine transporter, VMAT2.
The encoded protein catalyzes the decarboxylation of L-3,4-dihydroxyphenylalanine (DOPA) to dopamine, L-5-hydroxytryptophan to serotonin and L-tryptophan to tryptamine. Defects in this gene are the cause of aromatic L-amino-acid decarboxylase deficiency (AADCD). AADCD deficiency is an inborn error in neurotransmitter metabolism that leads to combined serotonin and catecholamine deficiency. Multiple alternatively spliced transcript variants encoding different isoforms have been identified for this gene.
, L-aromatic dopa decarboxylase
, aromatic-L-amino acid decarboxylase
, aromatic amino acid decarboxylase
, L-Dopa decarboxylase
, aromatic L-amino acid decarboxylase
, 3,4-Dihydroxyphenylalanine decarboxylase
, dopa decarboxylase
, dopamine decarboxylase
, transcription unit No. 3
, dopa decarboxylase (aromatic L-amino acid decarboxylase)
, Aromatic-L-amino-acid decarboxylase
, aromatic-L-amino-acid decarboxylase-like