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1 AADC deficient patients fail to produce normal levels of
2 AADC immunopositive (AADC +) cells were also counted in
3 AADC levels did not decrease during development, and adu
4 AADC secreted much higher levels of IL-10, but lower lev
6 lates key disease features, including absent AADC enzyme activity and dysregulated dopamine metabolis
7 e conclude that even minute levels of active AADC are sufficient to allow for substantial amounts of
8 ity response to L-DOPA in the presence of an AADC inhibitor showed a delayed onset, yet greater inten
10 n rats and humans, co-expression of INMT and AADC mRNA in rat brain and periphery, and brain concentr
11 ation approaches, we demonstrate that TH and AADC associate with VMAT(2)-containing synaptic vesicles
14 s using 6-[(18)F]fluorodopa (FDOPA) (another AADC substrate) to measure how striatal PET signal and a
20 trophysiology, we show that 5-HT produced by AADC cells increases the excitability of spinal motoneur
22 , relies in part on DOPA decarboxylase (DDC, AADC), an enzyme that is required for normative neural o
23 lasms that possess amino acid decarboxylase (AADC) activity and can theoretically be imaged by (18)F-
24 ized by aromatic-L-amino acid decarboxylase (AADC) and indolethylamine-N-methyltransferase (INMT).
26 enzyme aromatic-L-amino acid decarboxylase (AADC) and, when incubated with the dopamine precursor, 3
28 The aromatic L-amino-acid decarboxylase (AADC) defect appears to be consistently smaller than the
33 en with aromatic l-amino acid decarboxylase (AADC) deficiency suffer from severe motor dysfunction.
34 in the L-aromatic amino acid decarboxylase (AADC) enzyme was replicated in a meta-analysis of 3 inde
36 The rat aromatic l-amino acid decarboxylase (AADC) gene contains alternative promoters which direct e
37 in the aromatic l-amino acid decarboxylase (AADC) gene result in a severe depletion of its namesake
38 TH) and L-aromatic amino acid decarboxylase (AADC) in animals housed under long photoperiod (LD) or S
39 vity of aromatic l-amino acid decarboxylase (AADC) in the corpus striatum (CS) and substantia nigra (
40 ctions of aromatic amino acid decarboxylase (AADC) in the proximal tubule, previous studies have not
41 on of the aromatic amino acid decarboxylase (AADC) inhibitor m-hydroxybenzylhydrazine attenuated thes
42 enzyme aromatic l-amino acid decarboxylase (AADC) occur not only near the central canal, as reported
43 enzyme aromatic l-amino acid decarboxylase (AADC) or the TH cofactor tetrahydrobiopterin (BH4) could
45 lation by aromatic amino acid decarboxylase (AADC), an enzyme overexpressed in these malignancies.
46 e (TH), aromatic l-amino acid decarboxylase (AADC), and GTP cyclohydrolase I (GCH1) transcription; in
47 er (DAT), aromatic amino acid decarboxylase (AADC), or vesicular monoamine type 2 were investigated.
48 ates of aromatic l-amino acid decarboxylase (AADC), the level of which is enhanced in endocrine tumor
49 enzyme aromatic L-amino acid decarboxylase (AADC), which synthesizes trace amines directly from diet
52 TH), aromatic amino acid dopa decarboxylase (AADC), and GTP cyclohydrolase 1 (CH1) in a single transc
53 rmation pathway (acetoacetate decarboxylase [AADC] and coenzyme A-transferase [CoAT]) of Clostridium
54 isease, aromatic l-amino acid decarboxylase [AADC] deficiency, and giant axonal neuropathy), ocular d
55 C; also known as L-amino acid decarboxylase; AADC) is involved in the synthesis of dopamine, norepine
56 erized aromatic l-amino acid decarboxylases (AADCs) and aromatic aldehyde synthases (AASs), which pla
58 0, encoding pyridoxal 5'-phosphate-dependent AADCs with high homology to the recently identified Petu
60 d Nicotiana benthamiana showed that all five AADC/AAS genes identified in the P trichocarpa genome en
64 ated virus (AAV) vector containing the human AADC gene (AAV2-hAADC) in four children with AADC defici
72 nzyme L-aromatic amino acid decarboxylase (L-AADC) in neural and nonneural tissue, on blood pressure
73 dministration of carbidopa, which inhibits L-AADC outside the blood-brain barrier, blunted both the i
74 nsection of the rat spinal cord at S2 level, AADC cells distal to the lesion acquire the ability to p
75 we generated mice with selective deletion of AADC in the kidney proximal tubules (referred to herein
76 Despite the significant downregulation of AADC in these strains, there were no concomitant effects
77 cally reduces the conformational dynamics of AADC, potentially lowering its binding capacity to a cof
80 which do not express the nonneuronal form of AADC resulted in activation of transfected AADC nonneuro
82 that all three strains exhibit low levels of AADC compared to the plasmid control [ATCC 824(pSOS95del
85 ived midbrain dopaminergic neuronal model of AADC deficiency from induced pluripotent stem cells.
89 ce insight into the regulatory properties of AADC and demonstrate their therapeutic potential in vasc
90 ight into the neurodevelopmental sequelae of AADC deficiency, as well as a robust platform to investi
91 efinitive diagnosis and clinical symptoms of AADC deficiency (hypotonia, dystonia, and oculogyric cri
98 ssion of the nonneuronal promoter of the rat AADC gene in the kidney epithelial cell line LLC-PK1 and
99 atic and biochemical analyses on recombinant AADC predicted that the activity of one variant could be
100 dicate that this phenotypic change in spinal AADC cells is initiated by the loss of descending 5-HT p
108 roaches, we identified a polymorphism in the AADC enzyme that contributes to somatic symptoms through
110 8)F-FDOPA PET results, pretreatment with the AADC inhibitor S-carbidopa did not affect the (18)F-l-FE
111 , the three different asRNAs directed toward AADC, along with previously reported clostridial asRNAs,
116 Midbrain gene delivery in children with AADC deficiency is feasible and safe, and leads to clini
118 Notably, INMT mRNA was colocalized with AADC transcript in rat brain tissues, in contrast to rat
120 of (18)F-FDOPA significantly correlated with AADC expression (n = 15 nonhepatic tumors; maximum stand