| Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling. | Detection of hidden intronic DDC variant in aromatic L-amino acid decarboxylase deficiency by adaptive sampling.
Koshimizu E, Kato M, Misawa K, Uchiyama Y, Tsuchida N, Hamanaka K, Fujita A, Mizuguchi T, Miyatake S, Matsumoto N. | 03/28/2024 |
| L-Dopa decarboxylase modulates autophagy in hepatocytes and is implicated in dengue virus-caused inhibition of autophagy completion. | L-Dopa decarboxylase modulates autophagy in hepatocytes and is implicated in dengue virus-caused inhibition of autophagy completion.
Tsopela V, Korakidis E, Lagou D, Kalliampakou KI, Milona RS, Kyriakopoulou E, Mpekoulis G, Gemenetzi I, Stylianaki EA, Sideris CD, Sioli A, Kefallinos D, Sideris DC, Aidinis V, Eliopoulos AG, Kambas K, Vassilacopoulou D, Vassilaki N. | 12/6/2023 |
| DOPA decarboxylase is an emerging biomarker for Parkinsonian disorders including preclinical Lewy body disease. | DOPA decarboxylase is an emerging biomarker for Parkinsonian disorders including preclinical Lewy body disease.
Pereira JB, Kumar A, Hall S, Palmqvist S, Stomrud E, Bali D, Parchi P, Mattsson-Carlgren N, Janelidze S, Hansson O., Free PMC Article | 11/3/2023 |
| Long-Term Outcomes of Eladocagene Exuparvovec Compared with Standard of Care in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Modelling Study. | Long-Term Outcomes of Eladocagene Exuparvovec Compared with Standard of Care in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Modelling Study.
Simons CL, Hwu WL, Zhang R, Simons MJHG, Bergkvist M, Bennison C., Free PMC Article | 11/1/2023 |
| RNA modification regulator DDC in endometrial cancer affects the tumor microenvironment and patient prognosis. | RNA modification regulator DDC in endometrial cancer affects the tumor microenvironment and patient prognosis.
Zhao H, Shi C, Zhao G, Liu J, Wang X, Liang J, Li F., Free PMC Article | 11/1/2023 |
| Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes. | Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.
Himmelreich N, Bertoldi M, Alfadhel M, Alghamdi MA, Anikster Y, Bao X, Bashiri FA, Zeev BB, Bisello G, Ceylan AC, Chien YH, Choy YS, Elsea SH, Flint L, García-Cazorla À, Gijavanekar C, Gümüş EY, Hamad MH, Hişmi B, Honzik T, Hübschmann OK, Hwu WL, Ibáñez-Micó S, Jeltsch K, Juliá-Palacios N, Kasapkara ÇS, Kurian MA, Kusmierska K, Liu N, Ngu LH, Odom JD, Ong WP, Opladen T, Oppeboen M, Pearl PL, Pérez B, Pons R, Rygiel AM, Shien TE, Spaull R, Sykut-Cegielska J, Tabarki B, Tangeraas T, Thöny B, Wassenberg T, Wen Y, Yakob Y, Yin JGC, Zeman J, Blau N. | 07/5/2023 |
| Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review. | Aromatic L-amino acid decarboxylase deficiency in countries in the Middle East: a case series and literature review.
Abukhaled M, Al Muqbil M, Alghamdi MA, Hundallah K, Suleiman J, Ben-Omran T, Alfadhel M, Almannai M, Alsaleh R, Tabarki B., Free PMC Article | 06/21/2023 |
| Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations. | Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations.
Himmelreich N, Montioli R, Garbade SF, Kopesky J, Elsea SH, Carducci C, Voltattorni CB, Blau N. | 01/7/2023 |
| Symptoms and impacts of aromatic L-amino acid decarboxylase (AADC) deficiency among individuals with different levels of motor function. | Symptoms and impacts of aromatic L-amino acid decarboxylase (AADC) deficiency among individuals with different levels of motor function.
Williams K, Skrobanski H, Buesch K, Acaster S., Free PMC Article | 04/23/2022 |
| Alteration of L-Dopa decarboxylase expression in SARS-CoV-2 infection and its association with the interferon-inducible ACE2 isoform. | Alteration of L-Dopa decarboxylase expression in SARS-CoV-2 infection and its association with the interferon-inducible ACE2 isoform.
Mpekoulis G, Frakolaki E, Taka S, Ioannidis A, Vassiliou AG, Kalliampakou KI, Patas K, Karakasiliotis I, Aidinis V, Chatzipanagiotou S, Angelakis E, Vassilacopoulou D, Vassilaki N., Free PMC Article | 09/18/2021 |
| Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience. | Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: The northeastern Italian experience.
Burlina A, Giuliani A, Polo G, Gueraldi D, Gragnaniello V, Cazzorla C, Opladen T, Hoffmann G, Blau N, Burlina AP. | 08/21/2021 |
| [Association of polymorphic variants of DDC (AADC), AANAT and ASMT genes encoding enzymes for melatonin synthesis with the higher risk of neuropsychiatric disorders].", trans "Assotsiatsiya polimorfizmov genov DDC (AADC), AANAT i ASMT, kodiruyushchikh fermenty sinteza melatonina, s riskom razvitiya psikhonevrologicheskikh rasstroistv. | [Association of polymorphic variants of DDC (AADC), AANAT and ASMT genes encoding enzymes for melatonin synthesis with the higher risk of neuropsychiatric disorders].
Moskaleva PV, Shnayder NA, Nasyrova RF. | 07/24/2021 |
| Longitudinal study of striatal aromatic l-amino acid decarboxylase activity in patients with idiopathic rapid eye movement sleep behavior disorder. | Longitudinal study of striatal aromatic l-amino acid decarboxylase activity in patients with idiopathic rapid eye movement sleep behavior disorder.
Miyamoto M, Miyamoto T, Saitou J, Sato T. | 07/17/2021 |
| Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency. | Semi-quantitative detection of a vanillactic acid/vanillylmandelic acid ratio in urine is a reliable diagnostic marker for aromatic L-amino acid decarboxylase deficiency.
Brennenstuhl H, Garbade SF, Okun JG, Feyh P, Hoffmann GF, Langhans CD, Opladen T. | 07/3/2021 |
| Human L-Dopa decarboxylase interaction with annexin V and expression during apoptosis. | Human L-Dopa decarboxylase interaction with annexin V and expression during apoptosis.
Chalatsa I, Arvanitis N, Arvanitis D, Tsakou AC, Kalantzis ED, Vassiliou AG, Sideris DC, Frakolaki E, Vassilaki N, Vassilacopoulou D. | 05/29/2021 |
| Polymorphism in ASCL1 target gene DDC is associated with clinical outcomes of small cell lung cancer patients. | Polymorphism in ASCL1 target gene DDC is associated with clinical outcomes of small cell lung cancer patients.
Kim JH, Lee SY, Choi JE, Do SK, Lee JH, Hong MJ, Kang HG, Lee WK, Shin KM, Jeong JY, Choi SH, Lee YH, Seo H, Yoo SS, Lee J, Cha SI, Kim CH, Park JY., Free PMC Article | 05/15/2021 |
| The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China. | The genetic and clinical characteristics of aromatic L-amino acid decarboxylase deficiency in mainland China.
Wen Y, Wang J, Zhang Q, Chen Y, Bao X., Free PMC Article | 04/17/2021 |
| Revised Exon Structure of l-DOPA Decarboxylase (DDC) Reveals Novel Splice Variants Associated with Colorectal Cancer Progression. | Revised Exon Structure of l-DOPA Decarboxylase (DDC) Reveals Novel Splice Variants Associated with Colorectal Cancer Progression.
Artemaki PI, Papatsirou M, Boti MA, Adamopoulos PG, Christodoulou S, Vassilacopoulou D, Scorilas A, Kontos CK., Free PMC Article | 03/6/2021 |
| Next-generation sequencing reveals alternative L-DOPA decarboxylase (DDC) splice variants bearing novel exons, in human hepatocellular and lung cancer cells. | Next-generation sequencing reveals alternative L-DOPA decarboxylase (DDC) splice variants bearing novel exons, in human hepatocellular and lung cancer cells.
Papatsirou M, Adamopoulos PG, Artemaki PI, Georganti VP, Scorilas A, Vassilacopoulou D, Kontos CK. | 02/2/2021 |
| Upon hypertonic stress, in dopaminergic neural cell lines NFAT5 was activated and accumulated into the nuclei and the expression of NFAT5 increased but expression of DDC decreased. Silencing the expression of NFAT5 with a specific shRNA revealed that downregulation of DDC is independent from NFAT5. NFAT5 does not regulate the expression of the neuronal isoform of DDC in neural dopaminergic cell lines. | DDC expression is not regulated by NFAT5 (TonEBP) in dopaminergic neural cell lines.
Pineda-Cirera L, Cabana-Domínguez J, Benetó N, Diez H, Arenas C, Cormand B, Fernàndez-Castillo N. | 06/6/2020 |
| A genetic variant of AADC was identified in a polymorphism that contributes to somatic symptoms in chronic pain. | A functional substitution in the L-aromatic amino acid decarboxylase enzyme worsens somatic symptoms via a serotonergic pathway.
Khoury S, Piltonen MH, Ton AT, Cole T, Samoshkin A, Smith SB, Belfer I, Slade GD, Fillingim RB, Greenspan JD, Ohrbach R, Maixner W, Neely GG, Serohijos AWR, Diatchenko L. | 04/4/2020 |
| This report describes 2 previously unknown patients with AADC deficiency and confirmed the presence of 2 DDC gene variants, NM_000790.3: c.48C > A (p.Tyr16Ter) and NM_000790.3: c.116G > C (p.Arg39ProNM_000790.3: c.48C > A (p.Tyr16Ter) and NM_000790.3: c.116G > C (p.Arg39Pro), not previously associated with this disorde | Case report: discovery of 2 gene variants for aromatic L-amino acid decarboxylase deficiency in 2 African American siblings.
Monteleone B, Hyland K., Free PMC Article | 04/4/2020 |
| Study identified novel DDC mRNA isoforms spliced with a new exon (exon 6a) in normal and c.714+4A>T lymphoblastoid cells from patients with aromatic l-amino acid decarboxylase deficiency (AADCD). | Antisense oligonucleotides modulate dopa decarboxylase function in aromatic l-amino acid decarboxylase deficiency.
Tsai CR, Lee HF, Chi CS, Yang MT, Hsu CC. | 10/12/2019 |
| results demonstrate that the human L-dopa decaroxylase gene undergoes complex processing leading to the figuration of multiple mRNA isoforms in cancer cells | Identification of novel alternative splice variants of the human L-DOPA decarboxylase (DDC) gene in human cancer cells, using high-throughput sequencing approaches.
Adamopoulos PG, Tsiakanikas P, Kontos CK, Panagiotou A, Vassilacopoulou D, Scorilas A. | 10/5/2019 |
| 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 | Heterozygosis in aromatic amino acid decarboxylase deficiency: Evidence for a positive interallelic complementation between R347Q and R358H mutations.
Montioli R, Janson G, Paiardini A, Bertoldi M, Borri Voltattorni C. | 02/2/2019 |