2-aminoadipic acid has been researched along with Aura in 22 studies
2-Aminoadipic Acid: A metabolite in the principal biochemical pathway of lysine. It antagonizes neuroexcitatory activity modulated by the glutamate receptor, N-METHYL-D-ASPARTATE; (NMDA).
2-aminoadipic acid : An alpha-amino acid that is adipic acid bearing a single amino substituent at position 2. An intermediate in the formation of lysine.
| Excerpt | Relevance | Reference |
|---|---|---|
| "The measurements of lysine metabolites provide valuable information for the rapid diagnosis of pyridoxine-dependent epilepsy (PDE)." | 7.91 | Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy. ( Gong, P; Jiang, S; Jiang, Y; Li, H; Wang, J; Wu, M; Wu, Y; Xue, J; Yang, W; Yang, Z; Yuzyuk, T; Zhang, Y, 2019) |
| "We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogenic variants in ALDH7A1 (PDE-ALDH7A1)." | 7.85 | Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy. ( Al Teneiji, A; Bruun, TU; Cordeiro, D; Inbar-Feigenberg, M; Mercimek-Mahmutoglu, S; Patel, J; Struys, E; Weiss, S, 2017) |
| "Pyridoxine-dependent epilepsy (PDE) was first described in 1954." | 7.78 | Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. ( Connolly, MB; Coulter-Mackie, M; Horvath, GA; Jakobs, C; Mercimek-Mahmutoglu, S; Nelson, T; Sargent, M; Stockler-Ipsiroglu, S; Struys, E; Waters, PJ, 2012) |
| "To evaluate the efficacy and safety of dietary lysine restriction as an adjunct to pyridoxine therapy on biochemical parameters, seizure control, and developmental/cognitive outcomes in children with pyridoxine-dependent epilepsy (PDE) caused by antiquitin (ATQ) deficiency." | 7.78 | Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. ( Bok, LA; Cheng, B; Collet, JP; Connolly, M; Coughlin, CR; Das, AM; Gospe, SM; Hartmann, H; Jaggumantri, S; Jakobs, C; Mercimek-Mahmutoglu, S; Meyer, U; Plecko, BR; Sinclair, G; Stockler, S; Struys, E; van der Lee, JH; Van Hove, J; van Karnebeek, CD, 2012) |
| "Pyridoxine-dependent epilepsy presents early in life, even in utero." | 7.78 | A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy. ( Al-Saman, AS; Rizk, TM, 2012) |
| "α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition." | 7.78 | Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. ( Al Shahwan, S; Bakkali, A; Nota, B; Salomons, GS; Struys, EA; Tabarki, B, 2012) |
| "Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-alpha-aminoadipic semialdehyde/L-Delta1-piperideine 6-carboxylate." | 7.76 | Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). ( Aylett, S; Baxter, P; Christensen, E; Clayton, PT; Craigen, WJ; De Lonlay, P; Dulac, O; Feillet, F; Footitt, EJ; Hemingway, C; Hughes, MI; Jakobs, C; Marlow, N; Mills, KA; Mills, PB; Nabbout, R; Pike, MG; Rennie, J; Schmitt, B; Struys, EA; Tuschl, K; Varadkar, S; Zuberi, SM, 2010) |
| "Recently we reported that astroglial loss and subsequent gliogenesis in the dentate gyrus play a role in epileptogenesis following pilocarpine-induced status epilepticus (SE)." | 7.74 | Spatiotemporal characteristics of astroglial death in the rat hippocampo-entorhinal complex following pilocarpine-induced status epilepticus. ( Choi, KC; Choi, SY; Kang, TC; Kim, DS; Kim, DW; Kim, JE; Kwak, SE; Kwon, OS, 2008) |
| "Diagnosis of pyridoxine-dependent epilepsy is based on the clinical response to high-dosage application of pyridoxine." | 7.70 | Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. ( Erwa, W; Jakobs, C; Paschke, E; Plecko, B; Stöckler-Ipsiroglu, S; Struys, EA, 2000) |
| " Antiquitin deficiency is the most common form of pyridoxine-dependent epilepsy." | 5.05 | Inherited Disorders of Lysine Metabolism: A Review. ( Bouchereau, J; Schiff, M, 2020) |
| "The measurements of lysine metabolites provide valuable information for the rapid diagnosis of pyridoxine-dependent epilepsy (PDE)." | 3.91 | Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy. ( Gong, P; Jiang, S; Jiang, Y; Li, H; Wang, J; Wu, M; Wu, Y; Xue, J; Yang, W; Yang, Z; Yuzyuk, T; Zhang, Y, 2019) |
| "We report treatment outcome of eleven patients with pyridoxine-dependent epilepsy caused by pathogenic variants in ALDH7A1 (PDE-ALDH7A1)." | 3.85 | Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy. ( Al Teneiji, A; Bruun, TU; Cordeiro, D; Inbar-Feigenberg, M; Mercimek-Mahmutoglu, S; Patel, J; Struys, E; Weiss, S, 2017) |
| "Pyridoxine-dependent epilepsy (PDE) was first described in 1954." | 3.78 | Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy. ( Connolly, MB; Coulter-Mackie, M; Horvath, GA; Jakobs, C; Mercimek-Mahmutoglu, S; Nelson, T; Sargent, M; Stockler-Ipsiroglu, S; Struys, E; Waters, PJ, 2012) |
| "To evaluate the efficacy and safety of dietary lysine restriction as an adjunct to pyridoxine therapy on biochemical parameters, seizure control, and developmental/cognitive outcomes in children with pyridoxine-dependent epilepsy (PDE) caused by antiquitin (ATQ) deficiency." | 3.78 | Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials. ( Bok, LA; Cheng, B; Collet, JP; Connolly, M; Coughlin, CR; Das, AM; Gospe, SM; Hartmann, H; Jaggumantri, S; Jakobs, C; Mercimek-Mahmutoglu, S; Meyer, U; Plecko, BR; Sinclair, G; Stockler, S; Struys, E; van der Lee, JH; Van Hove, J; van Karnebeek, CD, 2012) |
| "Pyridoxine-dependent epilepsy presents early in life, even in utero." | 3.78 | A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy. ( Al-Saman, AS; Rizk, TM, 2012) |
| " We assessed the susceptibility to epilepsy after subthreshold dose of pilocarpine, as well as glial fibrillary acidic protein (GFAP) expression using immunohistochemistry." | 3.78 | Reactive astrocytes contribute to increased epileptic susceptibility induced by subthreshold dose of pilocarpine. ( Feng, B; Pan, XH; Sun, HL; Wang, CY; Xu, Y; Yang, LX; Zhang, SH; Zhang, SP; Zhong, K; Zhu, W, 2012) |
| "α-Amino adipic semialdehyde (α-AASA) accumulates in body fluids from patients with pyridoxine-dependent epilepsy because of mutations in antiquitin (ALDH7A1) and serves as the biomarker for this condition." | 3.78 | Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency. ( Al Shahwan, S; Bakkali, A; Nota, B; Salomons, GS; Struys, EA; Tabarki, B, 2012) |
| "Pyridoxine-dependent epilepsy was recently shown to be due to mutations in the ALDH7A1 gene, which encodes antiquitin, an enzyme that catalyses the nicotinamide adenine dinucleotide-dependent dehydrogenation of l-alpha-aminoadipic semialdehyde/L-Delta1-piperideine 6-carboxylate." | 3.76 | Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency). ( Aylett, S; Baxter, P; Christensen, E; Clayton, PT; Craigen, WJ; De Lonlay, P; Dulac, O; Feillet, F; Footitt, EJ; Hemingway, C; Hughes, MI; Jakobs, C; Marlow, N; Mills, KA; Mills, PB; Nabbout, R; Pike, MG; Rennie, J; Schmitt, B; Struys, EA; Tuschl, K; Varadkar, S; Zuberi, SM, 2010) |
| "Recently we reported that astroglial loss and subsequent gliogenesis in the dentate gyrus play a role in epileptogenesis following pilocarpine-induced status epilepticus (SE)." | 3.74 | Spatiotemporal characteristics of astroglial death in the rat hippocampo-entorhinal complex following pilocarpine-induced status epilepticus. ( Choi, KC; Choi, SY; Kang, TC; Kim, DS; Kim, DW; Kim, JE; Kwak, SE; Kwon, OS, 2008) |
| "Diagnosis of pyridoxine-dependent epilepsy is based on the clinical response to high-dosage application of pyridoxine." | 3.70 | Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy. ( Erwa, W; Jakobs, C; Paschke, E; Plecko, B; Stöckler-Ipsiroglu, S; Struys, EA, 2000) |
| "Although epilepsy was well controlled upon treatment with pyridoxine, thiamine, phenytoin and carbamazepine since early infancy, both had developmental delay with prominent speech delay as children." | 1.38 | Variability of phenotype in two sisters with pyridoxine dependent epilepsy. ( Alfadhel, M; Coulter-Mackie, M; Sirrs, S; Stockler-Ipsiroglu, S; Struys, E; Szeitz, A; Waters, PJ, 2012) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 1 (4.55) | 18.2507 |
| 2000's | 3 (13.64) | 29.6817 |
| 2010's | 17 (77.27) | 24.3611 |
| 2020's | 1 (4.55) | 2.80 |
| Authors | Studies |
|---|---|
| Bouchereau, J | 1 |
| Schiff, M | 1 |
| Korasick, DA | 1 |
| Wyatt, JW | 1 |
| Luo, M | 1 |
| Laciak, AR | 1 |
| Ruddraraju, K | 1 |
| Gates, KS | 1 |
| Henzl, MT | 1 |
| Tanner, JJ | 1 |
| Coughlin, CR | 2 |
| Swanson, MA | 1 |
| Spector, E | 1 |
| Meeks, NJL | 1 |
| Kronquist, KE | 1 |
| Aslamy, M | 1 |
| Wempe, MF | 1 |
| van Karnebeek, CDM | 1 |
| Gospe, SM | 3 |
| Aziz, VG | 1 |
| Tsai, BP | 1 |
| Gao, H | 1 |
| Nagy, PL | 1 |
| Hyland, K | 1 |
| van Dooren, SJM | 1 |
| Salomons, GS | 2 |
| Van Hove, JLK | 1 |
| Crowther, LM | 1 |
| Mathis, D | 1 |
| Poms, M | 1 |
| Plecko, B | 2 |
| Xue, J | 1 |
| Wang, J | 1 |
| Gong, P | 1 |
| Wu, M | 1 |
| Yang, W | 1 |
| Jiang, S | 1 |
| Wu, Y | 1 |
| Jiang, Y | 1 |
| Zhang, Y | 1 |
| Yuzyuk, T | 1 |
| Li, H | 1 |
| Yang, Z | 1 |
| Jung, S | 1 |
| Tran, NT | 1 |
| Hahn, SH | 1 |
| Ferrer-López, I | 1 |
| Ruiz-Sala, P | 1 |
| Merinero, B | 1 |
| Pérez-Cerdá, C | 1 |
| Ugarte, M | 1 |
| Yang, ZX | 1 |
| Qin, J | 1 |
| Pena, IA | 1 |
| Marques, LA | 1 |
| Laranjeira, ÂB | 1 |
| Yunes, JA | 1 |
| Eberlin, MN | 1 |
| MacKenzie, A | 1 |
| Arruda, P | 1 |
| Al Teneiji, A | 1 |
| Bruun, TU | 1 |
| Cordeiro, D | 1 |
| Patel, J | 1 |
| Inbar-Feigenberg, M | 1 |
| Weiss, S | 1 |
| Struys, E | 4 |
| Mercimek-Mahmutoglu, S | 3 |
| Tang, WK | 1 |
| Wong, KB | 1 |
| Lam, YM | 1 |
| Cha, SS | 1 |
| Cheng, CH | 1 |
| Fong, WP | 1 |
| Kim, DS | 1 |
| Kim, JE | 1 |
| Kwak, SE | 1 |
| Choi, KC | 1 |
| Kim, DW | 1 |
| Kwon, OS | 1 |
| Choi, SY | 1 |
| Kang, TC | 1 |
| Mills, PB | 1 |
| Footitt, EJ | 1 |
| Mills, KA | 1 |
| Tuschl, K | 1 |
| Aylett, S | 1 |
| Varadkar, S | 1 |
| Hemingway, C | 1 |
| Marlow, N | 1 |
| Rennie, J | 1 |
| Baxter, P | 1 |
| Dulac, O | 1 |
| Nabbout, R | 1 |
| Craigen, WJ | 1 |
| Schmitt, B | 1 |
| Feillet, F | 1 |
| Christensen, E | 1 |
| De Lonlay, P | 1 |
| Pike, MG | 1 |
| Hughes, MI | 1 |
| Struys, EA | 4 |
| Jakobs, C | 5 |
| Zuberi, SM | 1 |
| Clayton, PT | 1 |
| Bok, LA | 2 |
| Emal, D | 1 |
| Houterman, S | 1 |
| Willemsen, MA | 1 |
| Horvath, GA | 1 |
| Coulter-Mackie, M | 2 |
| Nelson, T | 1 |
| Waters, PJ | 2 |
| Sargent, M | 1 |
| Stockler-Ipsiroglu, S | 3 |
| Connolly, MB | 1 |
| Alfadhel, M | 1 |
| Sirrs, S | 1 |
| Szeitz, A | 1 |
| van Karnebeek, CD | 1 |
| Hartmann, H | 1 |
| Jaggumantri, S | 1 |
| Cheng, B | 1 |
| Connolly, M | 1 |
| Das, AM | 1 |
| van der Lee, JH | 1 |
| Meyer, U | 1 |
| Sinclair, G | 1 |
| Van Hove, J | 1 |
| Collet, JP | 1 |
| Plecko, BR | 1 |
| Stockler, S | 1 |
| Al-Saman, AS | 1 |
| Rizk, TM | 1 |
| Zhu, W | 1 |
| Zhang, SH | 1 |
| Feng, B | 1 |
| Zhong, K | 1 |
| Yang, LX | 1 |
| Sun, HL | 1 |
| Zhang, SP | 1 |
| Xu, Y | 1 |
| Wang, CY | 1 |
| Pan, XH | 1 |
| Nota, B | 1 |
| Bakkali, A | 1 |
| Al Shahwan, S | 1 |
| Tabarki, B | 1 |
| Xiong, ZQ | 1 |
| Stringer, JL | 1 |
| Paschke, E | 1 |
| Erwa, W | 1 |
| Trial | Phase | Enrollment | Study Type | Start Date | Status | ||
|---|---|---|---|---|---|---|---|
| Standardized Evaluation of Long-term Neurocognitive Development of Children From Age 3 With Pyridoxine Dependent Epilepsy by Antiquitine Deficiency[NCT06054347] | 30 participants (Anticipated) | Observational | 2023-11-01 | Not yet recruiting | |||
| Neurodevelopmental Outcome of Early Dietary Lysine Restriction in Pyridoxine[NCT01795170] | 0 participants (Actual) | Observational | 2013-04-30 | Withdrawn (stopped due to The study couldn't be initiated as we did not secure funding.) | |||
| [information is prepared from clinicaltrials.gov, extracted Sep-2024] | |||||||
3 reviews available for 2-aminoadipic acid and Aura
| Article | Year |
|---|---|
Inherited Disorders of Lysine Metabolism: A Review.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Amino Acid Metabolism, Inborn Errors; Arginine; Brain; B | 2020 |
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Epilepsy; Genotype; Humans; Mutation | 2019 |
[Advances in clinical and molecular genetic research on pyridoxine dependent epilepsy].
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Anticonvulsants; Biomarkers; Brain; DNA Mutational Analy | 2013 |
19 other studies available for 2-aminoadipic acid and Aura
| Article | Year |
|---|---|
Importance of the C-Terminus of Aldehyde Dehydrogenase 7A1 for Oligomerization and Catalytic Activity.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Biocatalysis; Epilepsy; Humans; Kinetics; Lysine; Protei | 2017 |
New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Epilepsy; Humans; Lysine; Metabolic Networks and Pathway | 2019 |
Simultaneous quantification of alpha-aminoadipic semialdehyde, piperideine-6-carboxylate, pipecolic acid and alpha-aminoadipic acid in pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Biomarkers; Child; Child, Preschool; Chromatography, Liquid; Epilepsy; Female; H | 2019 |
Preliminary investigation of the use of newborn dried blood spots for screening pyridoxine-dependent epilepsy by LC-MS/MS.
Topics: 2-Aminoadipic Acid; Biomarkers; Chromatography, Liquid; Epilepsy; Female; Humans; Infant, Newborn; M | 2013 |
Determination of urinary alpha-aminoadipic semialdehyde by LC-MS/MS in patients with congenital metabolic diseases.
Topics: 2-Aminoadipic Acid; Adolescent; Child, Preschool; Chromatography, Liquid; Epilepsy; Humans; Infant; | 2014 |
Mouse lysine catabolism to aminoadipate occurs primarily through the saccharopine pathway; implications for pyridoxine dependent epilepsy (PDE).
Topics: 2-Aminoadipic Acid; Animals; Epilepsy; Female; Lysine; Metabolic Networks and Pathways; Mice; Mice, | 2017 |
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Adolescent; Aldehyde Dehydrogenase; Arginine; Child; Child, Preschool; Cohort St | 2017 |
The crystal structure of seabream antiquitin reveals the structural basis of its substrate specificity.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Animals; Crystallography, X-Ray; Epilepsy; Fish Proteins | 2008 |
Spatiotemporal characteristics of astroglial death in the rat hippocampo-entorhinal complex following pilocarpine-induced status epilepticus.
Topics: 2-Aminoadipic Acid; Animals; Astrocytes; Cell Death; Cell Proliferation; Convulsants; Disease Models | 2008 |
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Biomarkers; Epilepsy; Female; Genotype; Humans; Infant; | 2010 |
The measurement of urinary Δ¹-piperideine-6-carboxylate, the alter ego of α-aminoadipic semialdehyde, in Antiquitin deficiency.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Diet; Epilepsy; Humans; Lysine; Picolinic Acids | 2012 |
Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Acidosis, Lactic; Aldehyde Dehydrogenase; Alleles; Anticonvulsants; Brain; Diffu | 2012 |
Variability of phenotype in two sisters with pyridoxine dependent epilepsy.
Topics: 2-Aminoadipic Acid; Disease Progression; Epilepsy; Female; Humans; Phenotype; Siblings; Young Adult | 2012 |
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Child; Child, Preschool; Cognition; Diet; Epilepsy; Fema | 2012 |
A case of extreme prematurity and delayed diagnosis of pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Electroencephalography; Epilepsy; Humans; Infant; Magnetic Resonance Imaging; Ma | 2012 |
Reactive astrocytes contribute to increased epileptic susceptibility induced by subthreshold dose of pilocarpine.
Topics: 2-Aminoadipic Acid; Analysis of Variance; Animals; Astrocytes; Brain; Disease Models, Animal; Diseas | 2012 |
Pyridoxine-dependent epilepsy with elevated urinary α-amino adipic semialdehyde in molybdenum cofactor deficiency.
Topics: 2-Aminoadipic Acid; Aldehyde Dehydrogenase; Brain; Child, Preschool; Consanguinity; Developmental Di | 2012 |
Astrocytic regulation of the recovery of extracellular potassium after seizures in vivo.
Topics: 2-Aminoadipic Acid; Action Potentials; Animals; Astrocytes; Citrates; Dentate Gyrus; Electrophysiolo | 1999 |
Pipecolic acid elevation in plasma and cerebrospinal fluid of two patients with pyridoxine-dependent epilepsy.
Topics: 2-Aminoadipic Acid; Child; Epilepsy; Humans; Infant, Newborn; Male; Picolinic Acids; Pipecolic Acids | 2000 |