Reference on EC 1.2.1.31 - L-aminoadipate-semialdehyde dehydrogenase
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REF. 
AUTHORS
TITLE
JOURNAL
VOL.
PAGES
YEAR
ORGANISM (UNIPROT)
PUBMED ID
SOURCE
Schmidt, H.; Bode, R.; Birnbaum D.
Inhibition of alpha-aminoadipate-semialdehyde dehydrogenase from Trichosporon adeninovorans by lysine and lysine analogues
FEMS Microbiol. Lett.
70
41-44
1990
Blastobotrys adeninivorans
Chang, Y.F.; Ghosh, P.; Rao, V.V.
L-pipecolic acid metabolism in human liver: L-alpha-aminoadipate delta-semialdehyde oxidoreductase
Biochim. Biophys. Acta
1038
300-305
1990
BRENDA: Homo sapiens
Textmining: Pseudomonas putida
Samsonova, I.A.; Böttcher, F.; Werner, C.; Bode, R.
Auxotrophic mutants of the yeast Trichosporon adeninovorans
J. Basic Microbiol.
29
675-683
1989
Blastobotrys adeninivorans
Schmidt, H.; Bode, R.; Samsonova, I.A.; Birnbaum, D.
Isolation and characterization of alpha-aminoadipate-delta-semialdehyde overproducing mutants from yeasts
FEMS Microbiol. Lett.
60
201-204
1989
Meyerozyma guilliermondii, Candida maltosa
-
Storts, D.R.; Bhattacharjee, J.K.
Properties of revertants of lys2 and lys5 mutants as well as alpha-aminoadipate-semialdehyde dehydrogenase from Saccharomyces cerevisiae
Biochem. Biophys. Res. Commun.
161
182-186
1989
BRENDA: Saccharomyces cerevisiae
Textmining: yeasts
Ye, Z.H.; Bhattacharjee, J.K.
Lysine biosynthesis pathway and biochemical blocks of lysine auxotrophs of Schizosaccharomyces pombe
J. Bacteriol.
170
5968-5970
1988
Schizosaccharomyces pombe
Eibel, H.; Philippsen, P.
Identification of the cloned S. cerevisiae LYS2 gene by an integrative transformation approach
Mol. Gen. Genet.
191
66-73
1983
Saccharomyces cerevisiae
Schmidt, H.; Bode, R.; Lindner, M.; Birnbaum, D.
Lysine biosynthesis in the yeast Candida maltosa: properties of some enzymes and regulation of the biosynthetic pathway
J. Basic Microbiol.
25
675-681
1985
Candida maltosa
-
Tsai, C.H.; Henderson, L.M.
Degradation of O-phosphohydroxylysine in rat liver. Purification and properties of 2-aminoadipic semialdehyde dehydrogenase
J. Biol. Chem.
249
5790-5792
1974
BRENDA: Rattus norvegicus
Textmining: Rattus
Rodwell, V.W.
delta1-piperideine-6-carboxylic acid and alpha-aminoadipic acid delta-semialdehyde
Methods Enzymol.
17B
188-199
1971
Pseudomonas putida
-
Calvert, A.F.; Rodwell, V.W.
Metabolism of pipecolic acid in a Pseudomonas species. 3. L-alpha-aminoadipate delta-semialdehyde:nicotinamide adenine dinucleotide oxidoreductase
J. Biol. Chem.
241
409-414
1966
BRENDA: Pseudomonas sp.
Textmining: Pseudomonas
Fleig, U.N.; Pridmore, R.D.; Philippsen, P.
Construction of LYS2 cartridges for use in genetic manipulations of Saccharomyces cerevisiae
Gene
46
237-245
1986
Saccharomyces cerevisiae
Barnes, D.A.; Thorner, J.
Genetic manipulation of Saccharomyces cerevisiae by use of the LYS2 Gene
Mol. Cell. Biol.
6
2828-2838
1986
Saccharomyces cerevisiae
Ford, R.A.; Bhattacharjee, J.K.
Molecular properties of the lys1+ gene and the regulation of.alpha-aminoadipate reductase in Schizosaccharomyces pombe
Curr. Genet.
28
131-137
1995
Saccharomyces cerevisiae, Schizosaccharomyces pombe
Suvarna, K.; Seah, L.; Bhattacherjee, V.; Bhattacharjee, J.K.
Molecular analysis of the LYS2 gene of Candida albicans: homology to peptide antibiotic synthetases and the regulation of the.alpha-aminoadipate reductase
Curr. Genet.
33
268-275
1998
BRENDA: Saccharomyces cerevisiae, Candida albicans
Textmining: Fungi
Casqueiro, J.; Gutierrez, S.; Banuelos, O.; Fierro, F.; Velasco, J.; Martin, J.F.
Characterization of the lys2 gene of Penicillium chrysogenum encoding.alpha-aminoadipic acid reductase
Mol. Gen. Genet.
259
549-556
1998
Penicillium chrysogenum
Ehmann, D.E.; Gehring, A.M.; Walsh, C.T.
Lysine biosynthesis in Saccharomyces cerevisiae: mechanism of alpha-aminoadipate reductase (Lys2) involves posttranslational phosphopantetheinylation by Lys5
Biochemistry
38
6171-6177
1999
Saccharomyces cerevisiae
Praphanphoj, V.; Sacksteder, K.A.; Gould, S.J.; Thomas, G.H.; Geraghty, M.T.
Identification of the.alpha-Aminoadipic Semialdehyde Dehydrogenase-Phosphopantetheinyl Transferase Gene, the Human Ortholog of the Yeast LYS5 Gene
Mol. Genet. Metab.
72
336-342
2001
BRENDA: Homo sapiens
Textmining: Mammalia, Saccharomyces cerevisiae
Hijarrubia, M.J.; Aparicio, J.F.; Casqueiro, J.; Martin, J.F.
Characterization of the lys2 gene of Acremonium chrysogenum encoding a functional.alpha-aminoadipate activating and reducing enzyme
Mol. Gen. Genet.
264
755-762
2001
Acremonium chrysogenum
Guo, S.; Evans, S.A.; Wilkes, M.B.; Bhattacharjee, J.K.
Novel posttranslational activation of the LYS2-encoded.alpha-aminoadipate reductase for biosynthesis of lysine and site-directed mutational analysis of conserved amino acid residues in the activation domain of Candida albicans
J. Bacteriol.
183
7120-7125
2001
Candida albicans
Perez-Campo, F.M.; Nicaud, J.M.; Gaillardin, C.; Dominguez, A.
Cloning and sequencing of the LYS1 gene encoding homocitrate synthase in the yeast Yarrowia lipolytica
Yeast
12
1459-1469
1996
Azotobacter vinelandii, Klebsiella
Joshi, A.K.; Zhang, L.; Rangan, V.S.; Smith, S.
Cloning, expression, and characterization of a human 4'-phosphopantetheinyl transferase with broad substrate specificity
J. Biol. Chem.
278
33142-33149
2003
Homo sapiens
Hijarrubia, M.J.; Aparicio, J.F.; Martin, J.F.
Nitrate regulation of alpha-aminoadipate reductase formation and lysine inhibition of its activity in Penicillium chrysogenum and Acremonium chrysogenum
Appl. Microbiol. Biotechnol.
59
270-277
2002
BRENDA: Acremonium chrysogenum, Penicillium chrysogenum
Textmining: Fungi, Electron, yeasts
Fong, W.P.; Cheng, C.H.K.; Tang, W.K.
Purification and characterization of two distinct aldehyde oxidizing enzymes from the liver of black seabream
Chem. -Biol. Interact.
143-144
159-167
2003
Homo sapiens
Hijarrubia, M.J.; Aparicio, J.F.; Martin, J.F.
Domain structure characterization of the multifunctional alpha-aminoadipate reductase from Penicillium chrysogenum by limited proteolysis. Activation of alpha-aminoadipate does not require the peptidyl carrier protein box or the reduction domain
J. Biol. Chem.
278
8250-8256
2003
Penicillium chrysogenum
Alberti, A.; Ferrero, I.; Lodi, T.
LYS2 gene and its mutation in Kluyveromyces lactis
Yeast
20
1171-1175
2003
Kluyveromyces lactis (Q8NJ21)
Guo, S.; Bhattacharjee, J.K.
Posttranslational activation, site-directed mutation and phylogenetic analyses of the lysine biosynthesis enzymes alpha-aminoadipate reductase Lys1p (AAR) and the phosphopantetheinyl transferase Lys7p (PPTase) from Schizosaccharomyces pombe
Yeast
21
1279-1288
2004
BRENDA: Schizosaccharomyces pombe
Textmining: Escherichia coli, Saccharomyces cerevisiae, Candida albicans, animal, Fungi
Wang, L.; Jil, C.; Xu, Y.; Xu, J.; Dai, J.; Wu, Q.; Wu, M.; Zou, X.; Sun, L.; Gu, S.; Xie, Y.; Mao, Y.
Cloning and characterization of a novel human homolog of mouse U26, a putative PQQ-dependent AAS dehydrogenase
Mol. Biol. Rep.
32
47-53
2005
BRENDA: Homo sapiens (Q4L235), Homo sapiens
Textmining: Mus musculus
Felton, L.M.; Anthony, C.
Biochemistry: role of PQQ as a mammalian enzyme cofactor?
Nature
433
E10
2005
Mammalia
Rucker, R.; Storms, D.; Sheets, A.; Tchaparian, E.; Fascetti, A.
Biochemistry: Is pyrroloquinoline quinone a vitamin?
Nature
433
E10-1
2005
Mus musculus, Rattus norvegicus
Marchitti, S.A.; Deitrich, R.A.; Vasiliou, V.
Neurotoxicity and metabolism of the catecholamine-derived 3,4-dihydroxyphenylacetaldehyde and 3,4-dihydroxyphenylglycolaldehyde: the role of aldehyde dehydrogenase
Pharmacol. Rev.
59
125-150
2007
Homo sapiens (P49419)
Alnouti, Y.; Klaassen, C.D.
Tissue distribution, ontogeny, and regulation of aldehyde dehydrogenase (Aldh) enzymes mRNA by prototypical microsomal enzyme inducers in mice
Toxicol. Sci.
101
51-64
2008
Mus musculus (Q9DBF1)
Isobe, K.; Fukuda, N.; Nagasawa, S.
Analysis of selective production of Nalpha-benzyloxycarbonyl-L-aminoadipate-delta-semialdehyde and Nalpha-benzyloxycarbonyl-L-aminoadipic acid by Rhodococcus sp. AIU Z-35-1
J. Biosci. Bioeng.
105
152-156
2008
Rhodococcus sp., Rhodococcus sp. AIU Z-35-1
Struys, E.A; Jakobs, C.
Alpha-aminoadipic semialdehyde is the biomarker for pyridoxine dependent epilepsy caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency
Mol. Genet. Metab.
91
405
2007
Homo sapiens
Stagos, D.; Chen, Y.; Cantore, M.; Jester, J.V.; Vasiliou, V.
Corneal aldehyde dehydrogenases: multiple functions and novel nuclear localization
Brain Res. Bull.
81
211-218
2010
Mus musculus (P47738), Mus musculus (Q3UNF5), Mus musculus (Q9CZS1), Mus musculus (Q9DBF1), Mus musculus, Mus musculus (Q9JHW9)
Struys, E.A.; Jakobs, C.
Metabolism of lysine in alpha-aminoadipic semialdehyde dehydrogenase-deficient fibroblasts: evidence for an alternative pathway of pipecolic acid formation
FEBS Lett.
584
181-186
2010
Homo sapiens
Brocker, C.; Lassen, N.; Estey, T.; Pappa, A.; Cantore, M.; Orlova, V.V.; Chavakis, T.; Kavanagh, K.L.; Oppermann, U.; Vasiliou, V.
Aldehyde dehydrogenase 7A1 (ALDH7A1) is a novel enzyme involved in cellular defense against hyperosmotic stress
J. Biol. Chem.
285
18452-18463
2010
Homo sapiens, Cricetulus griseus, Mus sp., plant
Luo, M.; Tanner, J.J.
Structural basis of substrate recognition by aldehyde dehydrogenase 7A1
Biochemistry
54
5513-5522
2015
Homo sapiens (P49419), Homo sapiens
Korasick, D.A.; White, T.A.; Chakravarthy, S.; Tanner, J.J.
NAD+ promotes assembly of the active tetramer of aldehyde dehydrogenase 7A1
FEBS Lett.
592
3229-3238
2018
Homo sapiens (P49419)
Arruda, P.; Barreto, P.
Lysine catabolism through the saccharopine pathway enzymes and intermediates involved in plant responses to abiotic and biotic stress
Front. Plant Sci.
11
587
2020
Arabidopsis thaliana
Coughlin, C.R.; Tseng, L.A.; Abdenur, J.E.; Ashmore, C.; Boemer, F.; Bok, L.A.; Boyer, M.; Buhas, D.; Clayton, P.T.; Das, A.; Dekker, H.; Evangeliou, A.; Feillet, F.; Footitt, E.J.; Gospe, S.M.; Hartmann, H.; Kara, M.; Kristensen, E.; Lee, J.; Lilje, R.; Longo, N.; Lunsing, R.J.; Mills, P.; Papadopoulou, M.T.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency
J. Inherit. Metab. Dis.
44
178-192
2021
Homo sapiens (P49419)
Yoshida, A; Rzhetsky, A; Hsu, LC; Chang, C
Human aldehyde dehydrogenase gene family.
Eur J Biochem
251
549-57
1998
Homo sapiens
Missihoun, TD; Hou, Q; Mertens, D; Bartels, D
Sequence and functional analyses of the aldehyde dehydrogenase 7B4 gene promoter in Arabidopsis thaliana and selected Brassicaceae: regulation patterns in response to wounding and osmotic stress.
Planta
2014
Brassicaceae
Skvorak, AB; Robertson, NG; Yin, Y; Weremowicz, S; Her, H; Bieber, FR; Beisel, KW; Lynch, ED; Beier, DR; Morton, CC
An ancient conserved gene expressed in the human inner ear: identification, expression analysis, and chromosomal mapping of human and mouse antiquitin (ATQ1).
Genomics
46
191-9
1997
Homo sapiens, Mus musculus, Rattus
Chan, WM; Tang, WK; Cheng, CH; Fong, WP
Purification, N-terminal sequence determination and enzymatic characterization of antiquitin from the liver of grass carp.
Comp Biochem Physiol B Biochem Mol Biol
136
443-50
2003
Ctenopharyngodon idella
Plecko, B; Paul, K; Paschke, E; Stoeckler-Ipsiroglu, S; Struys, E; Jakobs, C; Hartmann, H; Luecke, T; di Capua, M; Korenke, C; Hikel, C; Reutershahn, E; Freilinger, M; Baumeister, F; Bosch, F; Erwa, W
Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene.
Hum Mutat
28
19-26
2007
Homo sapiens
Chan, CB; Tang, WK; Cheng, CH; Fong, WP
Cloning of the black seabream (Acanthopagrus schlegeli) antiquitin gene and functional characterization of its promoter region.
Mol Cell Biochem
297
151-60
2007
Spondyliosoma cantharus
Mura, A; Pintus, F; Medda, R; Floris, G; Rinaldi, AC; Padiglia, A
Catalase and antiquitin from Euphorbia characias: two proteins involved in plant defense?
Biochemistry (Mosc)
72
501-8
2007
Euphorbia characias, plant, Euphorbia
Bennett, CL; Chen, Y; Hahn, S; Glass, IA; Gospe, SM
Prevalence of ALDH7A1 mutations in 18 North American pyridoxine-dependent seizure (PDS) patients.
Epilepsia
2008
Homo sapiens
Chan, CL; Wong, JW; Wong, CP; Chan, MK; Fong, WP
Human antiquitin: Structural and functional studies.
Chem Biol Interact
2010
Homo sapiens
Coulter-Mackie, MB; Li, A; Lian, Q; Struys, E; Stockler, S; Waters, PJ
Overexpression of human antiquitin in E. coli: Enzymatic characterization of twelve ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
Mol Genet Metab
106
478-81
2012
Escherichia coli, Homo sapiens
Giacalone, NJ; Den, RB; Eisenberg, R; Chen, H; Olson, SJ; Massion, PP; Carbone, DP; Lu, B
ALDH7A1 expression is associated with recurrence in patients with surgically resected non-small-cell lung carcinoma.
Future Oncol
9
737-45
2013
Homo sapiens
Coulter-Mackie, MB; Tiebout, S; van Karnebeek, C; Stockler, S
Overexpression of recombinant human antiquitin in E. coli: Partial enzyme activity in selected ALDH7A1 missense mutations associated with pyridoxine-dependent epilepsy.
Mol Genet Metab
111
462-6
2014
Escherichia coli, Homo sapiens
Yang, Z; Yang, X; Wu, Y; Wang, J; Zhang, Y; Xiong, H; Jiang, Y; Qin, J
Clinical Diagnosis, Treatment, and ALDH7A1 Mutations in Pyridoxine-Dependent Epilepsy in Three Chinese Infants.
PLoS One
9
e92803
2014
Homo sapiens
Nasr, E; Mamak, E; Feigenbaum, A; Donner, EJ; Mercimek-Mahmutoglu, S
Long-Term Treatment Outcome of two Patients With Pyridoxine-Dependent Epilepsy Caused by ALDH7A1 Mutations: Normal Neurocognitive Outcome.
J Child Neurol
2014
Homo sapiens
Babcock, HE; Dutta, S; Alur, RP; Brocker, C; Vasiliou, V; Vitale, S; Abu-Asab, M; Brooks, BP
aldh7a1 regulates eye and limb development in zebrafish.
PLoS One
9
e101782
2014
Danio rerio
Tincheva, S; Todorov, T; Todorova, A; Georgieva, R; Stamatov, D; Yordanova, I; Kadiyska, T; Georgieva, B; Bojidarova, M; Tacheva, G; Litvinenko, I; Mitev, V
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
Neurol Sci
36
2209-12
2015
Bulgaria, Homo sapiens
Liu, PF; Du, Y; Meng, L; Li, X; Liu, Y
ALDH7A1 is a protein that protects Atlantic salmon against Aeromonas salmonicida at the early stages of infection.
Fish Shellfish Immunol
70
30-39
2017
Aeromonas salmonicida, Salmo salar
Zabinyakov, N; Bullivant, G; Cao, F; Fernandez Ojeda, M; Jia, ZP; Wen, XY; Dowling, JJ; Salomons, GS; Mercimek-Andrews, S
Characterization of the first knock-out aldh7a1 zebrafish model for pyridoxine-dependent epilepsy using CRISPR-Cas9 technology.
PLoS One
12
e0186645
2017
Danio rerio, Homo sapiens
Pena, IA; Roussel, Y; Daniel, K; Mongeon, K; Johnstone, D; Weinschutz Mendes, H; Bosma, M; Saxena, V; Lepage, N; Chakraborty, P; Dyment, DA; van Karnebeek, CDM; Verhoeven-Duif, N; Bui, TV; Boycott, KM; Ekker, M; MacKenzie, A
Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
Genetics
207
1501-1518
2017
Danio rerio
Crowther, LM; Mathis, D; Poms, M; Plecko, B
New insights into human lysine degradation pathways with relevance to pyridoxine dependent epilepsy due to antiquitin deficiency.
J Inherit Metab Dis
2019
Homo sapiens
Boehm, T; Hubmann, H; Petroczi, K; Mathis, D; Klavins, K; Fauler, G; Plecko, B; Struys, E; Jilma, B
Condensation of delta-1-piperideine-6-carboxylate with ortho-aminobenzaldehyde allows its simple, fast, and inexpensive quantification in the urine of patients with antiquitin deficiency.
J Inherit Metab Dis
2020
Homo sapiens
Lee, HF; Chi, CS; Tsai, CR
Electroclinical variability of pyridoxine-dependent epilepsy caused by ALDH7A1 gene mutations in four Taiwanese children.
Brain Dev
2020
Homo sapiens
Kava, MP; Bryant, L; Rowe, P; Lewis, B; Greed, L; Balasubramaniam, S
Beneficial outcome of early dietary lysine restriction as an adjunct to pyridoxine therapy in a child with pyridoxine dependant epilepsy due to Antiquitin deficiency.
JIMD Rep
54
9-15
2020
Homo sapiens
Al-Shekaili, HH; Petkau, TL; Pena, I; Lengyell, TC; Verhoeven-Duif, NM; Ciapaite, J; Bosma, M; van Faassen, M; Kema, IP; Horvath, G; Ross, C; Simpson, EM; Friedman, JM; Karnebeek, C; Leavitt, BR
A Novel Mouse Model for Pyridoxine-Dependent Epilepsy Due to Antiquitin Deficiency.
Hum Mol Genet
2020
Mus musculus, Mus sp.
Lee, JS; Lee, H; Woo, SM; Jang, H; Jeon, Y; Kim, HY; Song, J; Lee, WJ; Hong, EK; Park, SJ; Han, SS; Kim, SY
Overall survival of pancreatic ductal adenocarcinoma is doubled by Aldh7a1 deletion in the KPC mouse.
Theranostics
11
3472-3488
2021
Mus musculus, Mus sp.
Li, X; Fan, K; Liu, Y; Liu, Y; Liu, PF
Administration of a recombinant ALDH7A1 (rA7) indicates potential regulation of the metabolite and immunology pathways in Atlantic salmon infected with Aeromonas salmonicida.
J Fish Dis
44
961-977
2021
Aeromonas salmonicida, Salmo salar
Rodrigues, SM; Andrade, MO; Gomes, AP; Damatta, FM; Baracat-Pereira, MC; Fontes, EP
Arabidopsis and tobacco plants ectopically expressing the soybean antiquitin-like ALDH7 gene display enhanced tolerance to drought, salinity, and oxidative stress.
J Exp Bot
57
1909-18
2006
Glycine max
Guo, S; Garrad, RC; Bhattacharjee, JK
Functional analysis through site-directed mutations and phylogeny of the Candida albicans LYS1-encoded saccharopine dehydrogenase.
Mol Genet Genomics
275
74-80
2006
Candida albicans
Affenzeller, K; Jaklitsch, WM; Hönlinger, C; Kubicek, CP
Lysine biosynthesis in Penicillium chrysogenum is regulated by feedback inhibition of alpha-aminoadipate reductase.
FEMS Microbiol Lett
49
293-7
1989
Penicillium chrysogenum
Aleksunes, LM; Klaassen, CD
Coordinated regulation of hepatic phase I and II drug-metabolizing genes and transporters using AhR-, CAR-, PXR-, PPAR?-, and Nrf2-null mice.
Drug Metab Dispos
40
1366-79
2012
Mus sp.
Xu, Z; Zhang, S; Nian, F; Xu, S
Identification of a glycolysis-related gene signature associated with clinical outcome for patients with lung squamous cell carcinoma.
Cancer Med
10
4017-4029
2021
Homo sapiens
Huang, G; Zhang, J; Gong, L; Huang, Y; Liu, D
A glycolysis-based three-gene signature predicts survival in patients with lung squamous cell carcinoma.
BMC Cancer
21
626
2021
Homo sapiens
Badino, P; Odore, R; Re, G
Are so many adrenergic receptor subtypes really present in domestic animal tissues? A pharmacological perspective.
Vet J
170
163-74
2005
Equus caballus
Devaki, R; Shankar Rao, S; Nadgir, SM
The effect of lithium on the adrenoceptor-mediated second messenger system in the rat brain.
J Psychiatry Neurosci
31
246-52
2006
Rattus
Joo, JI; Oh, TS; Kim, DH; Choi, DK; Wang, X; Choi, JW; Yun, JW
Differential expression of adipose tissue proteins between obesity-susceptible and -resistant rats fed a high-fat diet.
Proteomics
11
1429-48
2011
Rattus, bat, Homo sapiens
Peng, M; Li, S; He, Q; Zhao, J; Li, L; Ma, H
Proteomics reveals changes in hepatic proteins during chicken embryonic development: an alternative model to study human obesity.
BMC Genomics
19
29
2018
Gallus gallus
Gillardin, V; Silvestre, F; Dieu, M; Delaive, E; Raes, M; Thomé, JP; Kestemont, P
Protein expression profiling in the African clawed frog Xenopus laevis tadpoles exposed to the polychlorinated biphenyl mixture aroclor 1254.
Mol Cell Proteomics
8
596-611
2009
amphibia
Bai, H; Zhu, J; Sun, Y; Liu, R; Liu, N; Li, D; Wen, J; Chen, J
Identification of genes related to beak deformity of chickens using digital gene expression profiling.
PLoS One
9
e107050
2014
Gallus gallus
Lee, P; Kuhl, W; Gelbart, T; Kamimura, T; West, C; Beutler, E
Homology between a human protein and a protein of the green garden pea.
Genomics
21
371-8
1994
Pisum sativum, Homo sapiens, Saccharomyces cerevisiae
Yasuoka, A; Abe, K; Arai, S; Emori, Y
Molecular cloning and functional expression of the alpha1A-adrenoceptor of Medaka fish, Oryzias latipes.
Eur J Biochem
235
501-7
1996
Chondrichthyes, Oryzias latipes
Wilborn, TW; Sun, D; Schafer, JA
Expression of multiple alpha-adrenoceptor isoforms in rat CCD.
Am J Physiol
275
F111-8
1998
Rattus
Fabbri, E; Buzzi, M; Biondi, C; Capuzzo, A
Alpha-adrenoceptor-mediated glucose release from perifused catfish hepatocytes.
Life Sci
65
27-35
1999
Chondrichthyes
Yan, M; Sun, J; Bird, PI; Liu, DL; Grigg, M; Lim, YL
Alpha1A- and alpha1B-adrenoceptors are the major subtypes in human saphenous vein.
Life Sci
68
1191-8
2001
Homo sapiens
Faber, JE; Yang, N; Xin, X
Expression of alpha-adrenoceptor subtypes by smooth muscle cells and adventitial fibroblasts in rat aorta and in cell culture.
J Pharmacol Exp Ther
298
441-52
2001
Rattus
Re, G; Badino, P; Odore, R; Zizzadoro, C; Ormas, P; Girardi, C; Belloli, C
Identification of functional alpha-adrenoceptor subtypes in the bovine female genital tract during different phases of the oestrous cycle.
Vet Res Commun
26
479-94
2002
Bos taurus
Tabbi-Anneni, I; Helies-Toussaint, C; Morin, D; Bescond-Jacquet, A; Lucien, A; Grynberg, A
Prevention of heart failure in rats by trimetazidine treatment: a consequence of accelerated phospholipid turnover?
J Pharmacol Exp Ther
304
1003-9
2003
Rattus
Zou, Z; Shi, XY; Lv, Y; Xu, ZD; Shi, D; Wang, L; Liu, G
[Role of alpha-adrenergic receptors in vascular hyperreactivity in rats with high level spinal injury.]
Zhongguo Wei Zhong Bing Ji Jiu Yi Xue
18
176-9
2006
Rattus
Sumathi, JC; Raghukumar, S; Kasbekar, DP; Raghukumar, C
Molecular evidence of fungal signatures in the marine protist Corallochytrium limacisporum and its implications in the evolution of animals and fungi.
Protist
157
363-76
2006
Corallochytrium, Corallochytrium limacisporum, Fungi, Metazoa, Opisthokonta
Bhave, SV; Hoffman, PL; Lassen, N; Vasiliou, V; Saba, L; Deitrich, RA; Tabakoff, B
Gene array profiles of alcohol and aldehyde metabolizing enzymes in brains of C57BL/6 and DBA/2 mice.
Alcohol Clin Exp Res
30
1659-69
2006
Mus sp.
Pérez-Rivera, AA; Hlavacova, A; Rosario-Colón, LA; Fink, GD; Galligan, JJ
Differential contributions of alpha-1 and alpha-2 adrenoceptors to vasoconstriction in mesenteric arteries and veins of normal and hypertensive mice.
Vascul Pharmacol
46
373-82
2007
Mus musculus
Tsujimura, A; Takao, T; Uchida, K; Yamamoto, K; Fukuhara, S; Nakayama, J; Ueda, T; Hirai, T; Kiuchi, H; Miyagawa, Y; Takahashi, T; Kojimaan, Y; Okuyama, A
[Clinical efficacy of tolterodine for patients with overactive bladder after insufficient efficacy by monotherapy with alpha1-adrenoceptor antagonist]
Nippon Hinyokika Gakkai Zasshi
100
686-92
2009
Homo sapiens
Nam, SH; Kwon, MJ; Lee, J; Lee, CG; Yu, HJ; Ki, CS; Lee, M
Clinical and genetic analysis of three korean children with pyridoxine-dependent epilepsy.
Ann Clin Lab Sci
42
65-72
2012
Homo sapiens
Mills, PB; Footitt, EJ; Ceyhan, S; Waters, PJ; Jakobs, C; Clayton, PT; Struys, EA
Urinary AASA excretion is elevated in patients with molybdenum cofactor deficiency and isolated sulphite oxidase deficiency.
J Inherit Metab Dis
2012
Homo sapiens
Xue, J; Qian, P; Li, H; Wu, Y; Liu, X; Yang, Z
A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.
Epilepsy Res
118
1-4
2015
Homo sapiens
Gül-Mert, G; ?ncecik, F; Hergüner, MÖ; Ceylaner, S; Altunba?ak, ?
Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature.
Turk J Pediatr
57
394-397
0
Homo sapiens
Ben Younes, T; Kraoua, I; Benrhouma, H; Nasrallah, F; Ben Achour, N; Klaa, H; Hassen-Rouissi, A; Drissi, C; Benoist, JF; Ben Youssef-Turki, I
Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child.
Arch Pediatr
24
241-243
2017
Homo sapiens
Struebing, FL; King, R; Li, Y; Cooke Bailey, JN; , ; Wiggs, JL; Geisert, EE
Genomic loci modulating retinal ganglion cell death following elevated IOP in the mouse.
Exp Eye Res
169
61-67
2018
Mus musculus
Guo, K; Lin, X; Li, Y; Qian, W; Zou, Z; Chen, H; Zhou, H; Jin, M
Proteomic analysis of chicken embryo fibroblast cells infected with recombinant H5N1 avian influenza viruses with and without NS1 eIF4GI binding domain.
Oncotarget
9
8350-8367
2018
Gallus gallus
Pommergaard, HC; Preuss Hasselby, J; Linno Willemoe, G; Ralbovska, A; Arendtsen Rostved, A; Rasmussen, A; Aagaard Schultz, N; Hillingsø, J; Nørgaard Larsen, P; Kugler, JM
Peroxisome proliferator-activated receptor activity correlates with poor survival in patients resected for hepatocellular carcinoma.
J Hepatobiliary Pancreat Sci
2020
Homo sapiens
Akiyama, T; Hyodo, Y; Hasegawa, K; Oboshi, T; Imai, K; Ishihara, N; Dowa, Y; Koike, T; Yamamoto, T; Shibasaki, J; Shimbo, H; Fukuyama, T; Takano, K; Shiraku, H; Takeshita, S; Okanishi, T; Baba, S; Kubota, M; Hamano, SI; Kobayashi, K
Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-Phosphate.
Pediatr Neurol
113
33-41
2020
Homo sapiens
van den Hoogen, C; van der Horst, G; Cheung, H; Buijs, JT; Pelger, RC; van der Pluijm, G
The aldehyde dehydrogenase enzyme 7A1 is functionally involved in prostate cancer bone metastasis.
Clin Exp Metastasis
2011
Homo sapiens
Andrejeva, D; Kugler, JM; Nguyen, HT; Malmendal, A; Holm, ML; Toft, BG; Loya, AC; Cohen, SM
Metabolic control of PPAR activity by aldehyde dehydrogenase regulates invasive cell behavior and predicts survival in hepatocellular and renal clear cell carcinoma.
BMC Cancer
18
1180
2018
Homo sapiens, Drosophila
Laciak, AR; Korasick, DA; Wyatt, JW; Gates, KS; Tanner, JJ
Structural and biochemical consequences of pyridoxine-dependent epilepsy mutations that target the aldehyde binding site of aldehyde dehydrogenase ALDH7A1.
FEBS J
2019
Homo sapiens
Tang, WK; Cheng, CH; Fong, WP
First purification of the antiquitin protein and demonstration of its enzymatic activity.
FEBS Lett
516
183-6
2002
Homo sapiens, Spondyliosoma cantharus
Mills, PB; Struys, E; Jakobs, C; Plecko, B; Baxter, P; Baumgartner, M; Willemsen, MA; Omran, H; Tacke, U; Uhlenberg, B; Weschke, B; Clayton, PT
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Nat Med
12
307-9
2006
Homo sapiens
Kanno, J; Kure, S; Narisawa, A; Kamada, F; Takayanagi, M; Yamamoto, K; Hoshino, H; Goto, T; Takahashi, T; Haginoya, K; Tsuchiya, S; Baumeister, FA; Hasegawa, Y; Aoki, Y; Yamaguchi, S; Matsubara, Y
Allelic and non-allelic heterogeneities in pyridoxine dependent seizures revealed by ALDH7A1 mutational analysis.
Mol Genet Metab
91
384-9
2007
Homo sapiens
Striano, P; Battaglia, S; Giordano, L; Capovilla, G; Beccaria, F; Struys, EA; Salomons, GS; Jakobs, C
Two novel ALDH7A1 (antiquitin) splicing mutations associated with pyridoxine-dependent seizures.
Epilepsia
2008
Homo sapiens
Wong, JW; Chan, CL; Tang, WK; Cheng, CH; Fong, WP
Is antiquitin a mitochondrial Enzyme?
J Cell Biochem
109
74-81
2010
Homo sapiens
Brocker, C; Cantore, M; Failli, P; Vasiliou, V
Aldehyde dehydrogenase 7A1 (ALDH7A1) attenuates reactive aldehyde and oxidative stress induced cytotoxicity.
Chem Biol Interact
2011
Homo sapiens, Cricetulus griseus, plant
Yeghiazaryan, NS; Striano, P; Spaccini, L; Pezzella, M; Cassandrini, D; Zara, F; Mastrangelo, M
Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation.
Eur J Paediatr Neurol
2011
Homo sapiens
Struys, EA; Bok, LA; Emal, D; Houterman, S; Willemsen, MA; Jakobs, C
The measurement of urinary ?(1)-piperideine-6-carboxylate, the alter ego of ?-aminoadipic semialdehyde, in Antiquitin deficiency.
J Inherit Metab Dis
2012
Homo sapiens
Tlili, A; Hamida Hentati, N; Chaabane, R; Gargouri, A; Fakhfakh, F
Pyridoxine-dependent epilepsy in Tunisia is caused by a founder missense mutation of the ALDH7A1 gene.
Gene
518
242-5
2013
Homo sapiens
Jagadeesh, S; Suresh, B; Murugan, V; Suresh, S; Salomans, GS; Struys, EA; Jacobs, C
Pyridoxine-dependent epilepsy owing to antiquitin deficiency--mutation in the ALDH7A1 gene.
Paediatr Int Child Health
33
113-5
2013
Homo sapiens
Jansen, LA; Hevner, RF; Roden, WH; Hahn, SH; Jung, S; Gospe, SM
Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.
Ann Neurol
75
22-32
2014
Homo sapiens, Mus musculus
Mefford, HC; Zemel, M; Geraghty, E; Cook, J; Clayton, PT; Paul, K; Plecko, B; Mills, PB; Nordli, DR; Gospe, SM
Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
Neurology
85
756-62
2015
Homo sapiens
Coci, EG; Codutti, L; Fink, C; Bartsch, S; Grüning, G; Lücke, T; Kurth, I; Riedel, J
Novel homozygous missense mutation in ALDH7A1 causes neonatal pyridoxine dependent epilepsy.
Mol Cell Probes
32
18-23
2017
Homo sapiens
Haidar, Z; Jalkh, N; Corbani, S; Fawaz, A; Chouery, E; Mégarbané, A
Atypical pyridoxine dependent epilepsy resulting from a new homozygous missense mutation, in ALDH7A1.
Seizure
57
32-33
2018
Homo sapiens
Toldo, I; Bonardi, CM; Bettella, E; Polli, R; Talenti, G; Burlina, A; Sartori, S; Murgia, A
Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.
Eur J Paediatr Neurol
2018
Homo sapiens
Koul, R; Alfutaisi, A; Abdelrahim, R; Altihilli, K
Pyridoxine Responsive Seizures: Beyond Aldehyde Dehydrogenase 7A1.
J Neurosci Rural Pract
10
613-616
2019
Homo sapiens
Jiao, X; Gong, P; Wu, Y; Zhang, Y; Yang, Z
Analysis of the Phenotypic Variability as Well as Impact of Early Diagnosis and Treatment in Six Affected Families With ALDH7A1 Deficiency.
Front Genet
12
644447
2021
Homo sapiens
Schmitt, B; Baumgartner, M; Mills, PB; Clayton, PT; Jakobs, C; Keller, E; Wohlrab, G
Seizures and paroxysmal events: symptoms pointing to the diagnosis of pyridoxine-dependent epilepsy and pyridoxine phosphate oxidase deficiency.
Dev Med Child Neurol
2010
Homo sapiens
Lei, L; Vaghy, PL; Slavica, M; De Los Angeles, J; Smith, B; Miller, DD; Feller, DR
Activation of L-type calcium channel by tolazoline derivatives: role of isothiocyanate moiety.
J Cardiovasc Pharmacol
31
721-33
1998
Rattus
Tang, X; Xia, YY; Tang, JY; Dai, H; Liu, XC; Cheng, SQ; Meng, P; Zhang, RY
[Effects of maternal exposure to vehicle exhaust on the reproductive system and DNA methylation in male offspring mice].
Nan Fang Yi Ke Da Xue Xue Bao
36
1181-1185
2016
Mus sp.
Mercimek-Mahmutoglu, S; Patel, J; Cordeiro, D; Hewson, S; Callen, D; Donner, EJ; Hahn, CD; Kannu, P; Kobayashi, J; Minassian, BA; Moharir, M; Siriwardena, K; Weiss, SK; Weksberg, R; Snead, OC
Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Epilepsia
56
707-16
2015
Homo sapiens
Ping, P; Faber, JE
Characterization of alpha-adrenoceptor gene expression in arterial and venous smooth muscle.
Am J Physiol
265
H1501-9
1993
Rattus
Andersson, K
alpha1-adrenoceptors and bladder function.
Eur Urol
36 Suppl 1
96-102
1999
Homo sapiens
Lubahn, CL; Schaller, JA; Bellinger, DL; Sweeney, S; Lorton, D
The importance of timing of adrenergic drug delivery in relation to the induction and onset of adjuvant-induced arthritis.
Brain Behav Immun
18
563-71
2004
Rattus, animal
Matsunaga, T; Yasuda, K; Adachi, T; Gu, N; Yamamura, T; Moritani, T; Tsujimoto, G; Tsuda, K
Alpha-adrenoceptor gene variants and autonomic nervous system function in a young healthy Japanese population.
J Hum Genet
52
28-37
2007
Homo sapiens
Gallagher, RC; Van Hove, JL; Scharer, G; Hyland, K; Plecko, B; Waters, PJ; Mercimek-Mahmutoglu, S; Stockler-Ipsiroglu, S; Salomons, GS; Rosenberg, EH; Struys, EA; Jakobs, C
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
Ann Neurol
2009
Homo sapiens
Kluger, G; Blank, R; Paul, K; Paschke, E; Jansen, E; Jakobs, C; Wörle, H; Plecko, B
Pyridoxine-dependent epilepsy: normal outcome in a patient with late diagnosis after prolonged status epilepticus causing cortical blindness.
Neuropediatrics
39
276-9
2008
Homo sapiens
Gospe, SM
Neonatal vitamin-responsive epileptic encephalopathies.
Chang Gung Med J
33
1-12
0
Homo sapiens
Mills, PB; Footitt, EJ; Mills, KA; Tuschl, K; Aylett, S; Varadkar, S; Hemingway, C; Marlow, N; Rennie, J; Baxter, P; Dulac, O; Nabbout, R; Craigen, WJ; Schmitt, B; Feillet, F; Christensen, E; De Lonlay, P; Pike, MG; Hughes, MI; Struys, EA; Jakobs, C; Zuberi, SM; Clayton, PT
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).
Brain
133
2148-59
2010
Homo sapiens
Rose, AE; Poliseno, L; Wang, J; Clark, M; Pearlman, A; Wang, G; Vega Y Saenz de Miera, EC; Medicherla, R; Christos, PJ; Shapiro, R; Pavlick, A; Darvishian, F; Zavadil, J; Polsky, D; Hernando, E; Ostrer, H; Osman, I
Integrative Genomics Identifies Molecular Alterations that Challenge the Linear Model of Melanoma Progression.
Cancer Res
71
2561-71
2011
Homo sapiens
Yeghiazaryan, NS; Zara, F; Capovilla, G; Brigati, G; Falsaperla, R; Striano, P
Pyridoxine-dependent epilepsy: An under-recognised cause of intractable seizures.
J Paediatr Child Health
2010
Homo sapiens
van Karnebeek, CD; Hartmann, H; Jaggumantri, S; Bok, LA; Cheng, B; Connolly, M; Coughlin, CR; Das, AM; Gospe, SM; Jakobs, C; van der Lee, JH; Mercimek-Mahmutoglu, S; Meyer, U; Struys, E; Sinclair, G; Van Hove, J; Collet, JP; Plecko, BR; Stockler, S
Lysine restricted diet for pyridoxine-dependent epilepsy: first evidence and future trials.
Mol Genet Metab
107
335-44
2012
Homo sapiens
Struys, EA; Nota, B; Bakkali, A; Al Shahwan, S; Salomons, GS; Tabarki, B
Pyridoxine-dependent epilepsy with elevated urinary ?-amino adipic semialdehyde in molybdenum cofactor deficiency.
Pediatrics
130
e1716-9
2012
Homo sapiens
Mefford, HC; Cook, J; Gospe, SM
Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.
Am J Med Genet A
158A
3190-5
2012
Homo sapiens
Pérez, B; Gutiérrez-Solana, LG; Verdú, A; Merinero, B; Yuste-Checa, P; Ruiz-Sala, P; Calvo, R; Jalan, A; Marín, LL; Campos, O; Ruiz, MÁ; San Miguel, M; Vázquez, M; Castro, M; Ferrer, I; Navarrete, R; Desviat, LR; Lapunzina, P; Ugarte, M; Pérez-Cerdá, C
Clinical, biochemical, and molecular studies in pyridoxine-dependent epilepsy. Antisense therapy as possible new therapeutic option.
Epilepsia
54
239-48
2013
Homo sapiens
Plecko, B; Paul, K; Mills, P; Clayton, P; Paschke, E; Maier, O; Hasselmann, O; Schmiedel, G; Kanz, S; Connolly, M; Wolf, N; Struys, E; Stockler, S; Abela, L; Hofer, D
Pyridoxine responsiveness in novel mutations of the PNPO gene.
Neurology
2014
Homo sapiens
van Karnebeek, CD; Stockler-Ipsiroglu, S; Jaggumantri, S; Assmann, B; Baxter, P; Buhas, D; Bok, LA; Cheng, B; Coughlin, CR; Das, AM; Giezen, A; Al-Hertani, W; Ho, G; Meyer, U; Mills, P; Plecko, B; Struys, E; Ueda, K; Albersen, M; Verhoeven, N; Gospe, SM; Gallagher, RC; Van Hove, JK; Hartmann, H
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
JIMD Rep
2014
Homo sapiens
Friedman, SD; Ishak, GE; Poliachik, SL; Poliakov, AV; Otto, RK; Shaw, DW; Willemsen, MA; Bok, LA; Gospe, SM
Callosal alterations in pyridoxine-dependent epilepsy.
Dev Med Child Neurol
2014
Homo sapiens
Xue, J; Yang, ZX; Wu, Y; Xiong, H; Zhang, YH; Liu, XY
[Clinical characteristics and prognosis analysis of vitamin B6 responsive infantile spasms].
Zhonghua Er Ke Za Zhi
54
141-4
2016
Homo sapiens
van Karnebeek, CD; Tiebout, SA; Niermeijer, J; Poll-The, BT; Ghani, A; Coughlin, CR; Van Hove, JL; Richter, JW; Christen, HJ; Gallagher, R; Hartmann, H; Stockler-Ipsiroglu, S
Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
Pediatr Neurol
59
6-12
2016
Homo sapiens
Xue, J; Yang, ZX; Li, H; Qian, P; Wu, Y; Jiang, YW; Liu, XY
[Clinical and genetic characteristics and detection of urinary pipecolic acid in pyridoxine dependent epilepsy].
Zhonghua Er Ke Za Zhi
54
592-6
2016
Homo sapiens
Al Teneiji, A; Bruun, TU; Cordeiro, D; Patel, J; Inbar-Feigenberg, M; Weiss, S; Struys, E; Mercimek-Mahmutoglu, S
Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.
Metab Brain Dis
32
443-451
2017
Homo sapiens
Plecko, B; Zweier, M; Begemann, A; Mathis, D; Schmitt, B; Striano, P; Baethmann, M; Vari, MS; Beccaria, F; Zara, F; Crowther, LM; Joset, P; Sticht, H; Papuc, SM; Rauch, A
Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.
J Med Genet
2017
Homo sapiens
Navarro-Abia, V; Soriano-Ramos, M; Núñez-Enamorado, N; Camacho-Salas, A; Martinez-de Aragón, A; Martín-Hernández, E; Simón-de Las Heras, R
Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review.
Brain Dev
40
348-352
2018
Homo sapiens
de Rooy, RLP; Halbertsma, FJ; Struijs, EA; van Spronsen, FJ; Lunsing, RJ; Schippers, HM; van Hasselt, PM; Plecko, B; Wohlrab, G; Whalen, S; Benoist, JF; Valence, S; Mills, PB; Bok, LA
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?
Eur J Paediatr Neurol
22
662-666
2018
Homo sapiens
Oesch, G; Maga, AM; Friedman, SD; Poliachik, SL; Budech, CB; Wright, JN; Bok, LA; Gospe, SM
Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy.
Neurology
91
e78-e86
2018
Homo sapiens
Mastrangelo, M; Cesario, S
Update on the treatment of vitamin B6 dependent epilepsies.
Expert Rev Neurother
1-13
2019
Homo sapiens
Kuhara, T; Akiyama, T; Ohse, M; Koike, T; Shibasaki, J; Imai, K; Cooper, AL
Identification of new biomarkers of pyridoxine-dependent epilepsy by GC/MS-based urine metabolomics.
Anal Biochem
604
113739
2020
Homo sapiens
Mitta, N; Menon, RN; McTague, A; Radhakrishnan, A; Sundaram, S; Cherian, A; Madhavilatha, GK; Mannan, AU; Nampoothiri, S; Thomas, SV
Genotype-phenotype correlates of infantile-onset developmental & epileptic encephalopathy syndromes in South India: A single centre experience.
Epilepsy Res
166
106398
2020
Homo sapiens
Bouchereau, J; Schiff, M
Inherited Disorders of Lysine Metabolism: A Review.
J Nutr
150
2556S-2560S
2020
Homo sapiens
Minenkova, A; Jansen, EEW; Cameron, J; Barto, R; Hurd, T; MacNeil, L; Salomons, GS; Mercimek-Andrews, S
Is impaired energy production a novel insight into the pathogenesis of pyridoxine-dependent epilepsy due to biallelic variants in ALDH7A1?
PLoS One
16
e0257073
2021
Danio rerio, Homo sapiens, Electron
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