| The impact of ALDH7A1 variants in oral cancer development and prognosis. | The impact of ALDH7A1 variants in oral cancer development and prognosis.
Lu HJ, Chuang CY, Chen MK, Su CW, Yang WE, Yeh CM, Lai KM, Tang CH, Lin CW, Yang SF., Free PMC Article | 06/18/2022 |
| EPS8 supports pancreatic cancer growth by inhibiting BMI1 mediated proteasomal degradation of ALDH7A1. | EPS8 supports pancreatic cancer growth by inhibiting BMI1 mediated proteasomal degradation of ALDH7A1.
Tan M, Meng J, Sun X, Fu X, Wang R. | 11/13/2021 |
| 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. | 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.
Boehm T, Hubmann H, Petroczi K, Mathis D, Klavins K, Fauler G, Plecko B, Struys E, Jilma B., Free PMC Article | 08/28/2021 |
| Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy. | Structural analysis of pathogenic mutations targeting Glu427 of ALDH7A1, the hot spot residue of pyridoxine-dependent epilepsy.
Laciak AR, Korasick DA, Gates KS, Tanner JJ., Free PMC Article | 08/28/2021 |
| Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function. | Impact of missense mutations in the ALDH7A1 gene on enzyme structure and catalytic function.
Korasick DA, Tanner JJ., Free PMC Article | 08/21/2021 |
| The study provides first evidence that the saccharopine pathway is the major route of lysine degradation in cultured human brain cells. These results support inhibition of the saccharopine pathway as a new treatment option for antiquitin deficiency. | New insights into human lysine degradation pathways with relevance to pyridoxine-dependent epilepsy due to antiquitin deficiency.
Crowther LM, Mathis D, Poms M, Plecko B. | 08/1/2020 |
| This report provides a comprehensive overview of known ALDH7A1 mutations that cause pyridoxine dependent epilepsy (PDE), and suggests that PDE may be more common than initially estimated. [review] | The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK., Free PMC Article | 06/20/2020 |
| Data show that NADH generated by aldehyde dehydrogenase 7 family, member A1 protein (ALDH7A1) targets brefeldin-A ADP-ribosylated substrate (BARS; CTBP1) to inhibit Coat Protein I (COPI) vesicle fission. | ALDH7A1 inhibits the intracellular transport pathways during hypoxia and starvation to promote cellular energy homeostasis.
Yang JS, Hsu JW, Park SY, Lee SY, Li J, Bai M, Alves C, Tseng W, Michelet X, Ho IC, Hsu VW., Free PMC Article | 01/4/2020 |
| Results suggest the NAD+ cofactor of aldehyde dehydrogenase 7 family member A1 protein (ALDH7A1) dramatically enhances tetramerization of the enzyme. | NAD(+) promotes assembly of the active tetramer of aldehyde dehydrogenase 7A1.
Korasick DA, White TA, Chakravarthy S, Tanner JJ., Free PMC Article | 06/29/2019 |
| Low ALDH7A1 protein levels correlated with poor clinical outcome. | Metabolic control of PPAR activity by aldehyde dehydrogenase regulates invasive cell behavior and predicts survival in hepatocellular and renal clear cell carcinoma.
Andrejeva D, Kugler JM, Nguyen HT, Malmendal A, Holm ML, Toft BG, Loya AC, Cohen SM., Free PMC Article | 03/23/2019 |
| We describe the case of two siblings, children of consanguineous parents, who carried a novel homozygous missense mutation of the ALDH7A1gene | Brain malformations associated to Aldh7a1 gene mutations: Report of a novel homozygous mutation and literature review.
Toldo I, Bonardi CM, Bettella E, Polli R, Talenti G, Burlina A, Sartori S, Murgia A. | 02/16/2019 |
| By using mass spectrometry techniques, we further explored the metabolic effect of aldh7a1 knockout. Impaired lysine degradation with accumulation of PDE biomarkers, B6 deficiency, and low gamma-aminobutyric acid levels were observed in the aldh7a1(-/-) larvae, which may play a significant role in the seizure phenotype and PDE pathogenesis. | Pyridoxine-Dependent Epilepsy in Zebrafish Caused by Aldh7a1 Deficiency.
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., Free PMC Article | 07/21/2018 |
| Mutations in the ALDH7A1 gene encoding alpha-amino-adipic semialdehyde (alpha-AASA) dehydrogenase (antiquitin) have been identified as the cause of PDE. We report on a novel ALDH7A1 mutation in a Tunisian child with PDE. | Pyridoxine-dependent epilepsy: A novel mutation in a Tunisian child.
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. | 02/17/2018 |
| Wild-type ALDH7A1 is shown to exist in a dimer-tetramer equilibrium with a dissociation constant of 16 muM. In contrast to the wild-type enzyme, the variants reside in monomer-dimer equilibria and are apparently incapable of forming a tetrameric species, even at high enzyme concentration. | Impact of disease-Linked mutations targeting the oligomerization interfaces of aldehyde dehydrogenase 7A1.
Korasick DA, Tanner JJ, Henzl MT., Free PMC Article | 12/2/2017 |
| results suggest that the C-terminus of ALDH7A1 is crucial for the maintenance of both the oligomeric state and the catalytic activity. | Importance of the C-Terminus of Aldehyde Dehydrogenase 7A1 for Oligomerization and Catalytic Activity.
Korasick DA, Wyatt JW, Luo M, Laciak AR, Ruddraraju K, Gates KS, Henzl MT, Tanner JJ., Free PMC Article | 11/18/2017 |
| We present the clinical and molecular genetic findings of two patients with c.1597_1597delG mutations in ALDH7A1 gene. | Pyridoxine-dependent epilepsy in two Turkish patients in Turkey and review of the literature.
Gül-Mert G, İncecik F, Hergüner MÖ, Ceylaner S, Altunbaşak Ş. | 02/18/2017 |
| Direct sequencing of the ALDH7A1 gene revealed one novel (c.297delG, p.Trp99*) and two already reported (c.328C>T, p.Arg110*; c.584A>G, p.Asn195Ser) mutations | First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
Tincheva S, Todorov T, Todorova A, Georgieva R, Stamatov D, Yordanova I, Kadiyska T, Georgieva B, Bojidarova M, Tacheva G, Litvinenko I, Mitev V. | 10/1/2016 |
| This study found five novel mutations of ALDH7A1 gene in pyridoxin dependent epilepsy. | A cohort study of pyridoxine-dependent epilepsy and high prevalence of splice site IVS11+1G>A mutation in Chinese patients.
Xue J, Qian P, Li H, Wu Y, Liu X, Yang Z. | 09/24/2016 |
| Binding to ALDH7A1 is associated with movement of the C-terminus into the active site which stabilizes the substrate anchor loop. | Structural Basis of Substrate Recognition by Aldehyde Dehydrogenase 7A1.
Luo M, Tanner JJ., Free PMC Article | 11/28/2015 |
| Using a custom array, study identified heterozygous intragenic deletions in the ALDH7A1 gene in 5 of 6 patients with pyridoxine-dependent epilepsy and positive biomarkers who had only a single mutation identified by conventional sequence analysis | Intragenic deletions of ALDH7A1 in pyridoxine-dependent epilepsy caused by Alu-Alu recombination.
Mefford HC, Zemel M, Geraghty E, Cook J, Clayton PT, Paul K, Plecko B, Mills PB, Nordli DR Jr, Gospe SM Jr., Free PMC Article | 11/14/2015 |
| our study indicated that the ALDH7A1 rs13182402 polymorphism was associated with risk of ESCC in Chinese populations. | The ALDH7A1 genetic polymorphisms contribute to development of esophageal squamous cell carcinoma.
Wang H, Tong L, Wei J, Pan W, Li L, Ge Y, Zhou L, Yuan Q, Zhou C, Yang M. | 03/21/2015 |
| Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants | Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants.
Yang Z, Yang X, Wu Y, Wang J, Zhang Y, Xiong H, Jiang Y, Qin J., Free PMC Article | 11/22/2014 |
| Antiquitin is expressed within glial cells in the brain and its dysfunction in pyridoxine-dependent epilepsy is associated with neuronal migration abnormalities. | Glial localization of antiquitin: implications for pyridoxine-dependent epilepsy.
Jansen LA, Hevner RF, Roden WH, Hahn SH, Jung S, Gospe SM Jr., Free PMC Article | 04/12/2014 |
| Pyridoxine dependent epilepsy (PDE) is caused by mutations in the ALDH7A1 gene (PDE-ALDH7A1) encoding alpha-aminoadipic semialdehyde dehydrogenase (alpha-AASAD) enzyme in the lysine catabolic pathway | Normal plasma pipecolic acid level in pyridoxine dependent epilepsy due to ALDH7A1 mutations.
Mercimek-Mahmutoglu S, Donner EJ, Siriwardena K. | 03/22/2014 |
| For patients with NSCLC, low ALDH7A1 expression was associated with a decreased incidence of cancer recurrence. | ALDH7A1 expression is associated with recurrence in patients with surgically resected non-small-cell lung carcinoma.
Giacalone NJ, Den RB, Eisenberg R, Chen H, Olson SJ, Massion PP, Carbone DP, Lu B., Free PMC Article | 11/2/2013 |