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Year Number of Results
2018 1
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38 results

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Page 1
Genetic variations in GABA metabolism and epilepsy.
Feng Y, Wei ZH, Liu C, Li GY, Qiao XZ, Gan YJ, Zhang CC, Deng YC. Feng Y, et al. Seizure. 2022 Oct;101:22-29. doi: 10.1016/j.seizure.2022.07.007. Epub 2022 Jul 15. Seizure. 2022. PMID: 35850019 Free article. Review.
GABA is metabolized by GABA transaminase and succinate semi aldehyde dehydrogenase, which are encoded by the ABAT and ALDH5A1 genes, respectively. Mutations of these genes result in symptoms related to deficiency of GABA transaminase and succinate semi aldehyde dehydrogena …
GABA is metabolized by GABA transaminase and succinate semi aldehyde dehydrogenase, which are encoded by the ABAT and ALDH5A1 genes, …
Leigh Syndrome: A Study of 209 Patients at the Beijing Children's Hospital.
Stenton SL, Zou Y, Cheng H, Liu Z, Wang J, Shen D, Jin H, Ding C, Tang X, Sun S, Han H, Ma Y, Zhang W, Jin R, Wang H, Sun D, Lv JL, Prokisch H, Fang F. Stenton SL, et al. Ann Neurol. 2022 Apr;91(4):466-482. doi: 10.1002/ana.26313. Epub 2022 Mar 6. Ann Neurol. 2022. PMID: 35094435
Poorest survival was associated with MT-ND5, MT-ATP6 (m.8993T>C and m.9176T>C), SURF1, and ALDH5A1 ( 50% 3 year's survival), in contrast to milder defects with specific treatment (ECHS1 and SLC19A3, 100% 3 year's survival). ...
Poorest survival was associated with MT-ND5, MT-ATP6 (m.8993T>C and m.9176T>C), SURF1, and ALDH5A1 ( 50% 3 year's survival), in …
Novel ALDH5A1 variants and genotype: Phenotype correlation in SSADH deficiency.
DiBacco ML, Pop A, Salomons GS, Hanson E, Roullet JB, Gibson KM, Pearl PL. DiBacco ML, et al. Neurology. 2020 Nov 10;95(19):e2675-e2682. doi: 10.1212/WNL.0000000000010730. Epub 2020 Sep 4. Neurology. 2020. PMID: 32887777 Free PMC article.
OBJECTIVE: To determine genotype-phenotype correlation in succinic semialdehyde dehydrogenase (SSADH) deficiency. METHODS: ALDH5A1 variants were studied with phenotype correlation in the SSADH natural history study. ...CONCLUSIONS: Seven novel pathogenic and …
OBJECTIVE: To determine genotype-phenotype correlation in succinic semialdehyde dehydrogenase (SSADH) deficiency. METHODS: ALDH5A1 …
Succinic Semialdehyde Dehydrogenase Deficiency: An Update.
Didiášová M, Banning A, Brennenstuhl H, Jung-Klawitter S, Cinquemani C, Opladen T, Tikkanen R. Didiášová M, et al. Cells. 2020 Feb 19;9(2):477. doi: 10.3390/cells9020477. Cells. 2020. PMID: 32093054 Free PMC article. Review.
Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is a genetic disorder that results from the aberrant metabolism of the neurotransmitter gamma-amino butyric acid (GABA). ...In this review, we briefly summarize the molecular genetics of SSADH-D, the past and …
Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is a genetic disorder that results from the aberrant metabolism of the neuro …
Causal Relationships Between Epilepsy, Anti-Epileptic Drugs, and Serum Vitamin D and Vitamin D Binding Protein: A Bidirectional and Drug Target Mendelian Randomization Study.
Cheng Z, Zuo J, Peng X, Zhang H, Su W, Luan G, Guan Y. Cheng Z, et al. CNS Neurosci Ther. 2024 Dec;30(12):e70183. doi: 10.1111/cns.70183. CNS Neurosci Ther. 2024. PMID: 39703113 Free PMC article.
Furthermore, significant associations were observed between serum 25(OH)D levels and AED target genes SCN4A, GABBR1, CA13, ALDH5A1, and CA8. No significant associations were found between AED target genes and VDBP levels after correction. ...
Furthermore, significant associations were observed between serum 25(OH)D levels and AED target genes SCN4A, GABBR1, CA13, ALDH5A1, a …
Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.
Atasu B, Simón-Sánchez J, Hanagasi H, Bilgic B, Hauser AK, Guven G, Heutink P, Gasser T, Lohmann E. Atasu B, et al. J Med Genet. 2024 Apr 19;61(5):443-451. doi: 10.1136/jmg-2022-109099. J Med Genet. 2024. PMID: 38458754 Free PMC article.
RESULTS: We identified potentially disease-causing variants in the established dystonia genes (PRKRA, SGCE, KMT2B, SLC2A1, GCH1, THAP1, HPCA, TSPOAP1, AOPEP; n=11 families (26%)), in the uncommon forms of dystonia-associated genes (PCCB, CACNA1A, ALDH5A1, PRKN; n=4 familie …
RESULTS: We identified potentially disease-causing variants in the established dystonia genes (PRKRA, SGCE, KMT2B, SLC2A1, GCH1, THAP1, HPCA …
Human iPSC-derived neural stem cells with ALDH5A1 mutation as a model of succinic semialdehyde dehydrogenase deficiency.
Chen X, Peng M, Cai Y, Zhou C, Liu L. Chen X, et al. BMC Neurosci. 2022 Dec 16;23(1):77. doi: 10.1186/s12868-022-00755-3. BMC Neurosci. 2022. PMID: 36527006 Free PMC article.
BACKGROUND: Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is an autosomal recessive gamma-aminobutyric acid (GABA) metabolism disorder that can arise due to ALDH5A1 mutations, resulting in severe, progressive, untreatable neurodegeneration. ...CONCLUSIONS …
BACKGROUND: Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is an autosomal recessive gamma-aminobutyric acid (GABA) metabol …
MicroRNA hsa-miR-1301-3p Regulates Human ADH6, ALDH5A1 and ALDH8A1 in the Ethanol-Acetaldehyde-Acetate Metabolic Pathway.
Wang X, Zhao Y, Luo J, Xu L, Li X, Jin Y, Li C, Feng M, Wang Y, Chen J, Hou Y, Zhao Q, Zhao J, Ning B, Zheng Y, Yu D. Wang X, et al. Mol Pharmacol. 2020 Aug;98(2):120-129. doi: 10.1124/mol.120.119693. Epub 2020 Jun 4. Mol Pharmacol. 2020. PMID: 32499331
We found that hsa-miR-1301-3p suppressed the expression of ADH6, ALDH5A1, and ALDH8A1 in liver cells and blocked their induction by ethanol. In summary, our results revealed that hsa-miR-1301-3p plays an important role in ethanol metabolism by regulating ADH and ALDH gene …
We found that hsa-miR-1301-3p suppressed the expression of ADH6, ALDH5A1, and ALDH8A1 in liver cells and blocked their induction by e …
Clinical features and ALDH5A1 gene findings in 13 Chinese cases with succinic semialdehyde dehydrogenase deficiency.
Dong H, Ma X, Chen Z, Zhang H, Song J, Jin Y, Li M, Lu M, He R, Zhang Y, Yang Y. Dong H, et al. BMC Med Genomics. 2024 Jun 11;17(1):158. doi: 10.1186/s12920-024-01925-4. BMC Med Genomics. 2024. PMID: 38862963 Free PMC article.
BACKGROUND AND AIMS: To investigate the clinical features, ALDH5A1 gene variations, treatment, and prognosis of patients with succinic semialdehyde dehydrogenase (SSADH) deficiency. ...Twelve novel variants of the ALDH5A1 gene were identified....
BACKGROUND AND AIMS: To investigate the clinical features, ALDH5A1 gene variations, treatment, and prognosis of patients with succini …
ALDH5A1 acts as a tumour promoter and has a prognostic impact in papillary thyroid carcinoma.
Deng XY, Gan XX, Feng JH, Cai WS, Wang XQ, Shen L, Luo HT, Chen Z, Guo M, Cao J, Shen F, Xu B. Deng XY, et al. Cell Biochem Funct. 2021 Mar;39(2):317-325. doi: 10.1002/cbf.3584. Epub 2020 Sep 2. Cell Biochem Funct. 2021. PMID: 32881051
Results showed that the levels of ALDH5A1 were found positively correlated with tumour stage, metastasis, lymph node stage, and higher levels of ALDH5A1 demonstrated poor disease-free survival (DFS). Immunohistochemistry (IHC) revealed that significantly higher expr …
Results showed that the levels of ALDH5A1 were found positively correlated with tumour stage, metastasis, lymph node stage, and highe …
38 results