Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 4
2017 5
2018 3
2019 4
2020 14
2021 3
2022 4
2023 1
2024 1

Text availability

Article attribute

Article type

Publication date

Search Results

36 results

Results by year

Filters applied: . Clear all
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 …
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. ...Experimental evidences proved that hsa-miR-1301-3p suppressed the expression of ADH6, ALDH5A1, and ALDH8A1 in liver cells …
We found that hsa-miR-1301-3p suppressed the expression of ADH6, ALDH5A1, and ALDH8A1 in liver cells and blocked their induction by e …
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). ...The main aim of this review is to discuss the potential of further therapy approaches that h …
Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is a genetic disorder that results from the aberrant metabolism of the neuro …
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 …
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. ...We found ch …
BACKGROUND: Succinic semialdehyde dehydrogenase deficiency (SSADH-D) is an autosomal recessive gamma-aminobutyric acid (GABA) metabol …
Decreased expression of ALDH5A1 predicts prognosis in patients with ovarian cancer.
Tian X, Han Y, Yu L, Luo B, Hu Z, Li X, Yang Z, Wang X, Huang W, Wang H, Zhang Q, Ma D. Tian X, et al. Cancer Biol Ther. 2017 Apr 3;18(4):245-251. doi: 10.1080/15384047.2017.1295175. Epub 2017 Mar 27. Cancer Biol Ther. 2017. PMID: 28346042 Free PMC article.
However, the prognostic value of ALDH5A1 in ovarian cancer remains unclear. The aim of this study was to explore the relationship between ALDH5A1 and the prognosis of patients with ovarian cancer (OC). We compared the expression of ALDH5A1 in OC to that innor …
However, the prognostic value of ALDH5A1 in ovarian cancer remains unclear. The aim of this study was to explore the relationship bet …
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.
Tokatly Latzer I, Roullet JB, Cesaro S, DiBacco ML, Arning E, Rotenberg A, Lee HHC, Opladen T, Jeltsch K, García-Cazorla À, Juliá-Palacios N, Gibson KM, Bertoldi M, Pearl PL. Tokatly Latzer I, et al. Hum Genet. 2023 Dec;142(12):1755-1776. doi: 10.1007/s00439-023-02613-6. Epub 2023 Nov 14. Hum Genet. 2023. PMID: 37962671
To investigate the genotype-to-protein-to-phenotype correlations of succinic semialdehyde dehydrogenase deficiency (SSADHD), an inherited metabolic disorder of gamma-aminobutyric acid catabolism. Bioinformatics and in silico mutagenesis analyses of ALDH5A1 variants were pe …
To investigate the genotype-to-protein-to-phenotype correlations of succinic semialdehyde dehydrogenase deficiency (SSADHD), an inherited me …
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 …
36 results