Aldehyde dehydrogenase 5 family, member A1
Succinate-semialdehyde dehydrogenase, mitochondrial jẹ́ enzyme nínú ara àwọn ènìyàn tí ALDH5A1 gene máa ń kóòdù fún.[1][2][3]
Iṣẹ́ rẹ̀
àtúnṣeProtein yìí wà ní ẹbí aldehyde dehydrogenase ti àwọn protein. Gene yìí máa ń kóòdù fún succinic semialdehyde dehydrogenase tí ó gbójú lé NAD+ ti mitochondria. Àìpóṣùwọ̀n enzyme yìí ni wọ́n ń pè ní 4-hydroxybutyricaciduria, tí kò wọ́pọ̀ nínú ìbíní tí kò ṣe rẹ́gí níbi ètò neurotransmitter tí à ń pè ní γ-aminobutyric acid (GABA). Lati ṣàtúnṣe àìṣe dédé yìí, omi ara ẹni tí ó ní ààrùn yìí máa ń kó GHB mọ́ra. Irú rè. méjì ọ̀tọ̀ọ̀tọ̀ ni a dámọ̀ fún gene yìí.[3]
Àwọn ìtọ́kasí
àtúnṣe- ↑ "Molecular cloning of the mature NAD(+)-dependent succinic semialdehyde dehydrogenase from rat and human. cDNA isolation, evolutionary homology, and tissue expression". The Journal of Biological Chemistry 270 (1): 461–7. Jan 1995. doi:10.1074/jbc.270.1.461. PMID 7814412.
- ↑ "Human succinic semialdehyde dehydrogenase. Molecular cloning and chromosomal localization". Advances in Experimental Medicine and Biology 414: 253–60. May 1997. doi:10.1007/978-1-4615-5871-2_29. PMID 9059628.
- ↑ 3.0 3.1 "Entrez Gene: ALDH5A1 aldehyde dehydrogenase 5 family, member A1 (succinate-semialdehyde dehydrogenase)".
Ìwé àkàsíwájú
àtúnṣe- "Interactions between 4-aminobutyrate aminotransferase and succinic semialdehyde dehydrogenase, two mitochondrial enzymes". The Journal of Biological Chemistry 259 (18): 11459–63. Sep 1984. PMID 6470007.
- "Two exon-skipping mutations as the molecular basis of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)". American Journal of Human Genetics 63 (2): 399–408. Aug 1998. doi:10.1086/301964. PMC 1377305. PMID 9683595. //www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pmcentrez&artid=1377305.
- "Prenatal diagnosis of succinic semialdehyde dehydrogenase deficiency: increased accuracy employing DNA, enzyme, and metabolite analyses". Molecular Genetics and Metabolism 72 (3): 218–22. Mar 2001. doi:10.1006/mgme.2000.3145. PMID 11243727.
- "Mutation analysis in a patient with succinic semialdehyde dehydrogenase deficiency: a compound heterozygote with 103-121del and 1460T > A of the ALDH5A1 gene". Human Heredity 53 (1): 42–4. 2002. doi:10.1159/000048603. PMID 11901270.
- "Structure of human succinic semialdehyde dehydrogenase gene: identification of promoter region and alternatively processed isoforms". Molecular Genetics and Metabolism 76 (4): 348–62. Aug 2002. doi:10.1016/S1096-7192(02)00105-1. PMID 12208142.
- "[Morphological and functional characteristics of lymphocytes of mothers of children with Down syndrome]". Morfologii͡A 118 (4): 74–80. 2003. PMID 12629812.
- "Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency". Human Mutation 22 (6): 442–50. Dec 2003. doi:10.1002/humu.10288. PMID 14635103.
- "A functional polymorphism in the succinate-semialdehyde dehydrogenase (aldehyde dehydrogenase 5 family, member A1) gene is associated with cognitive ability". Molecular Psychiatry 9 (6): 582–6. Jun 2004. doi:10.1038/sj.mp.4001441. PMID 14981524.
- "High-level expression and characterization of the recombinant enzyme, and tissue distribution of human succinic semialdehyde dehydrogenase". Protein Expression and Purification 44 (1): 16–22. Nov 2005. doi:10.1016/j.pep.2005.03.019. PMID 16199352.
- "SSADH variation in primates: intra- and interspecific data on a gene with a potential role in human cognitive functions". Journal of Molecular Evolution 63 (1): 54–68. Jul 2006. doi:10.1007/s00239-005-0154-8. PMID 16786440.
- "Therapeutic concepts in succinate semialdehyde dehydrogenase (SSADH; ALDH5a1) deficiency (gamma-hydroxybutyric aciduria). Hypotheses evolved from 25 years of patient evaluation, studies in Aldh5a1-/- mice and characterization of gamma-hydroxybutyric acid pharmacology". Journal of Inherited Metabolic Disease 30 (3): 279–94. Jun 2007. doi:10.1007/s10545-007-0574-2. PMID 17457693.