References
- Jakobs C, Bojasch M, Monch E, et al. Urinary excretion of gamma-hydroxybutyric acid in a patient with neurological abnormalities. The probability of a new inborn error of metabolism. Clin Chim Acta. 1981;111(2–3):169–178.
- Akaboshi S, Hogema BM, Novelletto A, et al. Mutational spectrum of the succinate semialdehyde dehydrogenase (ALDH5A1) gene and functional analysis of 27 novel disease-causing mutations in patients with SSADH deficiency. Hum Mutat. 2003;22(6):442–450.
- Pearl PL, Gibson KM, Acosta MT, et al. Clinical spectrum of succinic semialdehyde dehydrogenase deficiency. Neurology. 2003;60(9):1413–1417.
- Malaspina P, Picklo MJ, Jakobs C, et al. Comparative genomics of aldehyde dehydrogenase 5a1 (succinate semialdehyde dehydrogenase) and accumulation of gamma-hydroxybutyrate associated with its deficiency. Hum Genomics. 2009;3(2):106–120.
- Kim KJ, Pearl PL, Jensen K, et al. Succinic semialdehyde dehydrogenase: biochemical-molecular-clinical disease mechanisms, redox regulation, and functional significance. Antioxid Redox Signal. 2011;15(3):691–718.
- Pearl PL, Wiwattanadittakul N, Roullet JB, et al. Succinic semialdehyde dehydrogenase deficiency. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2019.
- Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res. 2001;11(5):863–874.
- Adzhubei I, Jordan DM, Sunyaev SR. Predicting functional effect of human missense mutations using PolyPhen-2. Curr Protoc Hum Genet. 2013;7:Unit7.20.
- Schwarz JM, Cooper DN, Schuelke M, et al. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11(4):361–362.
- Rigsby RE, Parker AB. Using the PyMOL application to reinforce visual understanding of protein structure. Biochem Mol Biol Educ. 2016;44(5):433–437.
- Wang P, Cai F, Cao L, et al. Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency. BMC Med Genet. 2019;20(1):88.
- Manrique MG, Ferrero GC, Jimenez DA, et al. Psychomotor delay, hypotonia, and behavioural disorders: a case of succinic semialdehyde dehydrogenase deficiency. Neurologia. 2018;33:63–65.
- Bean L, Hegde MR. Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines. Genome Med. 2017;9(1):111.
- Kim YG, Lee S, Kwon OS, et al. Redox-switch modulation of human SSADH by dynamic catalytic loop. EMBO J. 2009;28(7):959–968.
- Oksanen E, Chen JC-H, Fisher SZ. Neutron crystallography for the study of hydrogen bonds in macromolecules. Molecules. 2017;22(4):596–622.
- Chen D, Oezguen N, Urvil P, et al. Regulation of protein-ligand binding affinity by hydrogen bond pairing. Sci Adv. 2016;2(3):e1501240.