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Genome research to understand the molecular complexity of genetic disease
dehydrogenase complex (KGDHC; EC 1.2.4.2, EC 2.3.1.61, and EC 1.6.4.3) converts α-ketoglutarate into succinyl CoA. Lower levels of KGDHC induce caspase 3 to resulting in neurodegeneration (Huang et al [...] 33del13bp
Exon2
Y109X, D114E, D114Y, G123E, I143T, 244delA, 245insA, IVS1 - 2A>T
Exon 3
C152R, C152Y, C152W, R168C, IVS2 del- 2A, -3C
Exon4
P181T, P183H, Q184X, V186F, M195R, 527 del6bp, 566del7bp
Exon5
K213E E214X [...] INTRODUCTION
Canavan disease (CD) is a neurodegenerative disorder. Aspartoacylase/aminoacylase II (ASPA; EC 3.5.1.15) hydrolyses N-acetylaspartic acid (NAA) to aspartate and acetate (Birnbaum, 1955; Birnbaum et …