A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog.

doi:10.3390/genes11091033

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A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog.

Genes - 2 Sept 2020

Vernau Karen M, Struys Eduard, Letko Anna, Woolard Kevin D, Aguilar Miriam, Brown Emily A, Cissell Derek D, Dickinson Peter J, Shelton G Diane, Broome Michael R, Gibson K Michael, Pearl Phillip L, König Florian, Van Winkle Thomas J, O'Brien Dennis, Roos B, Matiasek Kaspar, Jagannathan Vidhya, Drögemüller Cord, Mansour Tamer A, Brown C Titus, Bannasch Danika L

Abstract excerpt

Dogs provide highly valuable models of human disease due to the similarity in phenotype presentation and the ease of genetic analysis. Seven Saluki puppies were investigated for neurological abnormalities including seizures and altered behavior. Magnetic resonance imaging showed a diffuse, marked reduction in cerebral cortical thickness, and symmetrical T2 hyperintensity in specific brain regions. Cerebral...

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PMID: 32887425
DOI: 10.3390/genes11091033
PMCID: PMC7565783

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