Functional characterization of a spectrum of genetic variants in a family with succinic semialdehyde dehydrogenase deficiency

HIGHLIGHTS

• What: The authors provide a structural and functional characterization of these variants and show that Cys93Phe and Asn255Asp are pathogenic variants that affect the stability of the SSADH protein. The authors have assessed personalized treatment strategies for an SSADH-D patient based on detailed molecular characterization of the consequences of the pathogenic SSADH variants.
• Who: Miroslava Didiasova and colleagues from the Institute of Biochemistry, Medical Faculty, University of Giessen, Friedrichstrasse , have published the research: Functional Characterization of a Spectrum of Genetic Variants in a Family with Succinic Semialdehyde Dehydrogenase Deficiency, in the Journal: (JOURNAL)
 



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