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In Silico Analysis of the L-2-Hydroxyglutarate Dehydrogenase Gene Mutations and Their Biological Impact on Disease Etiology.

Genes - 15 Apr 2022

Muzammal Muhammad, Di Cerbo Alessandro, Almusalami Eman M, Farid Arshad, Khan Muzammil Ahmad, Ghazanfar Shakira, Al Mohaini Mohammed, Alsalman Abdulkhaliq J, Alhashem Yousef N, Al Hawaj Maitham A, Alsaleh Abdulmonem A

Abstract excerpt

The L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene encodes an important mitochondrial enzyme. However, its altered activity results in excessive levels of L-2-hydroxyglutarate, which results in diverse psychiatric features of intellectual disability. In the current study, we executed an in-silico analysis of all reported L2HGDH missense and nonsense variants in order to investigate their biological...

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PMID: 35456504
DOI: 10.3390/genes13040698
PMCID: PMC9028441

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