Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked Defects

Dihydrolipoamide dehydrogenase (DLD) deficiency (MIM #246900) is a rare autosomal recessive mitochondrial disorder caused by pathogenic variants in the <i>DLD</i> gene, which encodes the E3 subunit common to multiple mitochondrial enzyme complexes, including pyruvate dehydrogenase (PDHc) and α-ketog...

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Hlavní autoři:	Yarden Haham Zarbib, Shira Huri Ohev-Shalom, Shani Kassia Lyskov, Yuval Mazor, Mika Anekstein-Spigel, Nechama Shalva, Ronen Spiegel, Orna Staretz-Chacham, Joshua Manor, Ann Saada, Rachel Rock, Yair Anikster, Tal Yardeni
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	MDPI AG 2025-12-01
Edice:	Antioxidants
Témata:	dihydrolipoamide dehydrogenase deficiency pyruvate dehydrogenase complex α-ketoglutarate dehydrogenase complex mitochondrial bioenergetics complex I dysfunction high-resolution respirometry
On-line přístup:	https://www.mdpi.com/2076-3921/15/1/19
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