In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction

In depth profiling of dihydrolipoamide dehydrogenase deficiency in primary patients fibroblasts reveals metabolic reprogramming secondary to mitochondrial dysfunction

Dihydrolipoamide dehydrogenase (DLD) deficiency is an autosomal recessive disorder characterized by a functional disruption in several critical mitochondrial enzyme complexes, including pyruvate dehydrogenase and α-ketoglutarate dehydrogenase. Despite DLD's pivotal role in cellular energy metab...

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Bibliographic Details
Main Authors: Uri Sprecher, Jeevitha Dsouza, Monzer Marisat, Dinorah Barasch, Kumudesh Mishra, Or Kakhlon, Ph.D., Joshua Manor, MD.Ph.D., Yair Anikster, MD. Ph.D., Miguel Weil, Ph.D.
Format: Article
Language:English
Published: Elsevier 2025-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Dihydrolipoamide dehydrogenase deficiency
Metabolic disorder
Patient study
Primary skin fibroblasts
Mitochondrial activity
Image based high content analysis
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426924001253

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http://www.sciencedirect.com/science/article/pii/S2214426924001253

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