Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency

Manuel Schiff, Birgit Haberberger, Chuanwu Xia, +17

Human Molecular Genetics

Acad9 DeficiencyLipid PeroxidationEnzyme Acad ActivityMolecular BiologyAcyl-coa Dehydrogenase 9 +15

Evaluation of mitochondrial bioenergetics, dynamics, endoplasmic reticulum-mitochondria crosstalk, and reactive oxygen species in fibroblasts from patients with complex I deficiency

Guilhian Leipnitz, Al‐Walid Mohsen, Anuradha Karunanidhi, +8

Scientific Reports

Mitochondrial energetics is impaired in very long-chain acyl-CoA dehydrogenase deficiency and can be rescued by treatment with mitochondria-targeted electron scavengers

Bianca Seminotti, Guilhian Leipnitz, Anuradha Karunanidhi, +7

Human Molecular Genetics

Mitochondria-targeted Electron ScavengersMitochondrial EnergeticsLipid PeroxidationMolecular BiologyMitochondrial Biology +22

Long-chain Acyl-CoA Dehydrogenase Deficiency as a Cause of Pulmonary Surfactant Dysfunction

Eric S. Goetzman, John F. Alcorn, Sivakama S. Bharathi, +17

Journal of Biological Chemistry

Molecular and cellular pathology of very-long-chain acyl-CoA dehydrogenase deficiency

Manuel Schiff, Al‐Walid Mohsen, Anuradha Karunanidhi, +3

Molecular Genetics and Metabolism

Aldehyde DehydrogenaseGeneticsPathologyMolecular GeneticsMetabolism +3

Mitochondrial dysfunction associated with TANGO2 deficiency

Paige Heiman, Al‐Walid Mohsen, Anuradha Karunanidhi, +6

Scientific Reports

ETHE1 and MOCS1 deficiencies: Disruption of mitochondrial bioenergetics, dynamics, redox homeostasis and endoplasmic reticulum-mitochondria crosstalk in patient fibroblasts

Mateus Grings, Bianca Seminotti, Anuradha Karunanidhi, +6

Scientific Reports

MitophagyPathologyRedox HomeostasisMocs1 DeficienciesRedox Biology +15

Investigating the link of <i>ACAD10</i> deficiency to type 2 diabetes mellitus

Kaitlyn Bloom, Al‐Walid Mohsen, Anuradha Karunanidhi, +13

Journal of Inherited Metabolic Disease

Clinical, biochemical, mitochondrial, and metabolomic aspects of methylmalonate semialdehyde dehydrogenase deficiency: Report of a fifth case

Steven F. Dobrowolski, Ahmad Alodaib, Anuradha Karunanidhi, +5

Molecular Genetics and Metabolism

Fifth CaseAldehyde DehydrogenaseBiochemistryMetabolic DiseaseInherited Metabolic Disease +7

Reticular Dysgenesis and Mitochondriopathy Induced by Adenylate Kinase 2 Deficiency with Atypical Presentation

Lina Ghaloul‐Gonzalez, Al‐Walid Mohsen, Anuradha Karunanidhi, +8

Scientific Reports