Mitochondrial Complex 1 Deficiency Latest Advances

Find the Latest Research About Mitochondrial Complex 1 Deficiency

Last Updated: 02/24/2026

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Found 355 publications

Cell-Intrinsic Vulnerability and Immune Activation Cooperate to Drive Degeneration in a Mitochondrial Complex I Deficiency Model of Optic Neuropathy.

Cell-Intrinsic Vulnerability and Immune Activation Cooperate to Drive Degeneration in a Mitochondrial Complex I Deficiency Model of Optic Neuropathy.

Journal: bioRxiv : the preprint server for biology
Published: November 24, 2025

Region-Specific Quantification of 2-Hydroxyglutarate Enantiomers in Murine Brain during Mitochondrial Complex I Deficiency.

Region-Specific Quantification of 2-Hydroxyglutarate Enantiomers in Murine Brain during Mitochondrial Complex I Deficiency.

Journal: ACS chemical neuroscience
Published: October 16, 2025

Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology.

Biallelic TMEM126B Variants as a Novel Cause of Kidney Failure-Implications for Mitochondrial Genetic Testing in Nephrology.

Journal: Clinical genetics
Published: August 11, 2025

NDUFV1 mutation presenting as isolated progressive optic neuropathy: a unique manifestation of mitochondrial complex I deficiency.

NDUFV1 mutation presenting as isolated progressive optic neuropathy: a unique manifestation of mitochondrial complex I deficiency.

Journal: BMJ case reports
Published: July 18, 2025

Neuromuscular pathology and mitochondrial dysfunction in sorbitol dehydrogenase gene-related distal hereditary motor neuropathies.

Neuromuscular pathology and mitochondrial dysfunction in sorbitol dehydrogenase gene-related distal hereditary motor neuropathies.

Journal: Journal of neuropathology and experimental neurology
Published: June 28, 2025

Mutation of NDUFAF2 Linked to Mitochondrial Complex I Deficiency.

Mutation of NDUFAF2 Linked to Mitochondrial Complex I Deficiency.

Journal: Cureus
Published: June 23, 2025

Immuhistochemically-confirmed mitochondrial cardiomyopathy presenting as a conduction system hamartoma: A case report.

Immuhistochemically-confirmed mitochondrial cardiomyopathy presenting as a conduction system hamartoma: A case report.

Journal: Cardiovascular pathology : the official journal of the Society for Cardiovascular Pathology
Published: June 17, 2025

A Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene.

A Late-Onset and Mild Phenotype of Mitochondrial Complex I Deficiency Due to a Novel Reported Variant Within the ACAD9 Gene.

Journal: International journal of molecular sciences
Published: June 13, 2025

NDUFAF2 gene mutation presenting as primary pulmonary hypertension: a case report

NDUFAF2 gene mutation presenting as primary pulmonary hypertension: a case report

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
Published: June 04, 2025

Energy Metabolism Under Stress: Late-Stage Leigh Syndrome Reveals Profound Cardiometabolic Perturbations in Ndufs4 KO Mice.

Energy Metabolism Under Stress: Late-Stage Leigh Syndrome Reveals Profound Cardiometabolic Perturbations in Ndufs4 KO Mice.

Journal: Journal of inherited metabolic disease
Published: May 21, 2025

Targeting NDUFS8 in basal forebrain ameliorates cognitive decline related to chronic cerebral hypoperfusion.

Targeting NDUFS8 in basal forebrain ameliorates cognitive decline related to chronic cerebral hypoperfusion.

Journal: Theranostics
Published: May 16, 2025

Mitochondrial complex I deficiency induces Alzheimer's disease-like signatures that are reversible by targeted therapy.

Mitochondrial complex I deficiency induces Alzheimer's disease-like signatures that are reversible by targeted therapy.

Journal: Alzheimer's & dementia : the journal of the Alzheimer's Association
Published: May 15, 2025
Showing 1-12 of 355

Last Updated: 02/24/2026