Cellular and animal models for mitochondrial complex I deficiency: A focus on the NDUFS4 subunit

Trolox-Sensitive Reactive Oxygen Species Regulate Mitochondrial Morphology, Oxidative Phosphorylation and Cytosolic Calcium Handling in Healthy Cells

(2012) Felix Distelmaier et al.   ANTIOXIDANTS & REDOX SIGNALING

Metabolic consequences of NDUFS4 gene deletion in immortalized mouse embryonic fibroblasts

(2012) Federica Valsecchi et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Isolated Mitochondrial Complex I Deficiency: Explorative Data Analysis of Patient Cell Parameters

(2012) Lionel Blanchet et al.   CURRENT PHARMACEUTICAL DESIGN

Subunit-specific Incorporation Efficiency and Kinetics in Mitochondrial Complex I Homeostasis

(2012) Cindy E. J. Dieteren et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Fatal breathing dysfunction in a mouse model of Leigh syndrome

(2012) Albert Quintana et al.   JOURNAL OF CLINICAL INVESTIGATION

Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases

(2012) S. Koene et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Monogenic Mitochondrial Disorders

(2012) Werner J.H. Koopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis

(2011) A.M. Voets et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Respiratory chain complex I, a main regulatory target of the cAMP/PKA pathway is defective in different human diseases

(2011) Sergio Papa et al.   FEBS LETTERS

Activation of the cAMP cascade in human fibroblast cultures rescues the activity of oxidatively damaged complex I

(2011) Domenico De Rasmo et al.   FREE RADICAL BIOLOGY AND MEDICINE

Altered dopamine metabolism and increased vulnerability to MPTP in mice with partial deficiency of mitochondrial complex I in dopamine neurons

(2011) F. H. Sterky et al.   HUMAN MOLECULAR GENETICS

Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity

(2011) M. A. Calvaruso et al.   HUMAN MOLECULAR GENETICS

Loss of mitochondrial complex I activity potentiates dopamine neuron death induced by microtubule dysfunction in a Parkinson’s disease model

(2011) Won-Seok Choi et al.   JOURNAL OF CELL BIOLOGY

Modeling mitochondrial dysfunctions in the brain: from mice to men

(2011) Megan E. Breuer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pharmacological targeting of mitochondrial complex I deficiency: The cellular level and beyond

(2011) Peggy Roestenberg et al.   MITOCHONDRION

cAMP-dependent protein kinase regulates post-translational processing and expression of complex I subunits in mammalian cells

(2010) Sergio Papa et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS

Mitochondrial DNA mutations affect calcium handling in differentiated neurons

(2010) Andrew J. Trevelyan et al.   BRAIN

Risk Assessment in Extrapolation of Pharmacokinetics from Preclinical Data to Humans

(2010) Zvi Teitelbaum et al.   CLINICAL PHARMACOKINETICS

Neuroprotection by a mitochondria-targeted drug in a Parkinson's disease model

(2010) Anamitra Ghosh et al.   FREE RADICAL BIOLOGY AND MEDICINE

Phosphorylation pattern of the NDUFS4 subunit of complex I of the mammalian respiratory chain

(2010) Domenico De Rasmo et al.   MITOCHONDRION

Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome

(2010) A. Quintana et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mammalian Mitochondrial Complex I: Biogenesis, Regulation, and Reactive Oxygen Species Generation

(2009) Werner J.H. Koopman et al.   ANTIOXIDANTS & REDOX SIGNALING

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease

(2009) F. Distelmaier et al.   BRAIN

The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency

(2009) Felix Distelmaier et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

NDUFS4: Creation of a mouse model mimicking a Complex I disorder

(2009) Christopher A. Ingraham et al.   MITOCHONDRION

NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement

(2009) E. Leshinsky-Silver et al.   MOLECULAR GENETICS AND METABOLISM

Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency☆

(2008) P WILLEMS et al.   CELL CALCIUM

Mice with Mitochondrial Complex I Deficiency Develop a Fatal Encephalomyopathy

(2008) Shane E. Kruse et al.   Cell Metabolism

Genetic Background and the Dilemma of Translating Mouse Studies to Humans

(2008) Juan Rivera et al.   IMMUNITY

Mitochondrial complex I inhibition is not required for dopaminergic neuron death induced by rotenone, MPP+, or paraquat

(2008) W.-S. Choi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA