Assembly factors as a new class of disease genes for mitochondrial complex I deficiency: cause, pathology and treatment options

Respiratory chain complex I deficiency caused by mitochondrial DNA mutations

(2011) Helen Swalwell et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Severe X-Linked Mitochondrial Encephalomyopathy Associated with a Mutation in Apoptosis-Inducing Factor

(2010) Daniele Ghezzi et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

(2010) Mike Gerards et al.   BRAIN

Acyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I

(2010) Jessica Nouws et al.   Cell Metabolism

Branched-Chain Amino Acid Supplementation Promotes Survival and Supports Cardiac and Skeletal Muscle Mitochondrial Biogenesis in Middle-Aged Mice

(2010) Giuseppe D'Antona et al.   Cell Metabolism

Molecular chaperone-mediated rescue of mitophagy by a Parkin RING1 domain mutant

(2010) Johanna M. Rose et al.   HUMAN MOLECULAR GENETICS

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy

(2010) Elisa Fassone et al.   HUMAN MOLECULAR GENETICS

Five Entry Points of the Mitochondrially Encoded Subunits in Mammalian Complex I Assembly

(2010) E. Perales-Clemente et al.   MOLECULAR AND CELLULAR BIOLOGY

Leukoencephalopathy with vanishing white matter caused by compound heterozygous mutations in mitochondrial complex I NDUFS1 subunit

(2010) Hélène Pagniez-Mammeri et al.   MOLECULAR GENETICS AND METABOLISM

Novel mutations in the NDUFS1 gene cause low residual activities in human complex I deficiencies

(2010) Saskia J.G. Hoefs et al.   MOLECULAR GENETICS AND METABOLISM

Convergence of Amyloid-β and Tau Pathologies on Mitochondria In Vivo

(2010) Anne Eckert et al.   MOLECULAR NEUROBIOLOGY

Dealing with Misfolded Proteins: Examining the Neuroprotective Role of Molecular Chaperones in Neurodegeneration

(2010) Yousuf O. Ali et al.   MOLECULES

A randomized trial of coenzyme Q10in mitochondrial disorders

(2010) Elisa I. Glover et al.   MUSCLE & NERVE

The architecture of respiratory complex I

(2010) Rouslan G. Efremov et al.   NATURE

Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency

(2010) Tobias B Haack et al.   NATURE GENETICS

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

(2010) Daniela Di Bella et al.   NATURE GENETICS

High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency

(2010) Sarah E Calvo et al.   NATURE GENETICS

Leigh Disease with Brainstem Involvement in Complex I Deficiency due to Assembly Factor NDUFAF2 Defect

(2010) M. Herzer et al.   NEUROPEDIATRICS

Mutations in NDUFAF3 (C3ORF60), Encoding an NDUFAF4 (C6ORF66)-Interacting Complex I Assembly Protein, Cause Fatal Neonatal Mitochondrial Disease

(2009) Ann Saada et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial dysfunction in Parkinson's disease

(2009) Konstanze F. Winklhofer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease

(2009) F. Distelmaier et al.   BRAIN

Management of mitochondrial stroke-like-episodes

(2009) J. Finsterer   EUROPEAN JOURNAL OF NEUROLOGY

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder

(2009) R. J.R.J. Janssen et al.   HUMAN MOLECULAR GENETICS

Baculovirus complementation restores a novelNDUFAF2mutation causing complex I deficiency

(2009) Saskia J.G. Hoefs et al.   HUMAN MUTATION

Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome

(2009) M. Gerards et al.   JOURNAL OF MEDICAL GENETICS

Human Ind1, an Iron-Sulfur Cluster Assembly Factor for Respiratory Complex I

(2009) A. D. Sheftel et al.   MOLECULAR AND CELLULAR BIOLOGY

Treatment of mitochondrial electron transport chain disorders: A review of clinical trials over the past decade

(2009) Douglas S. Kerr   MOLECULAR GENETICS AND METABOLISM

LC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexes

(2009) Hans J. C. T. Wessels et al.   PROTEOMICS

C6ORF66 Is an Assembly Factor of Mitochondrial Complex I

(2008) Ann Saada et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

(2008) Canny Sugiana et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Preventing β-amyloid fibrillization and deposition: β-sheet breakers and pathological chaperone inhibitors

(2008) Thomas Wisniewski et al.   BMC NEUROSCIENCE

A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology

(2008) David J. Pagliarini et al.   CELL

RETRACTED: Activation of the PPAR/PGC-1α Pathway Prevents a Bioenergetic Deficit and Effectively Improves a Mitochondrial Myopathy Phenotype

(2008) Tina Wenz et al.   Cell Metabolism

Inherited mitochondrial optic neuropathies

(2008) P Yu-Wai-Man et al.   JOURNAL OF MEDICAL GENETICS

The unique neuroradiology of complex I deficiency due to NDUFA12L defect

(2008) Flora Barghuti et al.   MOLECULAR GENETICS AND METABOLISM

Leigh and Leigh-Like Syndrome in Children and Adults

(2008) Josef Finsterer   PEDIATRIC NEUROLOGY