Mitochondrial dysfunction in inherited renal disease and acute kidney injury

Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

(2015) Gráinne S. Gorman et al.   ANNALS OF NEUROLOGY

Mitochondrial Replacement: Ethics and Identity

(2015) Anthony Wrigley et al.   BIOETHICS

Metabolic control via the mitochondrial protein import machinery

(2015) Magdalena Opalińska et al.   CURRENT OPINION IN CELL BIOLOGY

The clinical heterogeneity of coenzyme Q10 deficiency results from genotypic differences in the Coq9 gene

(2015) M. Luna-Sanchez et al.   EMBO Molecular Medicine

Primary coenzyme Q10 deficiency presenting as fatal neonatal multiorgan failure

(2015) Maria Andrea Desbats et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Molecular diagnosis of coenzyme Q10deficiency

(2015) Delia Yubero et al.   EXPERT REVIEW OF MOLECULAR DIAGNOSTICS

Sirtuin 3–dependent mitochondrial dynamic improvements protect against acute kidney injury

(2015) Marina Morigi et al.   JOURNAL OF CLINICAL INVESTIGATION

Rescue of primary ubiquinone deficiency due to a novelCOQ7defect using 2,4–dihydroxybensoic acid

(2015) Christoph Freyer et al.   JOURNAL OF MEDICAL GENETICS

Subacute necrotising encephalomyelopathy (Leigh's disease; Leigh syndrome)

(2015) P N Leigh et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

The urinary proteome and metabonome differ from normal in adults with mitochondrial disease

(2015) Andrew M. Hall et al.   KIDNEY INTERNATIONAL

Molecular characterization of the human COQ5 C-methyltransferase in coenzyme Q10 biosynthesis

(2014) Theresa P.T. Nguyen et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

A novel homozygous YARS2 mutation causes severe myopathy, lactic acidosis and sideroblastic anemia 2

(2014) Junya Nakajima et al.   JOURNAL OF HUMAN GENETICS

Genetic bases and clinical manifestations of coenzyme Q10 (CoQ10) deficiency

(2014) Maria Andrea Desbats et al.   JOURNAL OF INHERITED METABOLIC DISEASE

TMEM70 deficiency: long-term outcome of 48 patients

(2014) Martin Magner et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Brain imaging in mitochondrial respiratory chain deficiency: combination of brain MRI features as a useful tool for genotype/phenotype correlations

(2014) M Bricout et al.   JOURNAL OF MEDICAL GENETICS

Deficient Autophagy Results in Mitochondrial Dysfunction and FSGS

(2014) T. Kawakami et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

(2014) C. E. Sadowski et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Formoterol Restores Mitochondrial and Renal Function after Ischemia-Reperfusion Injury

(2014) S. R. Jesinkey et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Mistargeting of Peroxisomal EHHADH and Inherited Renal Fanconi's Syndrome

(2014) Enriko D. Klootwijk et al.   NEW ENGLAND JOURNAL OF MEDICINE

Substrate Modulation of Fatty Acid Effects on Energization and Respiration of Kidney Proximal Tubules during Hypoxia/Reoxygenation

(2014) Anja Bienholz et al.   PLoS One

Mutations in FBXL4, Encoding a Mitochondrial Protein, Cause Early-Onset Mitochondrial Encephalomyopathy

(2013) Xiaowu Gai et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mechanisms of Cardiac and Renal Dysfunction in Patients Dying of Sepsis

(2013) Osamu Takasu et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics

(2013) Daniela De Rocco et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Effect of vanillic acid on COQ6 mutants identified in patients with coenzyme Q10 deficiency

(2013) Mara Doimo et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Mitochondrial dysfunction and mitophagy: the beginning and end to diabetic nephropathy?

(2013) G C Higgins et al.   BRITISH JOURNAL OF PHARMACOLOGY

Mitochondrial Cristae Shape Determines Respiratory Chain Supercomplexes Assembly and Respiratory Efficiency

(2013) Sara Cogliati et al.   CELL

Simultaneous Sequencing of 24 Genes Associated with Steroid-Resistant Nephrotic Syndrome

(2013) H. J. McCarthy et al.   Clinical Journal of the American Society of Nephrology

Early myoclonic epilepsy, hypertrophic cardiomyopathy and subsequently a nephrotic syndrome in a patient with CoQ10 deficiency caused by mutations in para-hydroxybenzoate-polyprenyl transferase (COQ2)

(2013) Emmanuel Scalais et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Severe renal tubulopathy in a newborn due to BCS1L gene mutation: Effects of different treatment modalities on the clinical course

(2013) Fatih Ezgu et al.   GENE

Diagnosis of mitochondrial disorders by concomitant next-generation sequencing of the exome and mitochondrial genome

(2013) Darrell L. Dinwiddie et al.   GENOMICS

Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

(2013) Sze Chern Lim et al.   HUMAN MOLECULAR GENETICS

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

(2013) Shazia Ashraf et al.   JOURNAL OF CLINICAL INVESTIGATION

Amelioration of rhabdomyolysis-induced renal mitochondrial injury and apoptosis through suppression of Drp-1 translocation

(2013) Wan-Xin Tang et al.   JOURNAL OF NEPHROLOGY

Tolerance of the Human Kidney to Isolated Controlled Ischemia

(2013) D. J. Parekh et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings

(2013) Chitra Prasad et al.   MOLECULAR GENETICS AND METABOLISM

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options

(2013) Ayman W. El-Hattab et al.   Neurotherapeutics

Mutations in COQ2 in Familial and Sporadic Multiple-System Atrophy

(2013)   NEW ENGLAND JOURNAL OF MEDICINE

Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression

(2013) Elena J. Tucker et al.   PLoS Genetics

Renal involvement in MELAS syndrome – a series of 5 cases and review of the literature

(2012) Alexandre Seidowsky et al.   CLINICAL NEPHROLOGY

A rare case report of simultaneous presentation of myopathy, Addison's disease, primary hypoparathyroidism, and Fanconi syndrome in a child diagnosed with Kearns–Sayre syndrome

(2012) Meropi Tzoufi et al.   EUROPEAN JOURNAL OF PEDIATRICS

Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice

(2012) Catarina M. Quinzii et al.   FASEB JOURNAL

Deep sequencing unearths Nuclear mitochondrial Sequences under Leber's hereditary optic neuropathy-associated false heteroplasmic mitochondrial DNA variants

(2012) Vittoria Petruzzella et al.   HUMAN MOLECULAR GENETICS

Cisplatin Nephrotoxicity Involves Mitochondrial Injury with Impaired Tubular Mitochondrial Enzyme Activity

(2012) Zsuzsanna K. Zsengellér et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

Autophagy in proximal tubules protects against acute kidney injury

(2012) Man Jiang et al.   KIDNEY INTERNATIONAL

Assessment of mitochondrial respiratory chain enzymatic activities on tissues and cultured cells

(2012) Marco Spinazzi et al.   Nature Protocols

Human mitochondrial DNA: roles of inherited and somatic mutations

(2012) Eric A. Schon et al.   NATURE REVIEWS GENETICS

Neuroimaging in Mitochondrial Disorders

(2012) Andrea L. Gropman   Neurotherapeutics

A Novel 3670-Base Pair Mitochondrial DNA Deletion Resulting in Multi-systemic Manifestations in a Child

(2012) Hsin-Ming Liu et al.   Pediatrics and Neonatology

Next-generation sequencing for mitochondrial diseases: A wide diagnostic spectrum

(2012) Valeria Vasta et al.   PEDIATRICS INTERNATIONAL

Mutations in the Mitochondrial Seryl-tRNA Synthetase Cause Hyperuricemia, Pulmonary Hypertension, Renal Failure in Infancy and Alkalosis, HUPRA Syndrome

(2011) Ruth Belostotsky et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Podocyte Biology for the Bedside

(2011) J. Ashley Jefferson et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Coenzyme Q deficiency in muscle

(2011) Eva Trevisson et al.   CURRENT OPINION IN NEUROLOGY

Probucol ameliorates renal and metabolic sequelae of primary CoQ deficiency inPdss2mutant mice

(2011) Marni J. Falk et al.   EMBO Molecular Medicine

Cytochrome c biogenesis in mitochondria - Systems III and V

(2011) James W. A. Allen   FEBS Journal

Mitochondrial-targeted antioxidants represent a promising approach for prevention of cisplatin-induced nephropathy

(2011) Partha Mukhopadhyay et al.   FREE RADICAL BIOLOGY AND MEDICINE

Next-generation sequencing in molecular diagnosis:NUBPLmutations highlight the challenges of variant detection and interpretation

(2011) Elena J. Tucker et al.   HUMAN MUTATION

PGC-1α promotes recovery after acute kidney injury during systemic inflammation in mice

(2011) Mei Tran et al.   JOURNAL OF CLINICAL INVESTIGATION

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

(2011) Saskia F. Heeringa et al.   JOURNAL OF CLINICAL INVESTIGATION

Contribution of muscle biopsy and genetics to the diagnosis of chronic progressive external opthalmoplegia of mitochondrial origin

(2011) Challa Sundaram et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Mitochondria-Targeted Peptide Accelerates ATP Recovery and Reduces Ischemic Kidney Injury

(2011) H. H. Szeto et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

(2011) Anu Suomalainen et al.   LANCET NEUROLOGY

176th ENMC International Workshop: Diagnosis and treatment of coenzyme Q10 deficiency

(2011) Shamima Rahman et al.   NEUROMUSCULAR DISORDERS

Renal involvement in mitochondrial cytopathies

(2011) Francesco Emma et al.   PEDIATRIC NEPHROLOGY

A Toll-Like Receptor 2 Pathway Regulates the Ppargc1a/b Metabolic Co-Activators in Mice with Staphylococcal aureus Sepsis

(2011) Timothy E. Sweeney et al.   PLoS One

Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency

(2010) Catarina M. Quinzii et al.   FASEB JOURNAL

Circulating mitochondrial DAMPs cause inflammatory responses to injury

(2010) Qin Zhang et al.   NATURE

Treatment of CoQ10 Deficient Fibroblasts with Ubiquinone, CoQ Analogs, and Vitamin C: Time- and Compound-Dependent Effects

(2010) Luis C. López et al.   PLoS One

Differential Regulation of the PGC Family of Genes in a Mouse Model of Staphylococcus aureus Sepsis

(2010) Timothy E. Sweeney et al.   PLoS One

A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

(2009) Andrew J. Duncan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS

(2009) Mahsa Mehrazin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Regulation of mitochondrial dynamics in acute kidney injury in cell culture and rodent models

(2009) Craig Brooks et al.   JOURNAL OF CLINICAL INVESTIGATION

Transgenic expression of proximal tubule peroxisome proliferator–activated receptor-α in mice confers protection during acute kidney injury

(2009) Shenyang Li et al.   KIDNEY INTERNATIONAL

ADCK3, an Ancestral Kinase, Is Mutated in a Form of Recessive Ataxia Associated with Coenzyme Q10 Deficiency

(2008) Clotilde Lagier-Tourenne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures

(2008) Julie Mollet et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mitochondrial Disorders in the Nervous System

(2008) Salvatore DiMauro et al.   Annual Review of Neuroscience

Analysis of Coenzyme Q10 in muscle and fibroblasts for the diagnosis of CoQ10 deficiency syndromes

(2008) Raquel Montero et al.   CLINICAL BIOCHEMISTRY

Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

(2008) D. P. Dimmock et al.   HUMAN MUTATION

Respiratory Active Mitochondrial Supercomplexes

(2008) Rebeca Acín-Pérez et al.   MOLECULAR CELL

Mitofusin 2 tethers endoplasmic reticulum to mitochondria

(2008) Olga Martins de Brito et al.   NATURE

A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia

(2008) Ian M Morison et al.   NATURE GENETICS

Early Coenzyme Q10 Supplementation in Primary Coenzyme Q10 Deficiency

(2008) Giovanni Montini et al.   NEW ENGLAND JOURNAL OF MEDICINE

Primary Coenzyme Q Deficiency in Pdss2 Mutant Mice Causes Isolated Renal Disease

(2008) Min Peng et al.   PLoS Genetics