Targeting ferroptosis: A novel therapeutic strategy for the treatment of mitochondrial disease-related epilepsy

Regulation of lipid peroxidation and ferroptosis in diverse species

(2018) Marcus Conrad et al.   GENES & DEVELOPMENT

Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency

(2018) Elise Vantroys et al.   Orphanet Journal of Rare Diseases

Oxytosis/Ferroptosis—(Re-) Emerging Roles for Oxidative Stress-Dependent Non-apoptotic Cell Death in Diseases of the Central Nervous System

(2018) Jan Lewerenz et al.   Frontiers in Neuroscience

Iron accumulation in senescent cells is coupled with impaired ferritinophagy and inhibition of ferroptosis

(2018) Shashank Masaldan et al.   Redox Biology

Vitamin E hydroquinone is an endogenous regulator of ferroptosis via redox control of 15-lipoxygenase

(2018) Andrew Hinman et al.   PLoS One

Effects of antiepileptic drugs on mitochondrial functions, morphology, kinetics, biogenesis, and survival

(2017) Josef Finsterer et al.   EPILEPSY RESEARCH

RARS2mutations in a sibship with infantile spasms

(2016) Adeline Ngoh et al.   EPILEPSIA

RARS2 mutations cause early onset epileptic encephalopathy without ponto-cerebellar hypoplasia

(2016) Daniella Nishri et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The NIH Undiagnosed Diseases Program and Network: Applications to modern medicine

(2016) William A. Gahl et al.   MOLECULAR GENETICS AND METABOLISM

Oxidized arachidonic and adrenic PEs navigate cells to ferroptosis

(2016) Valerian E Kagan et al.   Nature Chemical Biology

'Mitochondrial energy imbalance and lipid peroxidation cause cell death in Friedreich’s ataxia'

(2016) R Abeti et al.   Cell Death & Disease

Antioxidants as a Preventive Treatment for Epileptic Process: A Review of the Current Status

(2015) Bostjan Martinc et al.   Current Neuropharmacology

A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings

(2015) Zejuan Li et al.   JOURNAL OF HUMAN GENETICS

Neuropathologic Characterization of Pontocerebellar Hypoplasia Type 6 Associated With Cardiomyopathy and Hydrops Fetalis and Severe Multisystem Respiratory Chain Deficiency due to NovelRARS2Mutations

(2015) Nichola Z. Lax et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Mitochondrial dysfunction and seizures: the neuronal energy crisis

(2015) Gábor Zsurka et al.   LANCET NEUROLOGY

Selenoprotein biosynthesis defect causes progressive encephalopathy with elevated lactate

(2015) Anna-Kaisa Anttonen et al.   NEUROLOGY

Selenoproteins in Nervous System Development and Function

(2014) Matthew W. Pitts et al.   BIOLOGICAL TRACE ELEMENT RESEARCH

Cerebellar Hypoplasia in Mice Lacking Selenoprotein Biosynthesis in Neurons

(2014) Eva K. Wirth et al.   BIOLOGICAL TRACE ELEMENT RESEARCH

Regulation of Ferroptotic Cancer Cell Death by GPX4

(2014) Wan Seok Yang et al.   CELL

Highly Energized Inhibitory Interneurons are a Central Element for Information Processing in Cortical Networks

(2014) Oliver Kann et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia

(2014) Amanda C Smith et al.   JOURNAL OF MEDICAL GENETICS

Neuropathologic Features of Pontocerebellar Hypoplasia Type 6

(2014) Jeffrey T. Joseph et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Degree of Glutathione Deficiency and Redox Imbalance Depend on Subtype of Mitochondrial Disease and Clinical Status

(2014) Gregory M. Enns et al.   PLoS One

Oxidative damage to macromolecules in human Parkinson disease and the rotenone model

(2013) Laurie H. Sanders et al.   FREE RADICAL BIOLOGY AND MEDICINE

Cerebral Energy Metabolism and the Brain’s Functional Network Architecture: An Integrative Review

(2013) Louis-David Lord et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Simplified gyral pattern with cerebellar hypoplasia in Sedaghatian type spondylometaphyseal dysplasia: A clinical report and review of the literature

(2012) Canan Aygun et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ferroptosis: An Iron-Dependent Form of Nonapoptotic Cell Death

(2012) Scott J. Dixon et al.   CELL

Mitochondrial disease and epilepsy

(2012) SHAMIMA RAHMAN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases

(2012) William A. Gahl et al.   GENETICS IN MEDICINE

Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients

(2012) Denise Cassandrini et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Oxidative stress in patients with epilepsy is independent of antiepileptic drugs

(2012) Bindu Menon et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

The NIH Undiagnosed Diseases Program

(2011) William A. Gahl   JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION

Further delineation of pontocerebellar hypoplasia type 6 due to mutations in the gene encoding mitochondrial arginyl-tRNA synthetase, RARS2

(2011) Emma Glamuzina et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Initial experience in the treatment of inherited mitochondrial disease with EPI-743

(2011) Gregory M. Enns et al.   MOLECULAR GENETICS AND METABOLISM

Classification, diagnosis and potential mechanisms in Pontocerebellar Hypoplasia

(2011) Yasmin Namavar et al.   Orphanet Journal of Rare Diseases

Mutations Disrupting Selenocysteine Formation Cause Progressive Cerebello-Cerebral Atrophy

(2010) Orly Agamy et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pontocerebellar hypoplasia type 6: A British case with PEHO-like features

(2010) Julia Rankin et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia

(2010) Yasmin Namavar et al.   BRAIN

Neuronal selenoprotein expression is required for interneuron development and prevents seizures and neurodegeneration

(2009) Eva K. Wirth et al.   FASEB JOURNAL

Glutathione Peroxidase 4 Senses and Translates Oxidative Stress into 12/15-Lipoxygenase Dependent- and AIF-Mediated Cell Death

(2008) Alexander Seiler et al.   Cell Metabolism

Synthetic Lethal Screening Identifies Compounds Activating Iron-Dependent, Nonapoptotic Cell Death in Oncogenic-RAS-Harboring Cancer Cells

(2008) Wan Seok Yang et al.   CHEMISTRY & BIOLOGY

Epilepsy and Respiratory Chain Defects in Children with Mitochondrial Encephalopathies

(2008) D. Khurana et al.   NEUROPEDIATRICS