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List of works by Wolfram S. Kunz

A VASP-Rac-soluble guanylyl cyclase pathway controls cGMP production in adipocytes

scientific article published on 28 August 2012

A homozygous splice-site mutation in CARS2 is associated with progressive myoclonic epilepsy

scientific article published on 31 October 2014

A novel potassium channel in skeletal muscle mitochondria.

scientific article

Altered mitochondrial oxidative phosphorylation in hippocampal slices of kainate-treated rats.

scientific article

Amelioration of water maze performance deficits by topiramate applied during pilocarpine-induced status epilepticus is negatively dose-dependent

scientific article published on 2 November 2006

Analysis of mitochondrial function in situ in permeabilized muscle fibers, tissues and cells

scientific article

Antidiabetic sulphonylureas activate mitochondrial permeability transition in rat skeletal muscle.

scientific article published in July 2005

Application of inhibitor titrations for the detection of oxidative phosphorylation defects in saponin-skinned muscle fibers of patients with mitochondrial diseases

scientific article published in April 1997

Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations

scientific article published in July 2008

BK channel openers inhibit ROS production of isolated rat brain mitochondria

scientific article published on 20 May 2008

Behavioral changes in G72/G30 transgenic mice.

scientific article published in February 2009

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

scientific article published on 08 June 2016

Binding of copper is a mechanism of homocysteine toxicity leading to COX deficiency and apoptosis in primary neurons, PC12 and SHSY-5Y cells

scientific article published on 28 July 2006

Blood-brain barrier dysfunction can contribute to pharmacoresistance of seizures

scientific article published on 3 July 2014

Burden analysis of rare microdeletions suggests a strong impact of neurodevelopmental genes in genetic generalised epilepsies

scientific article

Caffeine and Ca2+ stimulate mitochondrial oxidative phosphorylation in saponin-skinned human skeletal muscle fibers due to activation of actomyosin ATPase

scientific article published on 01 December 1994

Calcium ions regulate K⁺ uptake into brain mitochondria: the evidence for a novel potassium channel.

scientific article published on 12 March 2009

Changes in mitochondrial reactive oxygen species synthesis during differentiation of skeletal muscle cells

scientific article published on 20 July 2011

Chapter 23 Quantification of superoxide production by mouse brain and skeletal muscle mitochondria

scientific article published in January 2009

Characterization of superoxide production sites in isolated rat brain and skeletal muscle mitochondria

scientific article published on 22 March 2005

Characterization of superoxide-producing sites in isolated brain mitochondria

scientific article published on 18 November 2003

Chronic progressive external ophthalmoplegia and Kearns-Sayre syndrome : interdisciplinary diagnosis and therapy

scientific article published in June 2008

Clonal expansion of different mtDNA variants without selective advantage in solid tumors

scientific article published on 9 December 2008

Clonal expansions of mitochondrial genomes: implications for in vivo mutational spectra.

scientific article

Clonally expanded mitochondrial DNA mutations in epileptic individuals with mutated DNA polymerase gamma

scientific article

Complex III-dependent superoxide production of brain mitochondria contributes to seizure-related ROS formation

scientific article published on 6 March 2010

Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia

scientific article published on 01 April 2008

Control of reversible intracellular transfer of reducing potential ⬇️

scientific article published on January 1, 1991

Correlation of hippocampal glucose oxidation capacity and interictal FDG-PET in temporal lobe epilepsy.

scientific article published on February 2003

Cryopreservation of mitochondria and mitochondrial function in cardiac and skeletal muscle fibers.

scientific article published in August 2003

Cytochrome b reduction by hexaammineruthenium in mitochondria and submitochondrial particles. Evidence for heme b-562 localization at the M-side of the mitochondrial membrane

scientific article published on 01 September 1984

Cytosolic, but not matrix, calcium is essential for adjustment of mitochondrial pyruvate supply

scientific article published on 24 February 2020

Detection of mitochondrial defects by laser fluorimetry.

scientific article published on September 1997

Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosis

scientific article

Differences in flux control and reserve capacity of cytochrome c oxidase (COX) in human skeletal muscle and brain suggest different metabolic effects of mild COX deficiencies

scientific article published in January 2002

Different metabolic properties of mitochondrial oxidative phosphorylation in different cell types--important implications for mitochondrial cytopathies.

scientific article

Distinct patterns of mitochondrial genome diversity in bonobos (Pan paniscus) and humans

scientific article

Distinct segregation of the pathogenic m.5667G>A mitochondrial tRNA mutation in extraocular and skeletal muscle in chronic progressive external ophthalmoplegia

scientific article published on 25 February 2019

Distribution of flux control among the enzymes of mitochondrial oxidative phosphorylation in calcium-activated saponin-skinned rat musculus soleus fibers

scientific article published on 01 June 1995

Do Glut1 (glucose transporter type 1) defects exist in epilepsy patients responding to a ketogenic diet?

scientific article published in May 2015

Dose-dependent memory effects and cerebral volume changes after in utero exposure to valproate in the rat.

scientific article

Effect of 1-methyl-4-phenylpyridinium on glutathione in rat pheochromocytoma PC 12 cells

scientific article published in May 2000

Effect of b-c1-site inhibitors on the midpoint potentials of mitochondrial cytochromes b

scientific article published on 01 May 1983

Effect of coenzyme Q10 on the mitochondrial function of skin fibroblasts from Parkinson patients

scientific article

Effect of creatine supplementation on metabolite levels in ALS motor cortices

scientific article published in December 2001

Effects of bc1-site electron transfer inhibitors on the absorption spectra of mitochondrial cytochromes b.

scientific article published on February 1985

Energy-linked spectral shift of ferrocytochrome b in beef heart submitochondrial particles

scientific article published on 01 February 1983

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

scientific article published on 06 September 2013

Epileptic focus and alteration of metabolism

scientific article

Estimation of flux control coefficients from inhibitor titrations by non-linear regression

scientific article published in November 1990

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

scientific article

Evaluation of a procedure for the simultaneous determination of oxidized and reduced pyridine nucleotides and adenylates in organic phenol extracts from mitochondria

scientific article published in April 1992

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

scientific article published on 7 January 2013

Exonic microdeletions of the gephyrin gene impair GABAergic synaptic inhibition in patients with idiopathic generalized epilepsy

scientific article published on 19 February 2014

Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy

scientific article published on 15 July 2015

Fear processing and social networking in the absence of a functional amygdala.

scientific article

Flux control of cytochrome c oxidase in human skeletal muscle

scientific article published on 01 September 2000

Functional characterization of mitochondrial oxidative phosphorylation in saponin-skinned human muscle fibers

scientific article published on 01 August 1993

Genetic variation in dopaminergic activity is associated with the risk for psychiatric side effects of levetiracetam

scientific article published on 6 August 2012

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

scientific article

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

Glutamine affects glutamate metabolism in isolated rat kidney cortex mitochondria

scientific article published in June 1992

Guide to the Pharmacology of Mitochondrial Potassium Channels.

scientific article published on 13 November 2016

Heme is required for carbon monoxide activation of mitochondrial BKCa channel

scientific article published on 15 May 2020

Hemin inhibits the large conductance potassium channel in brain mitochondria: a putative novel mechanism of neurodegeneration

scientific article published on 30 April 2014

Hippocampal N-acetyl aspartate levels do not mirror neuronal cell densities in creatine-supplemented epileptic rats

scientific article published in October 2003

Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy

scientific article

Human epidermal keratinocytes accumulate superoxide due to low activity of Mn-SOD, leading to mitochondrial functional impairment

scientific article published on 21 December 2006

Impaired mitochondrial oxidative phosphorylation in skeletal muscle of the dystrophin-deficient mdx mouse

scientific article published in June 1998

Impairment of mitochondrial function in skeletal muscle of patients with amyotrophic lateral sclerosis

scientific article published on 01 January 1998

In vivo quantification of spinal and bulbar motor neuron degeneration in the G93A-SOD1 transgenic mouse model of ALS by T2 relaxation time and apparent diffusion coefficient

scientific article

Is There Still Any Role for Oxidative Stress in Mitochondrial DNA-Dependent Aging?

scientific article published on 21 March 2018

Is there mitochondrial dysfunction in amyotrophic lateral sclerosis skeletal muscle?

scientific article published on 01 May 2003

Large Phenotypic Variation of Individuals from a Family with a Novel ASPM Mutation Associated with Microcephaly, Epilepsy, and Behavioral and Cognitive Deficits

scientific article published on 28 February 2022

Laser-excited fluorescence studies of mitochondrial function in saponin-skinned skeletal muscle fibers of patients with chronic progressive external ophthalmoplegia.

scientific article published on December 1995

Linear mitochondrial DNA is rapidly degraded by components of the replication machinery.

scientific article published on 30 April 2018

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease

scientific article

Localization of a ferricyanide-reactive site of cytochrome b-c1 complex, possibly of cytochrome b or ubisemiquinone, at the outer face of submitochondrial particles

scientific article published on 01 July 1984

Loss of UCP2 attenuates mitochondrial dysfunction without altering ROS production and uncoupling activity

scientific article (publication date: June 2014)

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy

scientific article published on 17 December 2015

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

scientific article

Measurement of fluorescence changes of NAD(P)H and of fluorescent flavoproteins in saponin-skinned human skeletal muscle fibers.

scientific article published on February 1994

Mesial temporal lobe epilepsy associated with KCNT1 mutation

scientific article published in February 2017

Metabolic Epilepsies-Commemorative Issue in Honor of Professor Uwe Heinemann

scientific article published on 22 November 2017

Metabolic consequences of the cytochrome c oxidase deficiency in brain of copper-deficient Mo(vbr) mice

scientific journal article

Metabolic progression markers of neurodegeneration in the transgenic G93A-SOD1 mouse model of amyotrophic lateral sclerosis

scientific article published in March 2007

Microglial CD33-related Siglec-E inhibits neurotoxicity by preventing the phagocytosis-associated oxidative burst

scientific journal article

Mitochondrial BK Channel Openers CGS7181 and CGS7184 Exhibit Cytotoxic Properties

scientific article

Mitochondrial DNA damage and the aging process: facts and imaginations.

scientific article published on December 2006

Mitochondrial Liver Toxicity of Valproic Acid and Its Acid Derivatives Is Related to Inhibition of α-Lipoamide Dehydrogenase.

scientific article published on 6 September 2017

Mitochondrial changes in skeletal muscle in amyotrophic lateral sclerosis and other neurogenic atrophies--a comment

scientific article published on 01 December 2005

Mitochondrial complex I deficiency in a female with multiplex arthrogryposis congenita

scientific article published on 01 January 2000

Mitochondrial dysfunction and seizures: the neuronal energy crisis

scientific article published on September 2015

Mitochondrial dysfunction due to Leber's hereditary optic neuropathy as a cause of visual loss during assessment for epilepsy surgery

scientific article published on 09 December 2010

Mitochondrial dysfunction in epilepsy.

scientific article published on 20 April 2011

Mitochondrial dysfunction in myofibrillar myopathy

scientific article published in February 2003

Mitochondrial dysfunction in neurodegenerative disorders.

scientific article published on November 2007

Mitochondrial dysfunction in neurological disorders with epileptic phenotypes.

scientific article published on December 2010

Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6.

scientific article published on 30 November 2006

Mitochondrial oxidative phosphorylation in saponin-skinned human muscle fibers is stimulated by caffeine

scientific article published on 01 May 1993

Mitochondrial potassium channels and reactive oxygen species.

scientific article published on 16 January 2010

Mitochondrial potassium channels.

scientific article published on February 2009

Mitochondrial potassium channels: from pharmacology to function

scientific article published on 12 May 2006

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.

scientific article published on 28 August 2012

Mosaic Deficiency in Mitochondrial Oxidative Metabolism Promotes Cardiac Arrhythmia during Aging

scientific article

Multidrug resistance protein-1 affects oxidative stress, endothelial dysfunction, and atherogenesis via leukotriene C4 export

scientific article published on 27 May 2008

Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue

scientific article published on 8 July 2016

Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy.

scientific article published on 16 April 2013

Myofiber integrity depends on desmin network targeting to Z-disks and costameres via distinct plectin isoforms.

scientific article published on May 2008

N-acetyl cysteine treatment rescues cognitive deficits induced by mitochondrial dysfunction in G72/G30 transgenic mice

scientific article published on 29 June 2011

Neuroimaging characteristics in mitochondrial encephalopathies associated with the m.3243A>G MTTL1 mutation

scientific article

Neuropathological signs of inflammation correlate with mitochondrial DNA deletions in mesial temporal lobe epilepsy

scientific article published on 18 March 2016

Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features

scientific article

On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria.

scientific article published on March 2003

Overexpression of bcl-2 results in reduction of cytochrome c content and inhibition of complex I activity.

scientific article

Oxygen dependence of flux control of cytochrome c oxidase -- implications for mitochondrial diseases

scientific article

Oxyphil cell metaplasia in the parathyroids is characterized by somatic mitochondrial DNA mutations in NADH dehydrogenase genes and cytochrome c oxidase activity-impairing genes

scientific article published in November 2014

POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.

scientific article

Parkinson phenotype in aged PINK1-deficient mice is accompanied by progressive mitochondrial dysfunction in absence of neurodegeneration

scientific article

Primary carnitine deficiency: adult onset lipid storage myopathy with a mild clinical course

scientific article published in November 2004

Proof of progression over time: finally fulminant brain, muscle, and liver affection in Alpers syndrome associated with the A467T POLG1 mutation

scientific article published on 9 September 2008

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Rare exonic deletions of the RBFOX1 gene increase risk of idiopathic generalized epilepsy

scientific article published on 25 January 2013

Re-evaluation of the dysfunction of mitochondrial respiratory chain in skeletal muscle of patients with Parkinson's disease

scientific article published on 3 August 2004

Recombination of human mitochondrial DNA.

scientific article

Recombination of mitochondrial DNA in skeletal muscle of individuals with multiple mitochondrial DNA heteroplasmy

scientific article published on 17 July 2005

Repeats, longevity and the sources of mtDNA deletions: evidence from 'deletional spectra'.

scientific article

Reply to Rutter et al.: The roles of cytosolic and intramitochondrial Ca2+ and the mitochondrial Ca2+-uniporter (MCU) in the stimulation of mammalian oxidative phosphorylation

scientific article published on 01 July 2020

S3/6 A novel potassium channels in mitochondria

Seizure-dependent modulation of mitochondrial oxidative phosphorylation in rat hippocampus

scientific article published in April 2002

Severe epilepsy as the major symptom of new mutations in the mitochondrial tRNA(Phe) gene

scientific article published in February 2010

Signaling pathways targeting mitochondrial potassium channels

scientific article published on 20 June 2020

Single channel studies of the ATP-regulated potassium channel in brain mitochondria

scientific article published in August 2009

Sites of generation of reactive oxygen species in homogenates of brain tissue determined with the use of respiratory substrates and inhibitors.

scientific article published on 24 May 2008

Sonography of the median nerve in CMT1A, CMT2A, CMTX, and HNPP

scientific article published on 04 February 2013

Spectral properties of fluorescent flavoproteins of isolated rat liver mitochondria

scientific journal article

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants

scientific article published on 21 March 2022

Stilbene derivatives inhibit the activity of the inner mitochondrial membrane chloride channels.

scientific article

Subfield-specific loss of hippocampal N-acetyl aspartate in temporal lobe epilepsy

scientific article published on 05 September 2007

Sustained seizure remission on perampanel in progressive myoclonic epilepsy (Lafora disease).

scientific article published on 16 August 2013

The Cytoprotective Action of the Potassium Channel Opener BMS-191095 in C2C12 Myoblasts is Related to the Modulation of Calcium Homeostasis ⬇️

scientific article published on August 24, 2010

The contribution of thioredoxin-2 reductase and glutathione peroxidase to H(2)O(2) detoxification of rat brain mitochondria.

scientific article published on 28 February 2012

The influence of the cytosolic oncotic pressure on the permeability of the mitochondrial outer membrane for ADP: implications for the kinetic properties of mitochondrial creatine kinase and for ADP channelling into the intermembrane space.

scientific article published on April 1994

The mechanism of neuroprotection by topiramate in an animal model of epilepsy.

scientific article

Use of NAD(P)H and flavoprotein fluorescence signals to characterize the redox state of pyridine nucleotides in epididymal bull spermatozoa

scientific article published in February 1991

Use of saponin‐permeabilized muscle fibers for the diagnosis of mitochondrial diseases ⬇️

scientific article published on January 1, 1998

[Diagnostic value of mitochondrial DNA analysis in chronic progressive external ophthalmoplegia (CPEO)]

scientific article published on 01 December 2004

cGMP and cAMP differentially regulate differentiation and function of brown adipocytes.

scientific article published in August 2011

mtDNA depletion and impairment of mitochondrial function in a case of a multisystem disorder including severe myopathy

scientific article published in June 1998

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