Filtros de búsqueda

Lista de obras de Wolfram S. Kunz

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

artículo científico publicado en 2012

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

artículo científico publicado en 2014

A novel potassium channel in skeletal muscle mitochondria.

artículo científico publicado en 2008

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

artículo científico publicado en 1999

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

artículo científico publicado en 2006

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

artículo científico publicado en 2008

Antidiabetic sulphonylureas activate mitochondrial permeability transition in rat skeletal muscle.

artículo científico publicado en 2005

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

artículo científico publicado en 1997

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

artículo científico publicado en 2008

BK channel openers inhibit ROS production of isolated rat brain mitochondria

artículo científico publicado en 2008

Behavioral changes in G72/G30 transgenic mice.

artículo científico publicado en 2009

Biallelic Mutations of VAC14 in Pediatric-Onset Neurological Disease

artículo científico publicado en 2016

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

artículo científico publicado en 2006

Blood-brain barrier dysfunction can contribute to pharmacoresistance of seizures

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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.

artículo científico publicado en 2009

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

artículo científico publicado en 2011

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

artículo científico publicado en 2009

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

artículo científico publicado en 2005

Characterization of superoxide-producing sites in isolated brain mitochondria

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

artículo científico publicado en 2003

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

artículo científico publicado en 2008

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

artículo científico publicado en 2010

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

artículo científico publicado en 2008

Control of reversible intracellular transfer of reducing potential ⬇️

artículo científico publicado el 1 de enero de 1991

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

artículo científico publicado en 2003

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

artículo científico publicado en 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

artículo científico publicado en 2020

Detection of mitochondrial defects by laser fluorimetry.

artículo científico publicado en 1997

Diagnostic value of mitochondrial DNA mutation analysis in juvenile unilateral ptosis

artículo científico publicado en 2004

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

artículo científico publicado en 2002

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

artículo científico publicado en 2003

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

artículo científico publicado en 2010

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

artículo científico publicado en 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?

artículo científico publicado en 2015

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

artículo científico publicado en 2009

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

artículo científico publicado en 2000

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

artículo científico publicado en 1983

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

artículo científico publicado en 2004

Effect of creatine supplementation on metabolite levels in ALS motor cortices

artículo científico publicado en 2001

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

artículo científico publicado en 1985

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

artículo científico publicado en 1983

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

artículo científico publicado en 2013

Epileptic focus and alteration of metabolism

artículo científico publicado en 2014

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

artículo científico publicado en 1990

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

artículo científico publicado en 2016

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

artículo científico publicado en 1992

Exon-disrupting deletions of NRXN1 in idiopathic generalized epilepsy

artículo científico publicado en 2013

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

artículo científico publicado en 2014

Extending the phenotypic spectrum of RBFOX1 deletions: Sporadic focal epilepsy

artículo científico publicado en 2015

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

artículo científico publicado en 2012

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

artículo científico publicado en 1993

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

artículo científico publicado en 2012

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

artículo científico publicado en 2012

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

artículo científico publicado en 1992

Guide to the Pharmacology of Mitochondrial Potassium Channels.

artículo científico publicado en 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

artículo científico publicado en 2014

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

artículo científico publicado en 2003

Homozygous mutation in TXNRD1 is associated with genetic generalized epilepsy

artículo científico publicado en 2017

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

artículo científico publicado en 1998

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

artículo científico publicado en 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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico publicado en 2022

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

artículo científico publicado en 1995

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

artículo científico publicado en 2018

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

artículo científico publicado en 2014

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

artículo científico publicado en 2014

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

artículo científico publicado en 2015

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

artículo científico publicado en 2013

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

artículo científico publicado en 1994

Mesial temporal lobe epilepsy associated with KCNT1 mutation

artículo científico publicado en 2017

Metabolic Epilepsies-Commemorative Issue in Honor of Professor Uwe Heinemann

artículo científico publicado en 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

artículo científico publicado en 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

artículo científico publicado en 2018

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

artículo científico publicado en 2006

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

artículo científico publicado en 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

artículo científico

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

artículo científico publicado en 2010

Mitochondrial dysfunction in epilepsy.

artículo científico publicado en 2011

Mitochondrial dysfunction in myofibrillar myopathy

artículo científico publicado en 2003

Mitochondrial dysfunction in neurodegenerative disorders.

artículo científico publicado en 2007

Mitochondrial dysfunction in neurological disorders with epileptic phenotypes.

artículo científico publicado en 2010

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

artículo científico publicado en 2006

Mitochondrial involvement in neurodegenerative diseases ⬇️

artículo científico publicado el 22 de enero de 2013

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

artículo científico publicado en 1993

Mitochondrial potassium channels and reactive oxygen species.

artículo científico publicado en 2010

Mitochondrial potassium channels.

scientific article published on February 2009

Mitochondrial potassium channels: from pharmacology to function

artículo científico publicado en 2006

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.

artículo científico publicado en 2012

Mosaic Deficiency in Mitochondrial Oxidative Metabolism Promotes Cardiac Arrhythmia during Aging

artículo científico publicado en 2015

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

artículo científico publicado en 2008

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

artículo científico publicado en 2016

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

artículo científico publicado en 2013

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

artículo científico publicado en 2008

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

artículo científico

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

artículo científico publicado en 2012

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

artículo científico publicado en 2016

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

artículo científico publicado en 2011

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

artículo científico publicado en 2003

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

artículo científico publicado en 2001

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

artículo científico publicado en 1998

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

artículo científico publicado en 2014

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

artículo científico publicado en 2010

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

artículo científico publicado en 2009

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

artículo científico publicado en 2004

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

artículo científico publicado en 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 ⬇️

artículo científico publicado el 25 de enero de 2013

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

artículo científico publicado en 2004

Recombination of human mitochondrial DNA.

artículo científico publicado en 2004

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

artículo científico publicado en 2005

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

artículo científico publicado en 2010

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

artículo científico publicado en 2002

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

artículo científico publicado en 2010

Signaling pathways targeting mitochondrial potassium channels

artículo científico publicado en 2020

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

artículo científico publicado en 2009

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

artículo científico publicado en 2008

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

artículo científico publicado en 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.

artículo científico publicado en 2007

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).

artículo científico publicado en 2013

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

artículo científico publicado el 24 de agosto de 2010

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

artículo científico publicado en 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.

artículo científico publicado en 1994

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

artículo científico publicado en 2004

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

artículo científico publicado en 1991

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

artículo científico publicado el 1 de enero de 1998

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

artículo científico publicado en 2004

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

artículo científico publicado en 2011

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

artículo científico publicado en 1998

Dominio Público Uruguay está sostenido por:

Acerca de Dominio Público Uruguay

Ayuda