- Home
- Publications
- Publication Search
- Publication Details
Title
Mitochondrial dysfunction: a neglected component of skin diseases
Authors
Keywords
-
Journal
EXPERIMENTAL DERMATOLOGY
Volume 23, Issue 9, Pages 607-614
Publisher
Wiley
Online
2014-07-01
DOI
10.1111/exd.12484
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- No evidence for a shift in pyruvate kinase PKM1 to PKM2 expression during tumorigenesis
- (2015) Katharina Bluemlein et al. Oncotarget
- Dysfunctional oxidative phosphorylation makes malignant melanoma cells addicted to glycolysis driven by the V600EBRAF oncogene
- (2015) Arnaldur Hall et al. Oncotarget
- Mitochondrial DNA copy number - but not a mitochondrial tandem CC to TT transition - is increased in sun-exposed skin
- (2014) Daniel Gebhard et al. EXPERIMENTAL DERMATOLOGY
- ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy
- (2013) Tobias B. Haack et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Metabolic control of the epigenome in systemic Lupus erythematosus
- (2013) Zachary Oaks et al. AUTOIMMUNITY
- Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A
- (2013) Silvia Ravera et al. BIOCHIMIE
- Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy
- (2013) T. Klopstock et al. BRAIN
- Epidermolysis bullosa simplex withPLECmutations: new phenotypes and new mutations
- (2013) A. Charlesworth et al. BRITISH JOURNAL OF DERMATOLOGY
- Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia
- (2013) Nilesh K. Sharma et al. DNA REPAIR
- Where Birt–Hogg–Dubé meets Cowden Syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours
- (2013) Laura Maria Pradella et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Mitochondrial dysfunction and nuclear-mitochondrial shuttling of TERT are involved in cell proliferation arrest induced by G-quadruplex ligands
- (2013) Xin-Ying Zhuang et al. FEBS LETTERS
- Mechanisms of Mitochondrial Damage in Keratinocytes by Pemphigus Vulgaris Antibodies
- (2013) Mina Kalantari-Dehaghi et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Functional Cardiac Lipolysis in Mice Critically Depends on Comparative Gene Identification-58
- (2013) Kathrin A. Zierler et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Targeting mitochondrial reactive oxygen species as novel therapy for inflammatory diseases and cancers
- (2013) Xinyuan Li et al. Journal of Hematology & Oncology
- Hypothalamic–Pituitary–Thyroid Axis Hormones Stimulate Mitochondrial Function and Biogenesis in Human Hair Follicles
- (2013) Silvia Vidali et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Identification of mitochondrial dysfunction in Hutchinson–Gilford progeria syndrome through use of stable isotope labeling with amino acids in cell culture
- (2013) José Rivera-Torres et al. Journal of Proteomics
- DcR3 Mutations in Patients with Juvenile-onset Systemic Lupus Erythematosus Lead to Enhanced Lymphocyte Proliferation
- (2013) C. Chokdeemeeboon et al. JOURNAL OF RHEUMATOLOGY
- Mitochondrial CSA and CSB: Protein interactions and protection from ageing associated DNA mutations
- (2013) York Kamenisch et al. MECHANISMS OF AGEING AND DEVELOPMENT
- Mitochondrial deficiency in Cockayne syndrome
- (2013) Morten Scheibye-Knudsen et al. MECHANISMS OF AGEING AND DEVELOPMENT
- The role of CSA and CSB protein in the oxidative stress response
- (2013) Mariarosaria D’Errico et al. MECHANISMS OF AGEING AND DEVELOPMENT
- The Heme a Synthase Cox15 Associates with Cytochrome c Oxidase Assembly Intermediates during Cox1 Maturation
- (2013) B. Bareth et al. MOLECULAR AND CELLULAR BIOLOGY
- Biotinidase knockout mice show cellular energy deficit and altered carbon metabolism gene expression similar to that of nutritional biotin deprivation: Clues for the pathogenesis in the human inherited disorder
- (2013) A. Hernández-Vázquez et al. MOLECULAR GENETICS AND METABOLISM
- Genotype–phenotype spectrum of PYCR1-related autosomal recessive cutis laxa
- (2013) Aikaterini Dimopoulou et al. MOLECULAR GENETICS AND METABOLISM
- Evidence of mitochondrial dysfunction and impaired ROS detoxifying machinery in Fanconi Anemia cells
- (2013) U Kumari et al. ONCOGENE
- The deoxynucleotide triphosphohydrolase SAMHD1 is a major regulator of DNA precursor pools in mammalian cells
- (2013) E. Franzolin et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Samhd1 knockout mice: modeling retrovirus restriction in vivo
- (2013) Li Wu Retrovirology
- Mitochondrial respiratory complex I defects in Fanconi anemia
- (2013) Enrico Cappelli et al. TRENDS IN MOLECULAR MEDICINE
- RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity
- (2012) Deborah L. Croteau et al. AGING CELL
- Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease
- (2012) Alessia Indrieri et al. AMERICAN JOURNAL OF HUMAN GENETICS
- PSORS2 Is Due to Mutations in CARD14
- (2012) Catherine T. Jordan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Role of cellular oxidative stress and cytochrome c in the pathogenesis of psoriasis
- (2012) Sami A. Gabr et al. ARCHIVES OF DERMATOLOGICAL RESEARCH
- A new role for ATM
- (2012) Yasmine A. Valentin-Vega et al. Autophagy
- Mitochondria: In Sickness and in Health
- (2012) Jodi Nunnari et al. CELL
- The Werner syndrome gene product (WRN): a repressor of hypoxia-inducible factor-1 activity
- (2012) Adam Labbé et al. EXPERIMENTAL CELL RESEARCH
- Mitochondrial common deletion mutation and extrinsic skin ageing in German and Japanese women
- (2012) Natsumi Kaneko et al. EXPERIMENTAL DERMATOLOGY
- Sirtuin 4 identification in normal human epidermal keratinocytes and its relation to sirtuin 3 and energy metabolism under normal conditions and UVB-induced stress
- (2012) Kelly Dong et al. EXPERIMENTAL DERMATOLOGY
- The complexity of elastic fibre biogenesis in the skin - a perspective to the clinical heterogeneity of cutis laxa
- (2012) Jouni Uitto et al. EXPERIMENTAL DERMATOLOGY
- Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population
- (2012) Zhengmao Hu et al. HUMAN GENETICS
- A novel splice mutation in the ATP2C1 gene in a woman with concomitant psoriasis vulgaris and disseminated Hailey-Hailey disease
- (2012) Sheau-Chiou Chao et al. INTERNATIONAL JOURNAL OF DERMATOLOGY
- Mitochondrial Oxidative Phosphorylation Is Impaired in Patients with Congenital Lipodystrophy
- (2012) Alison Sleigh et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Thyrotropin-Releasing Hormone Controls Mitochondrial Biology in Human Epidermis
- (2012) Jana Knuever et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Pemphigus autoantibodies generated through somatic mutations target the desmoglein-3 cis-interface
- (2012) Giovanni Di Zenzo et al. JOURNAL OF CLINICAL INVESTIGATION
- Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy
- (2012) Morten Scheibye-Knudsen et al. JOURNAL OF EXPERIMENTAL MEDICINE
- Importance of glycolysis and oxidative phosphorylation in advanced melanoma
- (2012) Jonhan Ho et al. Molecular Cancer
- A High-Throughput Panel for Identifying Clinically Relevant Mutation Profiles in Melanoma
- (2012) K. Dutton-Regester et al. MOLECULAR CANCER THERAPEUTICS
- Reducing Mitochondrial ROS Improves Disease-related Pathology in a Mouse Model of Ataxia-telangiectasia
- (2012) Anthony D D'Souza et al. MOLECULAR THERAPY
- Human mitochondrial DNA: roles of inherited and somatic mutations
- (2012) Eric A. Schon et al. NATURE REVIEWS GENETICS
- Minimizing the damage: repair pathways keep mitochondrial DNA intact
- (2012) Lawrence Kazak et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Human Cockayne syndrome B protein reciprocally communicates with mitochondrial proteins and promotes transcriptional elongation
- (2012) Brian R. Berquist et al. NUCLEIC ACIDS RESEARCH
- TWEAK Affects Keratinocyte G2/M Growth Arrest and Induces Apoptosis through the Translocation of the AIF Protein to the Nucleus
- (2012) Sanaa Sabour Alaoui et al. PLoS One
- Human mitochondrial holocytochromecsynthase’s heme binding, maturation determinants, and complex formation with cytochromec
- (2012) Brian San Francisco et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- BCS1L gene mutation presenting with GRACILE-like syndrome and complex III deficiency
- (2012) A. M. Lynn et al. ANNALS OF CLINICAL BIOCHEMISTRY
- Genetics of Dupuytren's disease
- (2011) Laëtitia Michou et al. JOINT BONE SPINE
- Telomere dysfunction induces metabolic and mitochondrial compromise
- (2011) Ergün Sahin et al. NATURE
- Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2
- (2011) M Fernanda Amary et al. NATURE GENETICS
- ATGL-mediated fat catabolism regulates cardiac mitochondrial function via PPAR-α and PGC-1
- (2011) Guenter Haemmerle et al. NATURE MEDICINE
- Myasthenic syndrome caused by plectinopathy
- (2011) D. Selcen et al. NEUROLOGY
- Human telomerase acts as a hTR-independent reverse transcriptase in mitochondria
- (2011) Nilesh K. Sharma et al. NUCLEIC ACIDS RESEARCH
- Mitochondrial Haplogroups, Control Region Polymorphisms and Malignant Melanoma: A Study in Middle European Caucasians
- (2011) Sabine Ebner et al. PLoS One
- Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures
- (2010) Russell C. Dale et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Human Iron−Sulfur Cluster Assembly, Cellular Iron Homeostasis, and Disease
- (2010) Hong Ye et al. BIOCHEMISTRY
- Mitochondrial dysfunction in some oxidative stress-related genetic diseases: Ataxia-Telangiectasia, Down Syndrome, Fanconi Anaemia and Werner Syndrome
- (2010) Federico V. Pallardó et al. BIOGERONTOLOGY
- Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma
- (2010) Rene' G Feichtinger et al. BMC CANCER
- Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE
- (2010) RA Maselli et al. CLINICAL GENETICS
- Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome
- (2010) KJ Champion et al. CLINICAL GENETICS
- Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations
- (2010) A Maffé et al. CLINICAL GENETICS
- Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway
- (2010) Tjitske Kleefstra et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi–Goutiéres syndrome associated with mtDNA deletions
- (2010) Esther Leshinsky-Silver et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Thyrotropin powers human mitochondria
- (2010) Burkhard Poeggeler et al. FASEB JOURNAL
- Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts
- (2010) Hong Ye et al. JOURNAL OF CLINICAL INVESTIGATION
- Comparison of mitochondrial and nucleolar RNase MRP reveals identical RNA components with distinct enzymatic activities and protein components
- (2010) Q. Lu et al. RNA
- Of proteins and RNA: The RNase P/MRP family
- (2010) O. Esakova et al. RNA
- Aging skin is functionally anaerobic: Importance of coenzyme Q10for anti aging skin care
- (2009) S. Prahl et al. BIOFACTORS
- Lack of complex I is associated with oncocytic thyroid tumours
- (2009) F A Zimmermann et al. BRITISH JOURNAL OF CANCER
- Discovery of Genes Essential for Heme Biosynthesis through Large-Scale Gene Expression Analysis
- (2009) Roland Nilsson et al. Cell Metabolism
- Thyrotropin releasing hormone (TRH): a new player in human hair-growth control
- (2009) Erzsébet Gáspár et al. FASEB JOURNAL
- The genetic and metabolic signature of oncocytic transformation implicates HIF1α destabilization
- (2009) Anna Maria Porcelli et al. HUMAN MOLECULAR GENETICS
- Surf1, Associated with Leigh Syndrome in Humans, Is a Heme-binding Protein in Bacterial Oxidase Biogenesis
- (2009) Freya A. Bundschuh et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Role of Mitochondria in Photoaging of Human Skin: The Defective Powerhouse Model
- (2009) Jean Krutmann et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY SYMPOSIUM PROCEEDINGS
- How mitochondria record the effects of UV exposure and oxidative stress using human skin as a model tissue
- (2009) M. A. Birch-Machin et al. MUTAGENESIS
- Mutations in PYCR1 cause cutis laxa with progeroid features
- (2009) Bruno Reversade et al. NATURE GENETICS
- Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response
- (2009) Gillian I Rice et al. NATURE GENETICS
- Dynamic regulation of mitochondrial function by glucocorticoids
- (2009) J. Du et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Mitochondrial Disorders in the Nervous System
- (2008) Salvatore DiMauro et al. Annual Review of Neuroscience
- Mammalian liver cytochrome c is tyrosine-48 phosphorylated in vivo, inhibiting mitochondrial respiration
- (2008) Hong Yu et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
- Loss of Complex I due to Mitochondrial DNA Mutations in Renal Oncocytoma
- (2008) J. A. Mayr et al. CLINICAL CANCER RESEARCH
- Phenotypic Variants of the Deafness-Associated Mitochondrial DNA A7445G Mutation
- (2008) Anita Maasz et al. CURRENT MEDICINAL CHEMISTRY
- Partial purification and characterization of RNase P from human peripheral lymphocytes
- (2008) Anastassios Vourekas et al. EXPERIMENTAL DERMATOLOGY
- Tumor Necrosis Factor α Inhibits Oxidative Phosphorylation through Tyrosine Phosphorylation at Subunit I of CytochromecOxidase
- (2008) Lobelia Samavati et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Plectin isoform 1b mediates mitochondrion–intermediate filament network linkage and controls organelle shape
- (2008) Lilli Winter et al. JOURNAL OF CELL BIOLOGY
- Thyroid Hormones Directly Alter Human Hair Follicle Functions: Anagen Prolongation and Stimulation of Both Hair Matrix Keratinocyte Proliferation and Hair Pigmentation
- (2008) Nina van Beek et al. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
- Human Female Hair Follicles Are a Direct, Nonclassical Target for Thyroid-Stimulating Hormone
- (2008) Enikö Bodó et al. JOURNAL OF INVESTIGATIVE DERMATOLOGY
- Nonsynonymous somatic mitochondrial mutations occur in the majority of cutaneous melanomas
- (2008) Suhail K. Mithani et al. MELANOMA RESEARCH
- Cerebellar ataxia, myoclonus, cervical lipomas, and MERRF syndrome. Case report
- (2008) Hélio A.G. Teive et al. MOVEMENT DISORDERS
- The M2 splice isoform of pyruvate kinase is important for cancer metabolism and tumour growth
- (2008) Heather R. Christofk et al. NATURE
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started