Mitochondrial dysfunction: a neglected component of skin diseases (Q38224847)

31 August 2017

Mitochondrial dysfunction: a neglected component of skin diseases (English)

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31 August 2017

4

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31 August 2017

René G Feichtinger

1

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PubMed ID

24980550

31 August 2017

Wolfgang Sperl

series ordinal

2

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PubMed ID

24980550

31 August 2017

Johann W Bauer

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3

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31 August 2017

1 September 2014

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31 August 2017

Experimental Dermatology

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31 August 2017

23

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31 August 2017

9

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31 August 2017

607-614

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Mitochondria: in sickness and in health

31 August 2017

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The oxidative phosphorylation system in mammalian mitochondria

21 January 2018

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Mitochondrial DNA variation in human evolution and disease

21 January 2018

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Mitochondrial metabolism as a regulator of keratinocyte differentiation

21 January 2018

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Identification of novel pigmentation modulators by chemical genetic screening

21 January 2018

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Targeting mitochondrial reactive oxygen species as novel therapy for inflammatory diseases and cancers

21 January 2018

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Molecular mechanisms of skin aging: state of the art.

21 January 2018

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Sirtuin 4 identification in normal human epidermal keratinocytes and its relation to sirtuin 3 and energy metabolism under normal conditions and UVB-induced stress

21 January 2018

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How mitochondria record the effects of UV exposure and oxidative stress using human skin as a model tissue

21 January 2018

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Mitochondrial DNA copy number - but not a mitochondrial tandem CC to TT transition - is increased in sun-exposed skin.

21 January 2018

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Aging: a theory based on free radical and radiation chemistry

21 January 2018

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Role of mitochondria in photoaging of human skin: the defective powerhouse model

21 January 2018

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Nail-patella syndrome associated with respiratory chain disorder

21 January 2018

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The Kearns-Shy syndrome. A multisystem disease with mitochondrial abnormality demonstrated in skeletal muscle and skin.

21 January 2018

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Surf1, associated with Leigh syndrome in humans, is a heme-binding protein in bacterial oxidase biogenesis

21 January 2018

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A7445G mtDNA mutation present in a Portuguese family exhibiting hereditary deafness and palmoplantar keratoderma.

21 January 2018

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Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation

21 January 2018

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Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome.

21 January 2018

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The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression.

21 January 2018

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Evaluation of a mitochondrial DNA mutation in maternally inherited and sporadic cases of Dupuytren disease

21 January 2018

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Mitochondrial mutations in cancer

21 January 2018

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Mitochondrial DNA damage in non-melanoma skin cancer

21 January 2018

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Facile detection of mitochondrial DNA mutations in tumors and bodily fluids

21 January 2018

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The mitochondrial DNA common deletion is present in most basal and squamous cell carcinoma samples isolated by laser capture microdissection but generally at reduced rather than increased levels.

21 January 2018

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Nonsynonymous somatic mitochondrial mutations occur in the majority of cutaneous melanomas

21 January 2018

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The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization

21 January 2018

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Frequency and phenotypic implications of mitochondrial DNA mutations in human squamous cell cancers of the head and neck

21 January 2018

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Human mitochondrial DNA: roles of inherited and somatic mutations

21 January 2018

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Mitochondrial haplogroups, control region polymorphisms and malignant melanoma: a study in middle European Caucasians

21 January 2018

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Mitochondrial dysfunction and organic aciduria in five patients carrying mutations in the Ras-MAPK pathway.

21 January 2018

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Signal transduction to mitochondrial ATP synthase: evidence that PDGF-dependent phosphorylation of the delta-subunit occurs in several cell lines, involves tyrosine, and is modulated by lysophosphatidic acid

21 January 2018

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cAMP-dependent tyrosine phosphorylation of subunit I inhibits cytochrome c oxidase activity

21 January 2018

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Isolation of regulatory-competent, phosphorylated cytochrome C oxidase.

21 January 2018

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Tumor necrosis factor alpha inhibits oxidative phosphorylation through tyrosine phosphorylation at subunit I of cytochrome c oxidase

21 January 2018

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Mammalian liver cytochrome c is tyrosine-48 phosphorylated in vivo, inhibiting mitochondrial respiration

21 January 2018

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RMRP mutations in cartilage-hair hypoplasia.

21 January 2018

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Of proteins and RNA: the RNase P/MRP family

21 January 2018

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Comparison of mitochondrial and nucleolar RNase MRP reveals identical RNA components with distinct enzymatic activities and protein components

21 January 2018

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Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease

21 January 2018

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Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome

21 January 2018

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Construction of a deep-rough mutant of Burkholderia cepacia ATCC 25416 and characterization of its chemical and biological properties

21 January 2018

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The heme synthesis defect of mutants impaired in mitochondrial iron-sulfur protein biogenesis is caused by reversible inhibition of ferrochelatase.

21 January 2018

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The heme a synthase Cox15 associates with cytochrome c oxidase assembly intermediates during Cox1 maturation

21 January 2018

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Discovery of genes essential for heme biosynthesis through large-scale gene expression analysis.

21 January 2018

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Abcb7, the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis

21 January 2018

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Deficiency of glutaredoxin 5 reveals Fe-S clusters are required for vertebrate haem synthesis

21 January 2018

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Human iron-sulfur cluster assembly, cellular iron homeostasis, and disease

21 January 2018

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The cutaneous porphyrias: a review. The British Photodermatology Group

21 January 2018

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Human mitochondrial holocytochrome c synthase's heme binding, maturation determinants, and complex formation with cytochrome c

21 January 2018

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Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic, and molecular characterization of 11 cases.

21 January 2018

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Mutations in BTD causing biotinidase deficiency

21 January 2018

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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.

21 January 2018

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Mutations in the holocarboxylase synthetase gene HLCS.

21 January 2018

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ATGL-mediated fat catabolism regulates cardiac mitochondrial function via PPAR-α and PGC-1.

21 January 2018

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Functional cardiac lipolysis in mice critically depends on comparative gene identification-58.

21 January 2018

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Mitochondrial oxidative phosphorylation is impaired in patients with congenital lipodystrophy

21 January 2018

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Impaired expression of mitochondrial and adipogenic genes in adipose tissue from a patient with acquired partial lipodystrophy (Barraquer-Simons syndrome): a case report

21 January 2018

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A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency

21 January 2018

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Plectin isoform 1b mediates mitochondrion-intermediate filament network linkage and controls organelle shape

21 January 2018

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Congenital myasthenic syndrome associated with epidermolysis bullosa caused by homozygous mutations in PLEC1 and CHRNE.

21 January 2018

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Disorganization of the desmin cytoskeleton and mitochondrial dysfunction in plectin-related epidermolysis bullosa simplex with muscular dystrophy.

21 January 2018

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The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

21 January 2018

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Identification of mitochondrial dysfunction in Hutchinson-Gilford progeria syndrome through use of stable isotope labeling with amino acids in cell culture

21 January 2018

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Mutations in PYCR1 cause cutis laxa with progeroid features

21 January 2018

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The complexity of elastic fibre biogenesis in the skin--a perspective to the clinical heterogeneity of cutis laxa

21 January 2018

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A maternally transmitted lethal neonatal progeroid syndrome with prominent genitourinary and gastrointestinal features

21 January 2018

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Mitochondrial disorders in the nervous system

21 January 2018

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Cockayne syndrome group B cellular and biochemical functions

21 January 2018

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Cockayne syndrome: Review of 140 cases

21 January 2018

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Mitochondrial deficiency in Cockayne syndrome

21 January 2018

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Human Cockayne syndrome B protein reciprocally communicates with mitochondrial proteins and promotes transcriptional elongation

21 January 2018

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The role of CSA and CSB protein in the oxidative stress response.

21 January 2018

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Mitochondrial CSA and CSB: protein interactions and protection from ageing associated DNA mutations

21 January 2018

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Cockayne syndrome group B protein prevents the accumulation of damaged mitochondria by promoting mitochondrial autophagy.

21 January 2018

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RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity

21 January 2018

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Minimizing the damage: repair pathways keep mitochondrial DNA intact

21 January 2018

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Respiratory chain complex I is a mitochondrial tumor suppressor of oncocytic tumors

21 January 2018

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Reducing mitochondrial ROS improves disease-related pathology in a mouse model of ataxia-telangiectasia

21 January 2018

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Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia.

21 January 2018

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A new role for ATM: regulating mitochondrial function and mitophagy

21 January 2018

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Mitochondrial dysfunction in some oxidative stress-related genetic diseases: Ataxia-Telangiectasia, Down Syndrome, Fanconi Anaemia and Werner Syndrome

21 January 2018

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Mitochondrial respiratory chain Complex I defects in Fanconi anemia complementation group A.

21 January 2018

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Mitochondrial respiratory complex I defects in Fanconi anemia.

21 January 2018

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Telomere dysfunction induces metabolic and mitochondrial compromise.

21 January 2018

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Human telomerase acts as a hTR-independent reverse transcriptase in mitochondria

21 January 2018

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Mitochondrial dysfunction and nuclear-mitochondrial shuttling of TERT are involved in cell proliferation arrest induced by G-quadruplex ligands

21 January 2018

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Skin cancer in organ transplant recipients: Epidemiology, pathogenesis, and management

21 January 2018

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Lessons learned from DNA repair defective syndromes

21 January 2018

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Mutations involved in Aicardi-Goutières syndrome implicate SAMHD1 as regulator of the innate immune response

21 January 2018

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The deoxynucleotide triphosphohydrolase SAMHD1 is a major regulator of DNA precursor pools in mammalian cells.

21 January 2018

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Familial Aicardi-Goutières syndrome due toSAMHD1mutations is associated with chronic arthropathy and contractures

21 January 2018

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A large homozygous deletion in the SAMHD1 gene causes atypical Aicardi-Goutiéres syndrome associated with mtDNA deletions

21 January 2018

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Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

21 January 2018

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DcR3 mutations in patients with juvenile-onset systemic lupus erythematosus lead to enhanced lymphocyte proliferation.

21 January 2018

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Metabolic control of the epigenome in systemic Lupus erythematosus

21 January 2018

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Mitochondrial dysfunction in T cells of patients with systemic lupus erythematosus

21 January 2018

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Mutation of DNASE1 in people with systemic lupus erythematosus

21 January 2018

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Pemphigus autoantibodies generated through somatic mutations target the desmoglein-3 cis-interface.

21 January 2018

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Mechanisms of mitochondrial damage in keratinocytes by pemphigus vulgaris antibodies

21 January 2018

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Importance of glycolysis and oxidative phosphorylation in advanced melanoma

21 January 2018

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Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma

21 January 2018

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Loss of complex I due to mitochondrial DNA mutations in renal oncocytoma

21 January 2018

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Dysfunctional oxidative phosphorylation makes malignant melanoma cells addicted to glycolysis driven by the (V600E)BRAF oncogene.

21 January 2018

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No evidence for a shift in pyruvate kinase PKM1 to PKM2 expression during tumorigenesis

21 January 2018

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The M2 splice isoform of pyruvate kinase is important for cancer metabolism and tumour growth

21 January 2018

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Downregulation of NDUFA1 and other oxidative phosphorylation-related genes is a consistent feature of basal cell carcinoma.

21 January 2018

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Where Birt-Hogg-Dubé meets Cowden syndrome: mirrored genetic defects in two cases of syndromic oncocytic tumours

21 January 2018

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Lack of complex I is associated with oncocytic thyroid tumours

21 January 2018

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Dynamic regulation of mitochondrial function by glucocorticoids

21 January 2018

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Glucocorticoid receptors modulate mitochondrial function: A novel mechanism for neuroprotection

21 January 2018

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Regulation of mitochondrial gene expression by retinoids.

21 January 2018

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Human female hair follicles are a direct, nonclassical target for thyroid-stimulating hormone.

21 January 2018

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Thyroid hormones directly alter human hair follicle functions: anagen prolongation and stimulation of both hair matrix keratinocyte proliferation and hair pigmentation

21 January 2018

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Hypothalamic-pituitary-thyroid axis hormones stimulate mitochondrial function and biogenesis in human hair follicles.

21 January 2018

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Persistence of the treatment effect of idebenone in Leber's hereditary optic neuropathy

21 January 2018

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Aging skin is functionally anaerobic: importance of coenzyme Q10 for anti aging skin care

21 January 2018

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Creatine supplementation normalizes mutagenesis of mitochondrial DNA as well as functional consequences

21 January 2018

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ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

21 January 2018

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Mitochondrial tRNA 3' end metabolism and human disease.

21 January 2018

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Partial purification and characterization of RNase P from human peripheral lymphocytes

21 January 2018

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Hepatitis C- and HIV-induced porphyria cutanea tarda

21 January 2018

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Glutaredoxin 5 deficiency causes sideroblastic anemia by specifically impairing heme biosynthesis and depleting cytosolic iron in human erythroblasts

21 January 2018

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Cardiofaciocutaneous (CFC) syndrome associated with muscular coenzyme Q10 deficiency

21 January 2018

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Germline mutation in BRAF codon 600 is compatible with human development: de novo p.V600G mutation identified in a patient with CFC syndrome

21 January 2018

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Brain lactic alkalosis in Aicardi-Goutières syndrome.

21 January 2018

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SAMHD1 knockout mice: modeling retrovirus restriction in vivo.

21 January 2018

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Myopathy, myasthenic syndrome, and epidermolysis bullosa simplex due to plectin deficiency

21 January 2018

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Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations

21 January 2018

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Myasthenic syndrome caused by plectinopathy

21 January 2018

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Loss-of-function mutations in filaggrin gene associate with psoriasis vulgaris in Chinese population.

21 January 2018

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PSORS2 is due to mutations in CARD14.

21 January 2018

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TWEAK affects keratinocyte G2/M growth arrest and induces apoptosis through the translocation of the AIF protein to the nucleus

21 January 2018

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A novel MGST2 non-synonymous mutation in a Chinese pedigree with psoriasis vulgaris

21 January 2018

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A high-throughput panel for identifying clinically relevant mutation profiles in melanoma

21 January 2018

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Multiple lipomas, angiolipomas, and parathyroid adenomas in a patient with Birt-Hogg-Dube syndrome

21 January 2018

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BHD mutations, clinical and molecular genetic investigations of Birt-Hogg-Dubé syndrome: a new series of 50 families and a review of published reports

21 January 2018

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Ollier disease and Maffucci syndrome are caused by somatic mosaic mutations of IDH1 and IDH2.

21 January 2018

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Novel mitochondrial DNA mutations implicated in Noonan syndrome

21 January 2018

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Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations

21 January 2018

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Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/EXD.12484

1 reference

31 August 2017

1 reference

PubMed ID

24980550