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

31 August 2017

title

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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31 August 2017

Wolfgang Sperl

series ordinal

2

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31 August 2017

Johann W Bauer

series ordinal

3

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31 August 2017

publication date

1 September 2014

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31 August 2017

published in

Experimental Dermatology

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31 August 2017

volume

23

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31 August 2017

issue

9

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31 August 2017

page(s)

607-614

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Mitochondria: In Sickness and in Health

31 August 2017

cites work

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Nonsynonymous somatic mitochondrial mutations occur in the majority of cutaneous melanomas

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

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

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RMRP mutations in cartilage-hair hypoplasia.

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

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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.

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Mutations in the holocarboxylase synthetase gene HLCS.

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

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

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Mitochondrial oxidative phosphorylation is impaired in patients with congenital lipodystrophy

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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

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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

1 reference

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

1 reference

RECQL4 localizes to mitochondria and preserves mitochondrial DNA integrity

21 January 2018

1 reference

Minimizing the damage: repair pathways keep mitochondrial DNA intact

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Intrinsic mitochondrial DNA repair defects in Ataxia Telangiectasia.

21 January 2018

1 reference

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

1 reference

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

21 January 2018

1 reference

Mitochondrial respiratory complex I defects in Fanconi anemia.

21 January 2018

1 reference

Telomere dysfunction induces metabolic and mitochondrial compromise.

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

Lessons learned from DNA repair defective syndromes

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

1 reference

Respiratory chain deficiency in a female with Aicardi-Goutières syndrome

21 January 2018

1 reference

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

21 January 2018

1 reference

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

1 reference

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

1 reference

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

21 January 2018

1 reference

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

1 reference

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

21 January 2018

1 reference

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

1 reference

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

1 reference

SAMHD1 knockout mice: modeling retrovirus restriction in vivo.

21 January 2018

1 reference

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

1 reference

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

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31 August 2017

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