Toward a therapy for mitochondrial disease.

Abstract:

:Mitochondrial disorders are a group of genetic diseases affecting the energy-converting process of oxidative phosphorylation. The extreme variability of symptoms, organ involvement, and clinical course represent a challenge to the development of effective therapeutic interventions. However, new possibilities have recently been emerging from studies in model organisms and awaiting verification in humans. I will discuss here the most promising experimental approaches and the challenges we face to translate them into the clinics. The current clinical trials will also be briefly reviewed.

journal_name

Biochem Soc Trans

authors

Viscomi C

doi

10.1042/BST20160085

subject

Has Abstract

pub_date

2016-10-15 00:00:00

pages

1483-1490

issue

5

eissn

0300-5127

issn

1470-8752

pii

BST20160085

journal_volume

44

pub_type

杂志文章,评审
  • Inverted-repeat DNA: a new gene-silencing tool for seed lipid modification.

    abstract::Post-transcriptional gene silencing (PTGS) has been successfully used to modify seed lipids in oilseed crops like soybean, canola and sunflower. Conventionally, PTGS has been induced by transforming the plants with either antisense or co-suppression constructs targeted against key seed lipid biosynthesis genes. A majo...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:

    authors: Singh S,Green A,Stoutjesdijk P,Liu Q

    更新日期:2000-12-01 00:00:00

  • Studying biomolecular complexes with pulsed electron-electron double resonance spectroscopy.

    abstract::The function of biomolecules is intrinsically linked to their structure and the complexes they form during function. Techniques for the determination of structures and dynamics of these nanometre assemblies are therefore important for an understanding on the molecular level. PELDOR (pulsed electron-electron double res...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章,评审

    doi:10.1042/BST0390128

    authors: Reginsson GW,Schiemann O

    更新日期:2011-01-01 00:00:00

  • Mass spectrometry approaches for vitamin E research.

    abstract::Vitamin E is an important nutrient with antioxidant and non-antioxidant functions, and certain evidence suggests that it has a cardiovascular protective role. It is therefore important to maintain an optimal vitamin E status. In the present paper, a number of MS applications to monitor vitamin E status and its interac...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:10.1042/BST0361066

    authors: Lodge JK

    更新日期:2008-10-01 00:00:00

  • Organization of endogenous clocks in insects.

    abstract::Insect and mammalian circadian clocks show striking similarities. They utilize homologous clock genes, generating self-sustained circadian oscillations in distinct master clocks of the brain, which then control rhythmic behaviour. The molecular mechanisms of rhythm generation were first uncovered in the fruit fly Dros...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章,评审

    doi:10.1042/BST20050957

    authors: Helfrich-Förster C

    更新日期:2005-11-01 00:00:00

  • Ion translocation by the Escherichia coli NADH:ubiquinone oxidoreductase (complex I).

    abstract::The energy-converting NADH:ubiquinone oxidoreductase, also known as respiratory complex I, couples the transfer of electrons from NADH to ubiquinone with the translocation of ions across the membrane. It was assumed that the complex exclusively works as a proton pump. Recently, it has been proposed that complex I from...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:10.1042/BST0330836

    authors: Friedrich T,Stolpe S,Schneider D,Barquera B,Hellwig P

    更新日期:2005-08-01 00:00:00

  • The ESCRT machinery: new functions in viral and cellular biology.

    abstract::The ESCRT (endosomal sorting complex required for transport) machinery consists of a number of cytosolic proteins that make up three functional subcomplexes: ESCRT-I, ESCRT-II and ESCRT-III. These proteins function in multivesicular body formation and cell division and are co-opted by enveloped retroviruses to facilit...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章,评审

    doi:10.1042/BST0370195

    authors: Carlton JG,Martin-Serrano J

    更新日期:2009-02-01 00:00:00

  • Deciphering non-alcoholic fatty liver disease through metabolomics.

    abstract::Non-alcoholic fatty liver disease (NAFLD) is one of the most common liver disorders in industrialized countries. NAFLD develops in the absence of alcohol abuse and encompasses a wide spectrum of disorders ranging from benign fatty liver to non-alcoholic steatohepatitis (NASH). NASH often leads to fibrosis, cirrhosis a...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章,评审

    doi:10.1042/BST20140138

    authors: Cano A,Alonso C

    更新日期:2014-10-01 00:00:00

  • SLPI and trappin-2 as therapeutic agents to target airway serine proteases in inflammatory lung diseases: current and future directions.

    abstract::It is now clear that NSPs (neutrophil serine proteases), including elastase, Pr3 (proteinase 3) and CatG (cathepsin G) are major pathogenic determinants in chronic inflammatory disorders of the lungs. Two unglycosylated natural protease inhibitors, SLPI (secretory leucocyte protease inhibitor) and elafin, and its prec...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章,评审

    doi:10.1042/BST0391441

    authors: Zani ML,Tanga A,Saidi A,Serrano H,Dallet-Choisy S,Baranger K,Moreau T

    更新日期:2011-10-01 00:00:00

  • Engineering responsive mechanisms to control the assembly of peptide-based nanostructures.

    abstract::Complex biological machines arise from self-assembly on the basis of structural features programmed into sequence-specific macromolecules (i.e. polypeptides and polynucleotides) at the molecular level. As a consequence of the near-absolute control of macromolecular architecture that results from such sequence specific...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章,评审

    doi:10.1042/BST0370653

    authors: Dublin S,Zimenkov Y,Conticello VP

    更新日期:2009-08-01 00:00:00

  • The use of in situ haemoglobin-free perfused liver in metabolic-control analysis.

    abstract::In this study the network of ATP-consuming and -producing reactions, interacting via the cytosolic ATP/ADP+P(i) system, was studied for the first time in an intact organ, the isolated perfused rat liver, using top-down metabolic-control analysis. Flux control in the metabolically resting state (only oxidative phosphor...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:10.1042/bst0280109

    authors: Soboll S,Brown GC

    更新日期:2000-02-01 00:00:00

  • Electrochemical investigation of cellobiose oxidation by cellobiose dehydrogenase in the presence of cytochrome c as mediator.

    abstract::An important aspect of the cytochrome c electrochemistry is the possibility of coupling the 'heterogeneous reactions' with other redox enzymes. Cellobiose dehydrogenase, a 89170 Da glycoprotein that contains both FAD and a b-type haem as prosthetic groups, donates electrons to a number of acceptors, including cytochro...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:10.1042/bst0280063

    authors: Fridman V,Wollenberger U,Bogdanovskaya V,Lisdat F,Ruzgas T,Lindgren A,Gorton L,Scheller FW

    更新日期:2000-02-01 00:00:00

  • Application of a new method for the sensitive detection and quantification of acyl-CoA esters in Arabidopsis thaliana seedlings and mature leaves.

    abstract::We report a novel, highly sensitive and selective method for the detection and quantification of acyl-CoA esters from Arabidopsis thaliana. Extracted acyl-CoA esters were derived to their fluorescent acyl-etheno-CoA esters, separated by ion-paired reversed-phase HPLC, and detected fluorometrically. We report the compo...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:

    authors: Larson TR,Graham IA

    更新日期:2000-12-01 00:00:00

  • Single amino acid exchanges in FAD-binding domains of squalene epoxidase of Saccharomyces cerevisiae lead to either loss of functionality or terbinafine sensitivity.

    abstract::Squalene epoxidase (Erg1p) is an essential enzyme in the ergosterol biosynthesis pathway in yeast. For its enzymatic activity, Erg1p requires molecular oxygen, NAD(P)H and FAD. Amino acid analysis and sequence alignment with other squalene epoxidases revealed two highly conserved FAD-binding domains, FAD I and FAD II....

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:10.1042/BST20051197

    authors: Ruckenstuhl C,Eidenberger A,Lang S,Turnowsky F

    更新日期:2005-11-01 00:00:00

  • Genomic instability and cancer: lessons from analysis of Bloom's syndrome.

    abstract::Bloom's syndrome (BS) is a rare autosomal recessive disorder characterized by genomic instability and cancer predisposition. The underlying genetic defect is mutation of the BLM gene, producing deficiency in the RecQ helicase BLM (Bloom's syndrome protein). The present article begins by introducing BLM and its binding...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:10.1042/BST0370553

    authors: Payne M,Hickson ID

    更新日期:2009-06-01 00:00:00

  • Electrodes modified with lipid membranes to study quinone oxidoreductases.

    abstract::Quinone oxidoreductases are a class of membrane enzymes that catalyse the oxidation or reduction of membrane-bound quinols/quinones. The conversion of quinone/quinol by these enzymes is difficult to study because of the hydrophobic nature of the enzymes and their substrates. We describe some biochemical properties of ...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章,评审

    doi:10.1042/BST0370707

    authors: Weiss SA,Jeuken LJ

    更新日期:2009-08-01 00:00:00

  • Genomic DNA amplification by the multiple displacement amplification (MDA) method.

    abstract::Large amounts of DNA are frequently required for use in detection assays and genomic analysis. The limited availability of DNA can be a critical obstacle to meeting research and clinical needs. DNA amplification methods are often required to generate sufficient material from small specimens or environmental samples wi...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章,评审

    doi:10.1042/BST0370450

    authors: Lasken RS

    更新日期:2009-04-01 00:00:00

  • Circulating levels of the chemokines JE and KC in female C3H apolipoprotein-E-deficient and C57BL apolipoprotein-E-deficient mice as potential markers of atherosclerosis development.

    abstract::We have investigated serum chemokines for their suitability as markers of atherosclerosis development in apoE (apolipoprotein E)-deficient ((-/-)) mice. Female C3H apoE(-/-) and C57BL apoE(-/-) mice were fed on either diet W (Western diet; 6 weeks) or normal rodent diet (12 weeks). Serum lipids (0, 6 and 12 weeks) and...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:10.1042/bst0320128

    authors: Parkin SL,Pritchett JP,Grimsditch DC,Bruckdorfer KR,Sahota PK,Lloyd A,Overend P,Benson GM

    更新日期:2004-02-01 00:00:00

  • Function of the mitochondrial outer membrane as a diffusion barrier in health and diseases.

    abstract::The mitochondrial outer membrane separates the intermembrane space from the cytosol. The whole exchange of metabolites, cations and information between mitochondria and the cell occurs through the outer membrane. Experimental evidence is reviewed supporting the hypothesis of dynamic ADP compartmentation within the int...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章,评审

    doi:10.1042/bst0280164

    authors: Gellerich FN,Trumbeckaite S,Opalka JR,Seppet E,Rasmussen HN,Neuhoff C,Zierz S

    更新日期:2000-02-01 00:00:00

  • A new detector for fully automatic peptide synthesis.

    abstract::A new method of monitoring the rate of reactions in solid-phase peptide synthesis is described. A conductivity detector in the reaction cell (patent applied for) enables the deprotection, washing and subsequent coupling stages to be examined in detail. The half-lives of the reactions can be calculated and hence the op...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:10.1042/bst0181308a

    authors: Fox JE

    更新日期:1990-12-01 00:00:00

  • Plasticity of the alpha4betadelta GABAA receptor.

    abstract::The GABAR [GABA(A) (gamma-aminobutyric acid type A) receptor], which mediates most inhibition in the brain, is regulated homoeostatically to maintain an optimal level of neuronal excitability. In particular, the alpha(4)betadelta subtype of the GABAR plays a pivotal role in this regulation. This receptor, which is exp...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:10.1042/BST0371378

    authors: Shen H,Smith SS

    更新日期:2009-12-01 00:00:00

  • Prospects in NSAID-derived chemoprevention of colorectal cancer.

    abstract::There is strong evidence for an important role for increased COX (cyclo-oxygenase)-2 expression and PG (prostaglandin) E2 production in colorectal tumorigenesis. PGE(2) acts through four E-prostanoid receptors (EP1-4). COX-2 has therefore become a target for the potential chemoprevention and therapy of colorectal canc...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章,评审

    doi:10.1042/BST0330667

    authors: Chell S,Patsos HA,Qualtrough D,H-Zadeh AM,Hicks DJ,Kaidi A,Witherden IR,Williams AC,Paraskeva C

    更新日期:2005-08-01 00:00:00

  • HAUSP/USP7 as an Epstein-Barr virus target.

    abstract::USP7 (also called HAUSP) is a de-ubiquitinating enzyme recently identified as a key regulator of the p53-mdm2 pathway, which stabilizes both p53 and mdm2. We have discovered that the Epstein-Barr nuclear antigen 1 protein of Epstein-Barr virus binds with high affinity to USP7 and disrupts the USP7-p53 interaction. The...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章,评审

    doi:10.1042/BST0320731

    authors: Holowaty MN,Frappier L

    更新日期:2004-11-01 00:00:00

  • Sodium regulation of GAF domain function.

    abstract::Cyclic nucleotide PDEs (phosphodiesterases) regulate cellular levels of cAMP and cGMP by controlling the rate of degradation. Several mammalian PDE isoforms possess N-terminal GAF (found in cGMP PDEs, Anabaena adenylate cyclases and Escherichia coli FhlA; where FhlA is formate hydrogen lyase transcriptional activator)...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章,评审

    doi:10.1042/BST0351032

    authors: Cann MJ

    更新日期:2007-11-01 00:00:00

  • Multifaceted roles of long non-coding RNAs in triple-negative breast cancer: biology and clinical applications.

    abstract::Triple-negative breast cancer (TNBC) is a heterogeneous breast cancer subtype that lacks targeted therapy due to the absence of estrogen, progesterone, and HER2 receptors. Moreover, TNBC was shown to have a poor prognosis, since it involves aggressive phenotypes that confer significant hindrance to therapeutic treatme...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:10.1042/BST20200666

    authors: Rajagopal T,Talluri S,Venkatabalasubramanian S,Dunna NR

    更新日期:2020-12-01 00:00:00

  • Functional heterogeneity in senescence.

    abstract::Senescence is a tumour suppressor mechanism which is cell-intrinsically activated in the context of cellular stress. Senescence can further be propagated to neighbouring cells, a process called secondary senescence induction. Secondary senescence was initially shown as a paracrine response to the secretion of cytokine...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:10.1042/BST20190109

    authors: Kirschner K,Rattanavirotkul N,Quince MF,Chandra T

    更新日期:2020-06-30 00:00:00

  • The nucleolus-like and precursor bodies of mammalian oocytes and embryos and their possible role in post-fertilization centromere remodelling.

    abstract::In nearly all somatic cells, the ribosome biosynthesis is a key activity. The same is true also for mammalian oocytes and early embryos. This activity is intimately linked to the most prominent nuclear organelles - the nucleoli. Interestingly, during a short period around fertilization, the nucleoli in oocytes and emb...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:10.1042/BST20190847

    authors: Fulka H,Rychtarova J,Loi P

    更新日期:2020-04-29 00:00:00

  • Identifying plant cell-surface receptors: combining 'classical' techniques with novel methods.

    abstract::Cell-cell communication during development and reproduction in plants depends largely on a few phytohormones and many diverse classes of polymorphic secreted peptides. The peptide ligands are bound at the cell surface of target cells by their membranous interaction partners representing, in most cases, either receptor...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章,评审

    doi:10.1042/BST20130251

    authors: Uebler S,Dresselhaus T

    更新日期:2014-04-01 00:00:00

  • Molecular mechanisms for regulation of AMPAR trafficking by PICK1.

    abstract::AMPA (alpha-amino-3-hydroxy-5-methylisoxazole-4-propionic acid) receptor trafficking is a fundamental mechanism for regulating synaptic strength, and hence may underlie cellular processes involved in learning and memory. PICK1 (protein that interacts with protein C-kinase) has recently emerged as a key regulator of AM...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:10.1042/BST0340931

    authors: Hanley JG

    更新日期:2006-11-01 00:00:00

  • Role of the phosphoinositide pathway in the light-dependent C4 phosphoenolpyruvate carboxylase phosphorylation cascade in Digitaria sanguinalis protoplasts.

    abstract::Stimulus-response coupling in animal cells frequently involves the hydrolysis of PtdIns(4,5)P(2) which is catalysed by phosphoinositide-specific phospholipase C (PI-PLC). There is an increasing body of evidence for PI-PLC-based signalling in plant cells; however, the physiological role of this system remains poorly do...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章

    doi:

    authors: Coursol S,Pierre JN,Vidal J

    更新日期:2000-12-01 00:00:00

  • Lymphocyte cell motility: the twisting, turning tale of phosphoinositide 3-kinase.

    abstract::The PI3K (phosphoinositide 3-kinase) family of lipid kinases regulate cell motility in diverse organisms and cell types. In mammals, the main PI3K enzyme activated by chemokine receptor signalling is the class IB isoform, p110gamma. Studies of p110gamma-knockout mice have shown an essential function for this isoform i...

    journal_title:Biochemical Society transactions

    pub_type: 杂志文章,评审

    doi:10.1042/BST0351109

    authors: Oak JS,Matheu MP,Parker I,Cahalan MD,Fruman DA

    更新日期:2007-11-01 00:00:00