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Fosslien E. Review: Mitochondrial medicine--cardiomyopathy caused by defective oxidative phosphorylation.
Ann Clin Lab Sci 2003 Fall;33(4):371-95.  

 

 

 

DiMauro S, et al. Mitochondrial respiratory-chain diseases.
N Engl J Med 2003 Jun 26;348(26):2656-68.  

 

 

 



Howell N. 
LHON and other optic nerve atrophies: the mitochondrial connection.
Dev Ophthalmol 2003;37:94-108.  

 

 

 



Burger G, et al. 
Parallels in genome evolution in mitochondria and bacterial symbionts.
IUBMB Life 2003 Apr-May;55(4-5):205-12.  
Clayton DA. Mitochondrial DNA replication: what we know.
IUBMB Life 2003 Apr-May;55(4-5):213-7.  
Gray MW. Diversity and evolution of mitochondrial RNA editing systems.
IUBMB Life 2003 Apr-May;55(4-5):227-33.; Review  

 

 

 

Mol Phylogenet Evol 2003

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Phillips MJ, et al. 
The root of the mammalian tree inferred from whole mitochondrial genomes.
Mol Phylogenet Evol 2003 Aug;28(2):171-85.  

 

 

 


Paschen SA, et al. 
Protein import into mitochondria.
IUBMB Life 2001 Sep-Nov;52(3-5):101-12.;   

Blachly-Dyson E, et al. 
VDAC channels.
IUBMB Life 2001 Sep-Nov;52(3-5):113-8.;   

Schagger H. 
Respiratory chain supercomplexes.
IUBMB Life 2001 Sep-Nov;52(3-5):119-28.;   

Vinogradov AD, et al. 
The mitochondrial Complex I: progress in understanding of catalytic properties.
IUBMB Life 2001 Sep-Nov;52(3-5):129-34.;   

Greenamyre JT, et al. 
Complex I and Parkinson's disease.
IUBMB Life 2001 Sep-Nov;52(3-5):135-41.;   

Beauvoit B, et al. 
Regulation of cytochrome c oxidase by adenylic nucleotides. Is oxidative phosphorylation feedback regulated by its end-products?
IUBMB Life 2001 Sep-Nov;52(3-5):143-52.;   

Garlid KD, et al. 
The mitochondrial potassium cycle.
IUBMB Life 2001 Sep-Nov;52(3-5):153-8.;   

Lenaz G. 
The mitochondrial production of reactive oxygen species: mechanisms and implications in human pathology.
IUBMB Life 2001 Sep-Nov;52(3-5):159-64.;   

Arechaga I, et al. 
The mitochondrial uncoupling protein UCP1: a gated pore.
IUBMB Life 2001 Sep-Nov;52(3-5):165-73.;   

Klingenberg M. 
Uncoupling proteins--how do they work and how are they regulated.
IUBMB Life 2001 Sep-Nov;52(3-5):175-9.;   

Casteilla L, et al. 
Mitochondrial ROS metabolism: modulation by uncoupling proteins.
IUBMB Life 2001 Sep-Nov;52(3-5):181-8.;   

Brown GC, et al. 
Nitric oxide, mitochondria, and cell death.
IUBMB Life 2001 Sep-Nov;52(3-5):189-95.;   

Gunter TE, et al. 
Uptake of calcium by mitochondria: transport and possible function.
IUBMB Life 2001 Sep-Nov;52(3-5):197-204.;   

Pfeiffer DR, et al. 
Release of Ca2+ from mitochondria via the saturable mechanisms and the permeability transition.
IUBMB Life 2001 Sep-Nov;52(3-5):205-12.;   

Vandecasteele G, et al. 
Mitochondrial calcium homeostasis: mechanisms and molecules.
IUBMB Life 2001 Sep-Nov;52(3-5):213-9.;   

Leverve XM, et al. 
Role of substrates in the regulation of mitochondrial function in situ.
IUBMB Life 2001 Sep-Nov;52(3-5):221-9.;   

Gross A. 
BCL-2 proteins: regulators of the mitochondrial apoptotic program.
IUBMB Life 2001 Sep-Nov;52(3-5):231-6.;   

Hajnoczky G, et al. 
Spatio-temporal organization of the mitochondrial phase of apoptosis.
IUBMB Life 2001 Sep-Nov;52(3-5):237-45.;   

Wieloch T. 
Mitochondrial involvement in acute neurodegeneration.
IUBMB Life 2001 Sep-Nov;52(3-5):247-54.;   

Di Lisa F. 
Mitochondrial contribution in the progression of cardiac ischemic injury.
IUBMB Life 2001 Sep-Nov;52(3-5):255-61.;   

Mannella CA, et al. 
Topology of the mitochondrial inner membrane: dynamics and bioenergetic implications.
IUBMB Life 2001 Sep-Nov;52(3-5):93-100.;   

 

 



Hirano M. 
Introduction for: 'mitochondrial diseases'
Semin Cell Dev Biol 2001 Dec;12(6):395.  

DiMauro S. 
Lessons from mitochondrial DNA mutations.
Semin Cell Dev Biol 2001 Dec;12(6):397-405.  

Zeviani M. 
The expanding spectrum of nuclear gene mutations in mitochondrial disorders.
Semin Cell Dev Biol 2001 Dec;12(6):407-416.  

Hirano M, et al. 
Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNA.
Semin Cell Dev Biol 2001 Dec;12(6):417-427.  

Tanji K, et al. 
Neuropathological features of mitochondrial disorders.
Semin Cell Dev Biol 2001 Dec;12(6):429-439.  

Schon EA, et al. 
Pathogenesis of primary defects in mitochondrial ATP synthesis.
Semin Cell Dev Biol 2001 Dec;12(6):441-448.  

Kirkinezos IG, et al. Reactive oxygen species and mitochondrial diseases.
Semin Cell Dev Biol 2001 Dec;12(6):449-457.  

Nakada K, et al. 
Mito-mice: animal models for mitochondrial DNA-based diseases.
Semin Cell Dev Biol 2001 Dec;12(6):459-465.  

 

 

Semin Neurol 2001
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Shoffner JM. An introduction: oxidative phosphorylation diseases.
Semin Neurol 2001;21(3):237-50.; 

DiMauro S, et al. Diseases of Oxidative Phosphorylation Due to mtDNA Mutations.
Semin Neurol 2001;21(3):251-60.;
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Shoubridge EA. Nuclear gene defects in respiratory chain disorders.
Semin Neurol 2001;21(3):261-8.;

Robinson BH. Prenatal diagnosis of disorders of energy metabolism.
Semin Neurol 2001;21(3):269-74.; 
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Biousse V, et al. Neuro-ophthalmology of mitochondrial diseases.
Semin Neurol 2001;21(3):275-92.; 

Sladky JT. Histopathological features of peripheral nerve and muscle in mitochondrial disease.
Semin Neurol 2001;21(3):293-302.; 
Seitenanfang

Dougherty FE. Metabolic testing in mitochondrial disease.
Semin Neurol 2001;21(3):303-8.; 

Gold DR, et al. Treatment of mitochondrial cytopathies.
Semin Neurol 2001;21(3):309-26.; 
Seitenanfang

Zullo SJ. Gene therapy of mitochondrial dna mutations: a brief, biased history of allotopic expression in mammalian cells.
Semin Neurol 2001;21(3):327-36.; 

Krawiecki N. Ethical issues surrounding the evaluation of oxidative phosphorylation disorders in children.
Semin Neurol 2001;21(3):337-42.; 

 

 

 

Am J Med Genet 2001
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Dahl HH, et al. Mitochondrial diseases: Beyond the magic circle.
Am J Med Genet 2001 Spring;106(1):1-3.; 

Munnich A, et al. Clinical spectrum and diagnosis of mitochondrial disorders.
Am J Med Genet 2001 Spring;106(1):4-17.; 
Seitenanfang

DiMauro S, et al. Mitochondrial DNA mutations in human disease.
Am J Med Genet 2001 Spring;106(1):18-26.; 

Orth M, et al. Mitochondria and degenerative disorders.
Am J Med Genet 2001 Spring;106(1):27-36.; 
Seitenanfang

Triepels RH, et al. Respiratory chain complex I deficiency.
Am J Med Genet 2001 Spring;106(1):37-45.; 

Shoubridge EA. Cytochrome c oxidase deficiency.
Am J Med Genet 2001 Spring;106(1):46-52.; 
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Suomalainen A, et al. Diseases caused by nuclear genes affecting mtDNA stability.
Am J Med Genet 2001 Spring;106(1):53-61.; 

Raha S, et al. Mitochondria, oxygen free radicals, and apoptosis.
Am J Med Genet 2001 Spring;106(1):62-70.; 
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Wallace DC. Mouse models for mitochondrial disease.
Am J Med Genet 2001 Spring;106(1):71-93.; 

Chinnery PF, et al. Epidemiology and treatment of mitochondrial disorders.
Am J Med Genet 2001 Spring;106(1):94-101.; 
Seitenanfang

Thorburn DR, et al. Mitochondrial disorders: genetics, counseling, prenatal diagnosis and reproductive options.
Am J Med Genet 2001 Spring;106(1):102-14.; 

Delgado-Escueta AV, et al. Advances in the genetics of progressive myoclonus epilepsy.
Am J Med Genet 2001 Feb;106(2):129-38.; 

 

 

 
Deutsches Ärzteblatt 1999
Seitenanfang

Mitochondriale Erkrankungen: Biochemisch-molekularbiologische Diagnostik von Defekten der Atmungskette

Jaksch-Angerer, Dr. med. Michaela; Hofmann, Dr. rer. nat. Sabine; Bauer, Dr. med. Matthias Friedrich; Gempel, Dr. med. Klaus; Obermaier-Kusser, Dr. med. Bert; Paetzke, Dr. rer. nat. Ingrid; Gerbitz, Prof. Dr. med. Klaus-Dieter

Deutsches Ärzteblatt 96, Heft 46 vom 19.11.99, Seite A-2972 [MEDIZIN: Aktuell]
Diagnosestellung; Genmutation; Familienanamnese; Genanalyse; Molekularbiologie; Mitochondriale Erkrankung; Atmungskettendefekt

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Mitochondriale Erkrankungen

Gerbitz, Prof. Dr. med. Klaus-Dieter; Gempel, Klaus; Bauer, Matthias F.

Deutsches Ärzteblatt 96, Heft 47 vom 26.11.99, Seite A-3035 [MEDIZIN: Aktuell]
Neugeborenenscreening; Diagnosestellung; Kongenitale Fehlbildung; Molekularbiologie; Mitochondriale Erkrankung; Fettsäureoxidationsstörung; Tandem-Massenspektrometrie

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Science 1999
Seitenanfang

Nishino I, et al. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.
Science 1999 Jan 29;283(5402):689-92

Eto K, et al. Role of NADH shuttle system in glucose-induced activation of mitochondrial metabolism and insulin secretion [In Process Citation]
Science 1999 Feb 12;283(5404):981-5
Seitenanfang
Gray MW, et al. Mitochondrial Evolution.
Science 1999 Mar 5;283(5407):1476-1481

Wallace DC. Mitochondrial diseases in man and mouse.
Science 1999 Mar 5;283(5407):1482-8; Review
Seitenanfang
Saraste M. Oxidative Phosphorylation at the fin de siecle.
Science 1999 Mar 5;283(5407):1488-1493

Yaffe MP. The Machinery of Mitochondrial Inheritance and Behavior.
Science 1999 Mar 5;283(5407):1493-1497
Seitenanfang
Hederstedt L. Respiration without O2 [comment]
Science 1999 Jun 18;284(5422):1941-2

Merriweather DA, et al. Mitochondrial recombination? (continued) [letter]
Science 1999 Aug 6;285(5429):837
Seitenanfang
Pennisi E. Aging research. Do mitochondrial mutations dim the fire of life? [news; comment]
Science 1999 Oct 22;286(5440):664

Michikawa Y, et al. Aging-Dependent Large Accumulation of Point Mutations in the Human mtDNA Control Region for Replication.
Science 1999 Oct 22;286(5440):774-779
Seitenanfang
Stock D, et al. Molecular Architecture of the Rotary Motor in ATP Synthase.
Science 1999 Nov 26;286(5445):1700-1705

Sambongi Y, et al. Mechanical Rotation of the c Subunit Oligomer in ATP Synthase (F(0)F(1)): Direct Observation.
Science 1999 Nov 26;286(5445):1722-1724
Seitenanfang
Strauss E. Human genetics. mtDNA shows signs of paternal influence [news; comment]
Science 1999 Dec 24;286(5449):2436

Awadalla P, et al. Linkage disequilibrium and recombination in hominid mitochondrial DNA [In Process Citation]
Science 1999 Dec 24;286(5449):2524-5

 

 

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