Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy

[1]  S. Dimauro,et al.  Deletions of mitochondrial DNA in Kearns‐Sayre syndrome , 1988, Neurology.

[2]  S. Dimauro,et al.  Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. , 1989, The New England journal of medicine.

[3]  E. Holme,et al.  Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome , 1990, Pediatric Research.

[4]  F. Ledeist,et al.  Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy. , 1990, The Journal of clinical investigation.

[5]  G. Hofhaus,et al.  Lack of assembly of mitochondrial DNA‐encoded subunits of respiratory NADH dehydrogenase and loss of enzyme activity in a human cell mutant lacking the mitochondrial ND4 gene product. , 1993, The EMBO journal.

[6]  S. Dimauro,et al.  Distribution of wild-type and common deletion forms of mtDNA in normal and respiration-deficient muscle fibers from patients with mitochondrial myopathy. , 1994, Human molecular genetics.

[7]  A. Munnich,et al.  Mitochondrial DNA rearrangements with onset as chronic diarrhea with villous atrophy. , 1994, The Journal of pediatrics.

[8]  S. Dimauro,et al.  Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy. , 1994, Kidney international.

[9]  A. Munnich,et al.  Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis. , 1995, The Journal of pediatrics.

[10]  E. Bonilla,et al.  Cytochemistry and immunocytochemistry of mitochondria in tissue sections. , 1996, Methods in enzymology.

[11]  S. Dimauro,et al.  Novel mutation in the mitochondrial DNA tRNA glycine gene associated with sudden unexpected death. , 1996, Pediatric neurology.

[12]  S. Dimauro,et al.  Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients , 1996, Annals of neurology.

[13]  A. Munnich,et al.  Neonatal and delayed-onset liver involvement in disorders of oxidative phosphorylation. , 1997, The Journal of pediatrics.

[14]  G. Attardi,et al.  The mtDNA‐encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme , 1998, The EMBO journal.

[15]  S. Dimauro,et al.  Multiple mtDNA deletions features in autosomal dominant and recessive diseases suggest distinct pathogeneses , 1998, Neurology.

[16]  A. Morris,et al.  Mitochondrial respiratory chain disorders and the liver. , 1999, Liver.

[17]  Y. Hatefi,et al.  The multiple nicotinamide nucleotide-binding subunits of bovine heart mitochondrial NADH:ubiquinone oxidoreductase (complex I). , 2000, European journal of biochemistry.

[18]  D. Turnbull,et al.  Epidemiology and treatment of mitochondrial disorders. , 2001, American journal of medical genetics.

[19]  L. Wong Recognition of mitochondrial DNA deletion syndrome with non-neuromuscular multisystemic manifestation , 2001, Genetics in Medicine.

[20]  Thomas D. Schmittgen,et al.  Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. , 2001, Methods.

[21]  Robert W. Taylor,et al.  Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. , 2002, Nucleic acids research.

[22]  A. Green,et al.  Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial DNA deletion. , 2002, American journal of medical genetics.

[23]  S. Dimauro,et al.  Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome. , 2002, American Journal of Human Genetics.

[24]  D. Wallace,et al.  A Case of Sporadic Infantile Histiocytoid Cardiomyopathy Caused by the A8344G (MERRF) Mitochondrial DNA Mutation , 2004, Pediatric Cardiology.

[25]  S. Dimauro,et al.  Mitochondrial respiratory-chain diseases. , 2003, The New England journal of medicine.

[26]  M. Zeviani,et al.  Clinical and molecular findings in children with complex I deficiency. , 2004, Biochimica et biophysica acta.

[27]  C. Remacle,et al.  Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin. , 2004, The Biochemical journal.

[28]  R. Naviaux,et al.  POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion , 2004, Annals of neurology.

[29]  R. Rodenburg,et al.  Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. , 2006, Clinical chemistry.

[30]  U. Brandt,et al.  Tight binding of NADPH to the 39-kDa subunit of complex I is not required for catalytic activity but stabilizes the multiprotein complex. , 2006, Biochimica et biophysica acta.

[31]  F. Camassei,et al.  Severe liver disease in early childhood due to fibrinogen storage and de novo gamma375Arg-->Trp gene mutation. , 2006, The Journal of pediatrics.

[32]  John E. Walker,et al.  Bovine Complex I Is a Complex of 45 Different Subunits* , 2006, Journal of Biological Chemistry.

[33]  Sarah Calvo,et al.  MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion , 2006, Nature Genetics.

[34]  R. Sokol,et al.  Mitochondrial hepatopathies: Advances in genetics and pathogenesis , 2007, Hepatology.

[35]  Rutger O. Vogel,et al.  Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients. , 2007, Molecular genetics and metabolism.

[36]  N. Brunetti‐Pierri,et al.  Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy , 2007, Hepatology.

[37]  M. Lazarou,et al.  Assembly of mitochondrial complex I and defects in disease. , 2009, Biochimica et biophysica acta.

[38]  M. Radermacher,et al.  Architecture of complex I and its implications for electron transfer and proton pumping. , 2009, Biochimica et biophysica acta.

[39]  V. Tiranti,et al.  Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects. , 2009, Biochimica et biophysica acta.

[40]  W. Craigen,et al.  Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes , 2010, PloS one.

[41]  Anu Suomalainen,et al.  Mitochondrial DNA depletion syndromes – Many genes, common mechanisms , 2010, Neuromuscular Disorders.

[42]  A. Rötig Human diseases with impaired mitochondrial protein synthesis. , 2011, Biochimica et biophysica acta.