Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy
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Enrico Bertini | Filippo Maria Santorelli | R. Boldrini | E. Bertini | R. Carrozzo | F. Callea | F. Santorelli | M. Bianchi | A. Torraco | D. Martinelli | C. Dionisi-Vici | V. Nobili | Fiorella Piemonte | D. Verrigni | P. Francalanci | Valerio Nobili | F. Piemonte | Paola Francalanci | Rosalba Carrozzo | Diego Martinelli | Carlo Dionisi-Vici | Renata Boldrini | Marzia Bianchi | Teresa Rizza | Daniela Verrigni | Giulia Tozzi | Alessandra Torraco | Francesco Callea | T. Rizza | G. Tozzi
[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.