PubRank

R N Lightowlers

Author PubWeight™ 75.66‹?›

Top papers

Rank Title Journal Year PubWeight™‹?›
1 Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet 1999 18.22
2 The inheritance of mitochondrial DNA heteroplasmy: random drift, selection or both? Trends Genet 2000 2.19
3 Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes. Brain 1997 2.09
4 Role of mitochondrial DNA mutations in human aging: implications for the central nervous system and muscle. Ann Neurol 1998 2.08
5 Transmission of mitochondrial DNA disorders: possibilities for the future. Lancet 2006 2.05
6 Peptide nucleic acid delivery to human mitochondria. Gene Ther 1999 1.77
7 Selective inhibition of mutant human mitochondrial DNA replication in vitro by peptide nucleic acids. Nat Genet 1997 1.53
8 Analysis of European mtDNAs for recombination. Am J Hum Genet 2000 1.51
9 Can paternal mtDNA be inherited? Lancet 2000 1.41
10 Reversal of a mitochondrial DNA defect in human skeletal muscle. Nat Genet 1997 1.34
11 Abnormal RNA processing associated with a novel tRNA mutation in mitochondrial DNA. A potential disease mechanism. J Biol Chem 1993 1.31
12 Molecular neuropathology of MELAS: level of heteroplasmy in individual neurones and evidence of extensive vascular involvement. Neuropathol Appl Neurobiol 2006 1.29
13 MELAS and MERRF. The relationship between maternal mutation load and the frequency of clinically affected offspring. Brain 1998 1.26
14 Targeting peptide nucleic acid (PNA) oligomers to mitochondria within cells by conjugation to lipophilic cations: implications for mitochondrial DNA replication, expression and disease. Nucleic Acids Res 2001 1.23
15 Nonrandom tissue distribution of mutant mtDNA. Am J Med Genet 1999 1.22
16 Inhibition of mitochondrial protein synthesis promotes increased stability of nuclear-encoded respiratory gene transcripts. J Biol Chem 1994 1.15
17 Progress and prospects: gene therapy for mitochondrial DNA disease. Gene Ther 2008 1.12
18 Intracellular mitochondrial triplasmy in a patient with two heteroplasmic base changes. Am J Hum Genet 1997 1.11
19 Identification of the NAD(+)-binding fold of glyceraldehyde-3-phosphate dehydrogenase as a novel RNA-binding domain. Biochem Biophys Res Commun 2000 1.10
20 An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy. Am J Hum Genet 1999 1.08
21 Mitochondrial DNA deletion in "identical" twin brothers. J Med Genet 2004 1.06
22 Gene therapy for mitochondrial DNA defects: is it possible? Gene Ther 1995 1.03
23 Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome. Ann Neurol 1997 1.01
24 175th ENMC International Workshop: Mitochondrial protein synthesis in health and disease, 25-27th June 2010, Naarden, The Netherlands. Neuromuscul Disord 2010 0.99
25 How do mammalian mitochondria synthesize proteins? Biochem Soc Trans 2007 0.93
26 A microtiter plate assay for cytochrome c oxidase in permeabilized whole cells. Anal Biochem 1993 0.93
27 Transmitochondrial embryonic stem cells containing pathogenic mtDNA mutations are compromised in neuronal differentiation. Cell Prolif 2009 0.89
28 Absence of expression from RNA internalised into electroporated mammalian mitochondria. Mol Genet Genomics 2001 0.89
29 The mRNA-binding protein COLBP is glutamate dehydrogenase. FEBS Lett 1995 0.89
30 Medium chain acyl-CoA dehydrogenase deficiency caused by a deletion of exons 11 and 12. Hum Mol Genet 1995 0.88
31 Post-transcriptional regulation of tissue-specific isoforms. A bovine cytosolic RNA-binding protein, COLBP, associates with messenger RNA encoding the liver-form isopeptides of cytochrome c oxidase. J Biol Chem 1993 0.88
32 Treatment of mitochondrial disease. J Bioenerg Biomembr 1997 0.87
33 A novel mitochondrial tRNA phenylalanine mutation presenting with acute rhabdomyolysis. Ann Neurol 1997 0.87
34 An essential guide to mtDNA maintenance. Nat Genet 1998 0.86
35 Genetic counseling and prenatal diagnosis for mtDNA disease. Am J Hum Genet 1998 0.86
36 An antigenomic strategy for treating heteroplasmic mtDNA disorders. Adv Drug Deliv Rev 2001 0.86
37 Inhibition of mitochondrial protein synthesis promotes autonomous regulation of mtDNA expression and generation of a new mitochondrial RNA species. FEBS Lett 2001 0.86
38 Identification of bovine glutamate dehydrogenase as an RNA-binding protein. J Biol Chem 1993 0.85
39 Proving pathogenicity: when evolution is not enough. Am J Med Genet A 2004 0.84
40 Molecular basis for treatment of mitochondrial myopathies. Neurol Sci 2000 0.84
41 Human mitochondria: distinct organelles or dynamic network? Trends Genet 1995 0.84
42 Conversion of a reporter gene for mitochondrial gene expression using iterative mega-prime PCR. Gene 1999 0.82
43 Developmental regulation of tissue-specific isoforms of subunit VIa of beef cytochrome c oxidase. Biochim Biophys Acta 1994 0.82
44 Targeting large molecules to mitochondria. Adv Drug Deliv Rev 2001 0.81
45 Sodium channel mRNAs at the neuromuscular junction: distinct patterns of accumulation and effects of muscle activity. J Neurosci 2001 0.81
46 Glutamate dehydrogenase: an organelle-specific mRNA-binding protein. Trends Biochem Sci 1997 0.80
47 The tissue-specific RNA-binding protein COLBP is differentially regulated during myogenesis. Biochim Biophys Acta 1994 0.79
48 Might mammalian mitochondria merge? Nat Med 2001 0.79
49 Fending off decay: a combinatorial approach in intact cells for identifying mRNA stability elements. RNA 2001 0.79
50 Why do mammalian mitochondria possess a mismatch repair activity? FEBS Lett 2003 0.78
51 Mutational analysis of the function of the a-subunit of the F0F1-APPase of Escherichia coli. Biochim Biophys Acta 1990 0.77
52 Isolation of a cDNA specifying subunit VIIb of human cytochrome c oxidase. Biochim Biophys Acta 1993 0.77
53 Linked oligodeoxynucleotides show binding cooperativity and can selectively impair replication of deleted mitochondrial DNA templates. Nucleic Acids Res 2001 0.76
54 Does the mitochondrial transcription-termination complex play an essential role in controlling differential transcription of the mitochondrial DNA? Biochem Soc Trans 2000 0.76
55 Mitochondrial DNA recombination. Lancet 2000 0.75
56 SCID mice containing muscle with human mitochondrial DNA mutations. An animal model for mitochondrial DNA defects. J Clin Invest 1998 0.75
57 In-vitro genetic modification of mitochondrial function. Hum Reprod 2000 0.75
58 An antisense oligodeoxynucleotide approach to investigate the function of the nuclear-encoded subunits of human cytochrome c oxidase. Biochem Biophys Res Commun 1993 0.75
59 Current perspectives in the treatment of mitochondrial DNA diseases. Funct Neurol 2001 0.75