Literature DB >> 7946532

Oxidative phosphorylation diseases and mitochondrial DNA mutations: diagnosis and treatment.

J M Shoffner1, D C Wallace.   

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Year:  1994        PMID： 7946532     DOI： 10.1146/annurev.nu.14.070194.002535

Source DB:  PubMed          Journal:  Annu Rev Nutr        ISSN： 0199-9885            Impact factor:   11.848


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  19 in total

1.  Mitochondrial myopathy presenting as ataxia with dilated cardiomyopathy.

Authors:  S Gulati; A Das Gupta; M Kabra; R Juneja; M C Sharma; V Kalra
Journal:  Indian J Pediatr       Date:  2001-04       Impact factor: 1.967

Review 2.  Heart mitochondria signaling pathways: appraisal of an emerging field.

Authors:  José Marín-García; Michael J Goldenthal
Journal:  J Mol Med (Berl)       Date:  2004-06-23       Impact factor: 4.599

3.  Diagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes in a Chinese family by PCR/restriction enzyme analysis.

Authors:  C W Lam; K Jain; K Y Chan; D K Silva; Y W Chan; L J Wong
Journal:  Clin Mol Pathol       Date:  1995-10

Review 4.  Mitochondrial energetics and therapeutics.

Authors:  Douglas C Wallace; Weiwei Fan; Vincent Procaccio
Journal:  Annu Rev Pathol       Date:  2010       Impact factor: 23.472

5.  Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit.

Authors:  L van den Heuvel; W Ruitenbeek; R Smeets; Z Gelman-Kohan; O Elpeleg; J Loeffen; F Trijbels; E Mariman; D de Bruijn; J Smeitink
Journal:  Am J Hum Genet       Date:  1998-02       Impact factor: 11.025

Review 6.  The costs of being male: are there sex-specific effects of uniparental mitochondrial inheritance?

Authors:  Madeleine Beekman; Damian K Dowling; Duur K Aanen
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2014-07-05       Impact factor: 6.237

7.  Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.

Authors:  A S Jun; I A Trounce; M D Brown; J M Shoffner; D C Wallace
Journal:  Mol Cell Biol       Date:  1996-03       Impact factor: 4.272

8.  Molecular remedy of complex I defects: rotenone-insensitive internal NADH-quinone oxidoreductase of Saccharomyces cerevisiae mitochondria restores the NADH oxidase activity of complex I-deficient mammalian cells.

Authors:  B B Seo; T Kitajima-Ihara; E K Chan; I E Scheffler; A Matsuno-Yagi; T Yagi
Journal:  Proc Natl Acad Sci U S A       Date:  1998-08-04       Impact factor: 11.205

9.  Biochemical monitoring of the treatment in paediatric patients with mitochondrial disease.

Authors:  R Artuch; M A Vilaseca; M Pineda
Journal:  J Inherit Metab Dis       Date:  1998-12       Impact factor: 4.982

10.  Disruption of mitochondrial DNA replication in Drosophila increases mitochondrial fast axonal transport in vivo.

Authors:  Rehan M Baqri; Brittany A Turner; Mary B Rheuben; Bradley D Hammond; Laurie S Kaguni; Kyle E Miller
Journal:  PLoS One       Date:  2009-11-17       Impact factor: 3.240
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