Literature DB >> 11405339

Clinical and molecular studies of mitochondrial disease.

Y Goto1.   

Abstract

Our knowledge of mitochondrial disorders has expanded enormously through advances in mitochondrial DNA (mtDNA) research during the last decade. This has also provided information about the complicated genotype-phenotype relationship based on distinct characteristics of mtDNA itself. These include multicopy, vulnerability to the mutation, and cytoplasmic inheritance. There are complications of heteroplasmy, tissue/cell specificity, accumulation of mutations and material inheritance.

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Year:  2001        PMID： 11405339     DOI： 10.1023/a:1010366917652

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


  30 in total

1.  Strongly succinate dehydrogenase-reactive blood vessels in muscles from patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes.

Authors:  H Hasegawa; T Matsuoka; Y Goto; I Nonaka
Journal:  Ann Neurol       Date:  1991-06       Impact factor: 10.422

2.  Single muscle fiber analysis in patients with 3243 mutation in mitochondrial DNA: comparison with the phenotype and the proportion of mutant genome.

Authors:  M Ozawa; I Nonaka; Y Goto
Journal:  J Neurol Sci       Date:  1998-08-14       Impact factor: 3.181

3.  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

4.  Mitochondrial encephalomyopathies and cytochrome c oxidase deficiency: muscle culture study.

Authors:  I Nonaka; Y Koga; A Kikuchi; Y Goto
Journal:  Acta Neuropathol       Date:  1991       Impact factor: 17.088

5.  Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy.

Authors:  M Schuelke; J Smeitink; E Mariman; J Loeffen; B Plecko; F Trijbels; S Stöckler-Ipsiroglu; L van den Heuvel
Journal:  Nat Genet       Date:  1999-03       Impact factor: 38.330

6.  Human deafness dystonia syndrome is a mitochondrial disease.

Authors:  C M Koehler; D Leuenberger; S Merchant; A Renold; T Junne; G Schatz
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-02       Impact factor: 11.205

7.  Vascular involvement in mitochondrial myopathy.

Authors:  R Sakuta; I Nonaka
Journal:  Ann Neurol       Date:  1989-06       Impact factor: 10.422

8.  Maternally inherited duplication of the mitochondrial genome in a syndrome of proximal tubulopathy, diabetes mellitus, and cerebellar ataxia.

Authors:  A Rötig; J L Bessis; N Romero; V Cormier; J M Saudubray; P Narcy; G Lenoir; P Rustin; A Munnich
Journal:  Am J Hum Genet       Date:  1992-02       Impact factor: 11.025

9.  Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder.

Authors:  I Nishino; A Spinazzola; M Hirano
Journal:  Science       Date:  1999-01-29       Impact factor: 47.728

10.  Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.

Authors:  V Tiranti; K Hoertnagel; R Carrozzo; C Galimberti; M Munaro; M Granatiero; L Zelante; P Gasparini; R Marzella; M Rocchi; M P Bayona-Bafaluy; J A Enriquez; G Uziel; E Bertini; C Dionisi-Vici; B Franco; T Meitinger; M Zeviani
Journal:  Am J Hum Genet       Date:  1998-12       Impact factor: 11.025
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  2 in total

1.  Identification of a new missense mutation in the mtDNA of hereditary hypertrophic, but not dilated cardiomyopathic hamsters.

Authors:  Marilena Minieri; Mara Zingarelli; Huda Shubeita; Alba Vecchini; Luciano Binaglia; Felicia Carotenuto; Cristina Fantini; Roberta Fiaccavento; Laura Masuelli; Anna Coletti; Lucilla Simonelli; Andrea Modesti; Paolo Di Nardo
Journal:  Mol Cell Biochem       Date:  2003-10       Impact factor: 3.396

2.  Psychiatric symptoms of patients with primary mitochondrial DNA disorders.

Authors:  Gabriella Inczedy-Farkas; Viktoria Remenyi; Aniko Gal; Zsofia Varga; Petra Balla; Agnes Udvardy-Meszaros; Benjamin Bereznai; Maria Judit Molnar
Journal:  Behav Brain Funct       Date:  2012-02-13       Impact factor: 3.759
  2 in total

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