Literature DB >> 8894413

Mitochondrial disorders.

C T Moraes1.   

Abstract

Eight years after the first description of mitochondrial DNA mutations in neuromuscular syndromes, the relatively unknown field of mitochondrial disorders has become a major topic not only in neurology, but in various other fields of medicine. Dozens of mitochondrial DNA mutations have been associated with neuromuscular, ophthalmologic, endocrinologic, gastrointestinal, and even psychiatric disorders. In addition, potentially pathogenic mutations in mitochondrial DNA have also been identified in normal aging and age-related neurodegenerative disorders. Despite the wealth of information and insights gathered, treatment is still tentative.

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Year:  1996        PMID: 8894413     DOI: 10.1097/00019052-199610000-00010

Source DB:  PubMed          Journal:  Curr Opin Neurol        ISSN: 1350-7540            Impact factor:   5.710


  6 in total

1.  Phenotype variability in 130 adult patients with respiratory chain disorders.

Authors:  J Finsterer; C Jarius; H Eichberger
Journal:  J Inherit Metab Dis       Date:  2001-10       Impact factor: 4.982

2.  A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn).

Authors:  H Hao; C T Moraes
Journal:  Mol Cell Biol       Date:  1997-12       Impact factor: 4.272

3.  The tamas gene, identified as a mutation that disrupts larval behavior in Drosophila melanogaster, codes for the mitochondrial DNA polymerase catalytic subunit (DNApol-gamma125).

Authors:  B Iyengar; J Roote; A R Campos
Journal:  Genetics       Date:  1999-12       Impact factor: 4.562

4.  Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

Authors:  M G Hanna; I P Nelson; S Rahman; R J Lane; J Land; S Heales; M J Cooper; A H Schapira; J A Morgan-Hughes; N W Wood
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

Review 5.  Diagnosis and treatment of childhood mitochondrial diseases.

Authors:  A L Gropman
Journal:  Curr Neurol Neurosci Rep       Date:  2001-03       Impact factor: 6.030

6.  iPSC-derived homogeneous populations of developing schizophrenia cortical interneurons have compromised mitochondrial function.

Authors:  Peiyan Ni; Haneul Noh; Gun-Hoo Park; Zhicheng Shao; Youxin Guan; James M Park; Sophy Yu; Joy S Park; Joseph T Coyle; Daniel R Weinberger; Richard E Straub; Bruce M Cohen; Donna L McPhie; Changhong Yin; Weihua Huang; Hae-Young Kim; Sangmi Chung
Journal:  Mol Psychiatry       Date:  2019-04-24       Impact factor: 15.992

  6 in total

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