Literature DB >> 1379415

Mitochondrial tRNA(Thr) mutations and lethal infantile mitochondrial myopathy.

M D Brown, A Torroni, J M Shoffner, D C Wallace.   

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Year:  1992        PMID： 1379415      PMCID： PMC1682685     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  5 in total

1.  Identification of point mutations by mispairing PCR as exemplified in MERRF disease.

Authors:  P Seibel; F Degoul; N Romero; C Marsac; B Kadenbach
Journal:  Biochem Biophys Res Commun       Date:  1990-12-14       Impact factor: 3.575

2.  Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency.

Authors:  K L Yoon; J R Aprille; S G Ernst
Journal:  Biochem Biophys Res Commun       Date:  1991-05-15       Impact factor: 3.575

3.  Mitochondrial mutation in fatal infantile cardiomyopathy.

Authors:  M Tanaka; H Ino; K Ohno; K Hattori; W Sato; T Ozawa; T Tanaka; S Itoyama
Journal:  Lancet       Date:  1990-12-08       Impact factor: 79.321

4.  Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV.

Authors:  X Zheng; J M Shoffner; M T Lott; A S Voljavec; N S Krawiecki; K Winn; D C Wallace
Journal:  Neurology       Date:  1989-09       Impact factor: 9.910

5.  mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.

Authors:  C T Moraes; S Shanske; H J Tritschler; J R Aprille; F Andreetta; E Bonilla; E A Schon; S DiMauro
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025
  5 in total
  8 in total

1.  Exome sequencing of patients with histiocytoid cardiomyopathy reveals a de novo NDUFB11 mutation that plays a role in the pathogenesis of histiocytoid cardiomyopathy.

Authors:  Bahig M Shehata; Caitlin A Cundiff; Kevin Lee; Ankit Sabharwal; Mukesh Kumar Lalwani; Angela K Davis; Vartika Agrawal; Sridhar Sivasubbu; Glen J Iannucci; Greg Gibson
Journal:  Am J Med Genet A       Date:  2015-04-29       Impact factor: 2.802

Review 2.  Molecular basis of mitochondrial DNA disease.

Authors:  M D Brown; D C Wallace
Journal:  J Bioenerg Biomembr       Date:  1994-06       Impact factor: 2.945

3.  MELAS: a new disease associated mitochondrial DNA mutation and evidence for further genetic heterogeneity.

Authors:  M G Hanna; I P Nelson; J A Morgan-Hughes; N W Wood
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-10       Impact factor: 10.154

4.  Mutational analysis of the mitochondrial tRNA genes and flanking regions in umbilical cord tissue from uninfected infants receiving AZT-based therapies for prophylaxis of HIV-1.

Authors:  Salina M Torres; Dale M Walker; Consuelo L McCash; Meghan M Carter; Jessica Ming; Edmund M Cordova; Rachel M Pons; Dennis L Cook; Steven K Seilkop; William C Copeland; Vernon E Walker
Journal:  Environ Mol Mutagen       Date:  2009-01       Impact factor: 3.216

Review 5.  Mitochondrial encephalomyopathies: clinical and molecular analysis.

Authors:  E A Schon; M Hirano; S DiMauro
Journal:  J Bioenerg Biomembr       Date:  1994-06       Impact factor: 2.945

6.  Codon optimization is an essential parameter for the efficient allotopic expression of mtDNA genes.

Authors:  Caitlin J Lewis; Bhavna Dixit; Elizabeth Batiuk; Carter J Hall; Matthew S O'Connor; Amutha Boominathan
Journal:  Redox Biol       Date:  2020-01-11       Impact factor: 11.799

7.  The roles of mitochondrial tRNA mutations in non-dystrophic myotonias.

Authors:  Xue-Jiao Yu; Yu Ding
Journal:  Mitochondrial DNA B Resour       Date:  2020-11-20       Impact factor: 0.658

8.  The Detection and Partial Localisation of Heteroplasmic Mutations in the Mitochondrial Genome of Patients with Diabetic Retinopathy.

Authors:  Afshan N Malik; Hannah S Rosa; Eliane S de Menezes; Priyanka Tamang; Zaidi Hamid; Anita Naik; Chandani Kiran Parsade; Sobha Sivaprasad
Journal:  Int J Mol Sci       Date:  2019-12-11       Impact factor: 5.923
  8 in total

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