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Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations

The Journal of biological chemistry, 31 August 2018, Vol.293(35), pp.13604-13615 [Peer Reviewed Journal]

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Mitochondrial double-stranded RNA triggers antiviral signalling in humans.

Nature, August 2018, Vol.560(7717), pp.238-242 [Peer Reviewed Journal]

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Epileptic phenotypes in children with respiratory chain disorders.

Epilepsia, July 2010, Vol.51(7), pp.1225-1235 [Peer Reviewed Journal]

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Nuclear Outsourcing of RNA Interference Components to Human Mitochondria

PLoS One, Jun 2011, Vol.6(6), p.e20746 [Peer Reviewed Journal]

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Mutations in mitochondrial ribosomal protein MRPL12 leads to growth retardation, neurological deterioration and mitochondrial translation deficiency

BBA - Molecular Basis of Disease, August 2013, Vol.1832(8), pp.1304-1312 [Peer Reviewed Journal]

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Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegeneration with Brain Iron Accumulation

The American Journal of Human Genetics, 01 February 2018, Vol.102(2), pp.266-277 [Peer Reviewed Journal]

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Mutation in PNPT1, which Encodes a Polyribonucleotide Nucleotidyltransferase, Impairs RNA Import into Mitochondria and Causes Respiratory-Chain Deficiency

The American Journal of Human Genetics, 02 November 2012, Vol.91(5), pp.912-918 [Peer Reviewed Journal]

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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies

The American Journal of Human Genetics, 05 May 2016, Vol.98(5), pp.993-1000 [Peer Reviewed Journal]

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Iron redistribution as a therapeutic strategy for treating diseases of localized iron accumulation.

Canadian journal of physiology and pharmacology, March 2010, Vol.88(3), pp.187-196 [Peer Reviewed Journal]

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Redistribution of accumulated cell iron: a modality of chelation with therapeutic implications.

Blood, February 1, 2008, Vol.111(3), pp.1690-1699 [Peer Reviewed Journal]

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by this Author/Contributor:

  1. Munnich, Arnold
  2. Munnich, A.
  3. Rötig, Agnès
  4. Rotig, A
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