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

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1832, Issue 8, 2013, Pages 1304-1312

  Serre, Valérie ^a   Rozanska, Agata ^c   Beinat, Marine ^a   Chretien, Dominique ^a   Boddaert, Nathalie ^a   Munnich, Arnold ^a   Rötig, Agnès ^a,b   Chrzanowska Lightowlers, Zofia M ^c  

^a UNIVERSITÉ PARIS DESCARTES   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

Disease; Mitochondria; Mitoribosome; OXPHOS defect; Protein synthesis

Indexed keywords

MITOCHONDRIAL PROTEIN; MITOCHONDRIAL RIBOSOMAL PROTEIN L12; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOME 17Q; CONTROLLED STUDY; EXON; FIBROBLAST; GENE MUTATION; GENE SEQUENCE; GROWTH RETARDATION; HOMOZYGOSITY; HUMAN; MALE; MUSCLE; NEUROLOGIC DISEASE; PRIORITY JOURNAL; PROTEIN SYNTHESIS; RESPIRATORY CHAIN;

AMINO ACID SEQUENCE; CELL CYCLE PROTEINS; CELLS, CULTURED; CHILD, PRESCHOOL; FIBROBLASTS; GENOTYPE; GROWTH DISORDERS; HUMANS; MALE; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MITOCHONDRIAL PROTEINS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; NERVOUS SYSTEM DISEASES; NUCLEAR PROTEINS; PEPTIDE CHAIN ELONGATION, TRANSLATIONAL; RIBOSOMAL PROTEINS; SEQUENCE ALIGNMENT;

EID: 84877320879     PISSN: 09254439     EISSN: 1879260X     Source Type: Journal    
DOI: 10.1016/j.bbadis.2013.04.014     Document Type: Article

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