Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy

Human Molecular Genetics

Volumn 16, Issue 10, 2007, Pages 1241-1252

  Fernandez Vizarra, Erika ^a   Bugiani, Marianna ^a   Goffrini, Paola ^b   Carrara, Franco ^a   Farina, Laura ^a   Procopio, Elena ^c   Donati, Alice ^c   Uziel, Graziella ^a   Ferrero, Iliana ^b   Zeviani, Massimo ^a  

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b UNIVERSITY OF PARMA   (Italy)

^c UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

BC1 SYNTHESIS LIKE PROTEIN; GENE PRODUCT; IRON SULFUR PROTEIN; MITOCHONDRIAL PROTEIN; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG;

ARTICLE; BASAL GANGLION; BRAIN ATROPHY; CASE REPORT; CLINICAL FEATURE; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; ENZYME DEFECT; ENZYME STRUCTURE; ENZYME SYNTHESIS; FEMALE; FIBROBLAST CULTURE; GENE FUNCTION; GENE MUTATION; GENE STRUCTURE; GENETIC ASSOCIATION; GENETIC CODE; GENETIC COMPLEMENTATION; GENETIC DISORDER; HETEROZYGOTE; HUMAN; HUMAN TISSUE; LACTIC ACIDOSIS; LYMPHOBLASTOID CELL LINE; MITOCHONDRIAL ENCEPHALOPATHY; MOLECULAR WEIGHT; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN FUNCTION; SACCHAROMYCES CEREVISIAE; SEIZURE; SKELETAL MUSCLE; SPASTICITY;

AMINO ACID SEQUENCE; BASE SEQUENCE; BRAIN; BRAIN DISEASES, METABOLIC, INBORN; CHILD, PRESCHOOL; DNA, COMPLEMENTARY; ELECTRON TRANSPORT COMPLEX III; FEMALE; GENETIC COMPLEMENTATION TEST; HETEROZYGOTE; HUMANS; IRON-SULFUR PROTEINS; MAGNETIC RESONANCE IMAGING; MITOCHONDRIAL DISEASES; MOLECULAR SEQUENCE DATA; MULTIPROTEIN COMPLEXES; MUTAGENESIS, SITE-DIRECTED; MUTATION; RECOMBINANT PROTEINS; SACCHAROMYCES CEREVISIAE; SEQUENCE HOMOLOGY, AMINO ACID;

MAMMALIA; SACCHAROMYCES CEREVISIAE;

EID: 34447336126     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddm072     Document Type: Article

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