Tissue-specific splicing of ISCU results in a skeletal muscle phenotype in myopathy with lactic acidosis, while complete loss of ISCU results in early embryonic death in mice

Human Genetics

Volumn 129, Issue 4, 2011, Pages 371-378

  Nordin, Angelica ^a   Larsson, Elin ^a   Thornell, Lars Eric ^b   Holmberg, Monica ^a  

^a UMEÅ UNIVERSITY   (Sweden)

^b UMEÅ UNIVERSITY   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; IRON; IRON SULFUR PROTEIN; MESSENGER RNA; PROTEIN ISCU; UNCLASSIFIED DRUG;

ADULT; ALLELE; ALTERNATIVE RNA SPLICING; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BIOACCUMULATION; CONTROLLED STUDY; EMBRYO; EMBRYO DEATH; FEMALE; GENE CLUSTER; GENE DELETION; GENE LOSS; GENE MUTATION; HEART MUSCLE; HEREDITARY MYOPATHY WITH LACTIC ACIDOSIS; HUMAN; HUMAN TISSUE; INFANT; IRON METABOLISM; KIDNEY; LIVER; MALE; MOUSE; MUSCLE BIOPSY; MYOPATHY; NONHUMAN; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA EXTRACTION; SKELETAL MUSCLE; TISSUE SPECIFIC SPLICING; UPREGULATION; WESTERN BLOTTING;

ACIDOSIS, LACTIC; ADULT; ALTERNATIVE SPLICING; ANIMALS; BLOTTING, WESTERN; BRAIN; EMBRYO, MAMMALIAN; FEMALE; HUMANS; IRON-SULFUR PROTEINS; LIVER; MALE; MICE; MICE, INBRED BALB C; MICE, INBRED C57BL; MICE, KNOCKOUT; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DISEASES; MYOCARDIUM; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TIME FACTORS; YOUNG ADULT;

MAMMALIA; MUS;

EID: 79953832566     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-010-0931-3     Document Type: Article

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