Aberrant mitochondria in a bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the Collagen VI α2(VI) chain

Journal of Biological Chemistry

Volumn 290, Issue 7, 2015, Pages 4272-4281

  Zamurs, Laura K ^a   Idoate, Miguel A ^b   Hanssen, Eric ^c   Gomez Ibañez, Asier ^b   Pastor, Pau ^b,e,f   Lamandé, Shireen R ^a,d  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b UNIVERSITY CLINIC OF NAVARRA   (Spain)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e UNIVERSITY OF NAVARRA   (Spain)

^f INSTITUTO DE SALUD CARLOS III   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

AMINO ACIDS; COLLAGEN;

AMINO ACID SUBSTITUTION; GLOBULAR DOMAINS;

CHAINS;

COLLAGEN TYPE 6; COLLAGEN VI ALPHA2 PROTEIN; PROTEASOME; TETRAMER; UNCLASSIFIED DRUG; MESSENGER RNA;

ADULT; ALTERNATIVE RNA SPLICING; AMINO ACID SUBSTITUTION; ARTICLE; BETHLEM MYOPATHY; CARBOXY TERMINAL SEQUENCE; COL6A2 GENE; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTRON MICROSCOPY; EXTRACELLULAR MATRIX; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN TISSUE; MUSCLE BIOPSY; MUTATIONAL ANALYSIS; MYOPATHY; PROTEIN DOMAIN; WILD TYPE; CASE REPORT; CELL CULTURE; CHEMISTRY; CONTRACTURE; FIBROBLAST; GENETICS; GENOTYPE; HOMOZYGOTE; MALE; METABOLISM; MIDDLE AGED; MITOCHONDRION; MUSCULAR DYSTROPHIES; MUTATION; PATHOLOGY; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; WESTERN BLOTTING;

AMINO ACID SUBSTITUTION; BLOTTING, WESTERN; CELLS, CULTURED; COLLAGEN TYPE VI; CONTRACTURE; FIBROBLASTS; GENOTYPE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MITOCHONDRIA; MUSCULAR DYSTROPHIES; MUTATION; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER;

EID: 84922812675     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M114.632208     Document Type: Article

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