A mutation in the mitochondrial fission gene Dnm1l leads to cardiomyopathy

PLoS Genetics

Volumn 6, Issue 6, 2010, Pages 1-18

  Ashrafian, Houman ^a   Docherty, Louise ^b   Leo, Vincenzo ^c   Towlson, Christopher ^b   Neilan, Monica ^b   Steeples, Violetta ^a   Lygate, Craig A ^a   Hough, Tertius ^c   Townsend, Stuart ^c   Williams, Debbie ^d   Wells, Sara ^d   Norris, Dominic ^d   Glyn Jones, Sarah ^e   Land, John ^f   Barbaric, Ivana ^b   Lalanne, Zuzanne ^d   Denny, Paul ^d   Szumska, Dorota ^a   Bhattacharya, Shoumo ^a   Griffin, Julian L ^e   Hargreaves, Iain ^f   Fernandez Fuentes, Narcis ^c   Cheeseman, Michael ^d   Watkins, Hugh ^a   Dear, T Neil ^b,c,d   more..

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b UNIVERSITY OF SHEFFIELD   (United Kingdom)

^c ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^d Medical Research Council Harwell Institute   (United Kingdom)

^e UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^f National Hospital   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; DYNAMIN; DYNAMIN 1 LIKE PROTEIN; MITOCHONDRIAL DNA; UNCLASSIFIED DRUG; DNM1L PROTEIN, MOUSE; GUANOSINE TRIPHOSPHATASE; MICROTUBULE ASSOCIATED PROTEIN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONGESTIVE CARDIOMYOPATHY; CONGESTIVE HEART FAILURE; CONTROLLED STUDY; EMBRYO; ENERGY METABOLISM; FIBROBLAST; HEART MITOCHONDRION; HEART MUSCLE METABOLISM; HOMOZYGOSITY; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; NUCLEIC ACID BASE SUBSTITUTION; PEROXISOME; PROTEIN INTERACTION; AMINO ACID SEQUENCE; ANIMAL; ANIMAL EMBRYO; BAGG ALBINO MOUSE; CHEMICAL STRUCTURE; CHEMISTRY; GENETIC PREDISPOSITION; GENETICS; METABOLISM; MITOCHONDRIAL GENE; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROTEIN QUATERNARY STRUCTURE; SEQUENCE ALIGNMENT; TRANSMISSION ELECTRON MICROSCOPY;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CARDIOMYOPATHY, DILATED; EMBRYO, MAMMALIAN; GENES, MITOCHONDRIAL; GENETIC PREDISPOSITION TO DISEASE; GTP PHOSPHOHYDROLASES; MALE; MICE; MICE, INBRED BALB C; MICROSCOPY, ELECTRON, TRANSMISSION; MICROTUBULE-ASSOCIATED PROTEINS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PROTEIN STRUCTURE, QUATERNARY; SEQUENCE ALIGNMENT;

EID: 77954169092     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1001000     Document Type: Article

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