Contribution of novel ATGL missense mutations to the clinical phenotype of NLSD-M: A strikingly low amount of lipase activity may preserve cardiac function

Human Molecular Genetics

Volumn 21, Issue 24, 2012, Pages 5318-5328

  Tavian, Daniela ^a   Missaglia, Sara ^a   Redaelli, Chiara ^a   Pennisi, Elena M ^b   Invernici, Gloria ^a   Wessalowski, Ruediger ^c   Maiwald, Robert ^d   Arca, Marcello ^e   Coleman, Rosalind A ^f  

^a UNIVERSITÀ CATTOLICA DEL SACRO CUORE   (Italy)

^b ACO San Filippo Neri   (Italy)

^c HEINRICH HEINE UNIVERSITY   (Germany)

^d MVZ for Laboratory Medicine   (Germany)

^e SAPIENZA UNIVERSITY OF ROME   (Italy)

^f IL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADIPOSE TRIGLYCERIDE LIPASE; ARGININE; ASPARTIC ACID; CHOLESTEROL; CREATINE KINASE; FAT DROPLET; LYSINE; PROLINE; TRIACYLGLYCEROL LIPASE; UNCLASSIFIED DRUG;

ADULT; AGED; ARTICLE; CASE REPORT; CHOLESTEROL BLOOD LEVEL; CONTROLLED STUDY; CREATINE KINASE BLOOD LEVEL; CYTOSOL; DIARRHEA; DNA STRUCTURE; DYSPNEA; ECHOCARDIOGRAPHY; ELECTROCARDIOGRAPHY; ELECTROMYOGRAPHY; ENZYME ACTIVITY; EXERCISE TEST; FATIGUE; FEMALE; GALLSTONE; GENE EXPRESSION; GENE OVEREXPRESSION; GLUTEUS MAXIMUS MUSCLE; HEART FUNCTION; HEART LEFT VENTRICLE HYPERTROPHY; HEART LEFT VENTRICLE OVERLOAD; HEART RATE; HEART SCINTISCANNING; HEART VENTRICLE SEPTUM DEFECT; HETEROZYGOTE; HOLTER MONITORING; HOMOZYGOSITY; HUMAN; HUMAN CELL; HUMAN CELL CULTURE; HUMAN TISSUE; HYPERTENSION; HYPOTHYROIDISM; ITALY; LABOR COMPLICATION; LEBANON; LIPID COMPOSITION; LIPIDOSIS; LIPOLYSIS; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE CRAMP; MUSCLE SPASM; MUSCLE STRENGTH; MUTATIONAL ANALYSIS; MYALGIA; MYOCARDIAL DISEASE; MYOTONIA; NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY; NUCLEOTIDE SEQUENCE; PANCREATITIS; PHENOTYPE; PHYSICAL DISABILITY; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; QUADRICEPS FEMORIS MUSCLE; SIBLING; SKIN FIBROBLAST; STEROID THERAPY; TACHYCARDIA; THORAX PAIN; TRANSMISSION ELECTRON MICROSCOPY; TRANSTHORACIC ECHOCARDIOGRAPHY; UMBILICAL CORD COMPLICATION; WILD TYPE;

ADULT; AGED; BLOTTING, WESTERN; CARDIOMYOPATHIES; CHROMATOGRAPHY, THIN LAYER; FEMALE; FIBROBLASTS; HELA CELLS; HUMANS; LIPASE; LIPID METABOLISM, INBORN ERRORS; MALE; MICROSCOPY, FLUORESCENCE; MUSCULAR DISEASES; MUTAGENESIS, SITE-DIRECTED; MUTATION, MISSENSE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRIGLYCERIDES;

EID: 84870351484     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/dds388     Document Type: Article

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