A suggested role for mitochondria in Noonan syndrome

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1802, Issue 2, 2010, Pages 275-283

  Lee, Icksoo ^a   Pecinova, Alena ^a   Pecina, Petr ^a   Neel, Benjamin G ^b   Araki, Toshiyuki ^b   Kucherlapati, Raju ^c   Roberts, Amy E ^d   Hüttemann, Maik ^a  

^a WAYNE STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b PRINCESS MARGARET HOSPITAL   (Canada)

^c HARVARD MEDICAL SCHOOL   (United States)

^d BOSTON CHILDREN S HOSPITAL   (United States)

Author keywords

Cardio facio cutaneous syndrome; Cytochrome c oxidase; Mitochondria; Noonan syndrome; Oxidative phosphorylation; PTPN11; Reactive oxygen species; SHP2

Indexed keywords

ACONITATE HYDRATASE; ADENOSINE TRIPHOSPHATE; CATALASE; CYTOCHROME C; CYTOCHROME C OXIDASE; MITOGEN ACTIVATED PROTEIN KINASE; PROTEIN TYROSINE PHOSPHATASE SHP 2; REACTIVE OXYGEN METABOLITE;

ANIMAL CELL; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CELL ENERGY; CONGENITAL HEART MALFORMATION; CONTROLLED STUDY; ENZYME ACTIVITY; ENZYME LOCALIZATION; ENZYME REGULATION; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; LYMPHOBLAST; MITOCHONDRIAL MEMBRANE; MITOCHONDRIAL MEMBRANE POTENTIAL; MITOCHONDRION; MOUSE; NONHUMAN; NOONAN SYNDROME; ORGANOGENESIS; OXIDATIVE PHOSPHORYLATION; PATHOGENESIS; PRIORITY JOURNAL; WILD TYPE;

ANIMALS; B-LYMPHOCYTES; CYTOCHROMES C; ELECTRON TRANSPORT COMPLEX IV; FIBROBLASTS; HUMANS; KINETICS; MEMBRANE POTENTIALS; MICE; MICE, KNOCKOUT; MICE, MUTANT STRAINS; MITOCHONDRIA; MITOCHONDRIAL MEMBRANES; MUTATION; NOONAN SYNDROME; OXIDATIVE PHOSPHORYLATION; PROTEIN TYROSINE PHOSPHATASE, NON-RECEPTOR TYPE 11; REACTIVE OXYGEN SPECIES; REFERENCE VALUES;

EID: 74149092850     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2009.10.005     Document Type: Article

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