Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency

Human Mutation

Volumn 31, Issue 8, 2010, Pages 930-941

  Morán, María ^a,b   Marín Buera, Lorena ^a,b   Carmen Gil Borlado, M ^a,b   Rivera, Henry ^a,b   Blázquez, Alberto ^a,b   Seneca, Sara ^c   Vázquez López, María ^d   Arenas, Joaquín ^a,b   Martín, Miguel A ^a,b   Ugalde, Cristina ^a,b  

^a HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c Center of Medical Genetics and Primary Health Care   (Armenia)

^d HOSPITAL GENERAL UNIVERSITARIO GREGORIO MARAÑÓN   (Spain)

Author keywords

BCS1L; Mitochondria; Respiratory chain complex III deficiency

Indexed keywords

GLUCOSE; HYDROGEN PEROXIDE; MITOFUSIN 2; PROTEIN; PROTEIN BCS1L; REACTIVE OXYGEN METABOLITE; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG; ANTIOXIDANT; BCS1L PROTEIN, HUMAN; COMPLEMENTARY DNA;

ANTIOXIDANT ACTIVITY; APOPTOSIS; ARTICLE; CELL FRACTIONATION; CELL FUNCTION; CELL GROWTH; CHILD; CLINICAL ARTICLE; COMPLEX III DEFICIENCY; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DNA FRAGMENTATION; DNA SEQUENCE; ENZYME ACTIVATION; FEMALE; FIBROBLAST; FLOW CYTOMETRY; GENE MUTATION; GROWTH RATE; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE; INFANT; MALE; NEWBORN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYACRYLAMIDE GEL ELECTROPHORESIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN EXPRESSION; RESPIRATORY CHAIN; SEQUENCE ANALYSIS; STEADY STATE; CASE REPORT; CELL CULTURE; CELL PROLIFERATION; DEFICIENCY; ENZYMOLOGY; FATALITY; GENETICS; METABOLISM; MITOCHONDRION; MUTATION; PATHOLOGY; SKIN; WESTERN BLOTTING;

ANTIOXIDANTS; APOPTOSIS; BLOTTING, WESTERN; CELL PROLIFERATION; CELLS, CULTURED; CHILD, PRESCHOOL; DNA, COMPLEMENTARY; ELECTRON TRANSPORT COMPLEX III; FATAL OUTCOME; FEMALE; FIBROBLASTS; HUMANS; INFANT; INFANT, NEWBORN; MALE; MITOCHONDRIA; MUTATION; REACTIVE OXYGEN SPECIES; SKIN; SUBCELLULAR FRACTIONS;

EID: 77955059876     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21294     Document Type: Article

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