The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway

American Journal of Human Genetics

Volumn 69, Issue 6, 2001, Pages 1186-1197

  Gimenez Roqueplo, A P ^a   Favier, J ^b   Rustin, P ^c   Mourad, J J ^d   Plouin, P F ^a   Corvol, P ^a,b   Rotig A ^c   Jeunemaitre, X ^a,b  

^a HÔPITAL EUROPÉEN GEORGES POMPIDOU   (France)

^b Centre de Recherche Interdisciplinaire en Biologie   (France)

^c HÔPITAL NECKER ENFANTS MALADES   (France)

^d Hopital Saint Michel   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MESSENGER RNA; PROTEIN SDHD; SUCCINATE DEHYDROGENASE (UBIQUINONE); TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR EPAS1; UNCLASSIFIED DRUG; VASCULOTROPIN;

ADULT; ARTICLE; CARCINOGENESIS; CAROTID BODY TUMOR; CHROMOSOME 11Q; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYME ACTIVITY; GENE INACTIVATION; GENETIC DISORDER; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; HYPOXIA; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; LEUKOCYTE; MALE; MITOCHONDRIAL RESPIRATION; MITOCHONDRION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PARAGANGLIOMA; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PROTEIN EXPRESSION; RESPIRATORY CHAIN; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

EID: 0035213138     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/324413     Document Type: Article

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