The impairment of HCCS leads to MLS syndrome by activating a non-canonical cell death pathway in the brain and eyes

EMBO Molecular Medicine

Volumn 5, Issue 2, 2013, Pages 280-293

  Indrieri, Alessia ^a   Conte, Ivan ^a   Chesi, Giancarlo ^a   Romano, Alessia ^a   Quartararo, Jade ^b   Tatè, Rosarita ^c   Ghezzi, Daniele ^d   Zeviani, Massimo ^d   Goffrini, Paola ^b   Ferrero, Ileana ^b   Bovolenta, Paola ^e   Franco, Brunella ^f  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

^b UNIVERSITY OF PARMA   (Italy)

^c INSTITUTE OF GENETICS AND BIOPHYSICS ADRIANO BUZZATI TRAVERSO   (Italy)

^d DEPARTMENT OF NEUROSURGERY   (Italy)

^e CENTRO DE BIOLOGÍA MOLECULAR SEVERO OCHOA   (Spain)

^f UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

Apoptosis; Eye development; Holo cytochrome c type synthase; Mitochondrial diseases; MLS syndrome

Indexed keywords

CASPASE 9; HOLO CYTOCHROME C TYPE SYNTHASE; REACTIVE OXYGEN METABOLITE; SYNTHETASE; UNCLASSIFIED DRUG;

APOPTOSIS; ARTICLE; CELL DEATH; CONTROLLED STUDY; DOWN REGULATION; EMBRYO; ENZYME PHOSPHORYLATION; GENE MUTATION; IN VITRO STUDY; MICROPHTHALMIA; MICROPHTHALMIA WITH LINEAR SKIN LESION; MITOCHONDRION; NONHUMAN; ORYZIAS; OXIDATIVE PHOSPHORYLATION; PHENOTYPE; PRIORITY JOURNAL; RESPIRATORY CHAIN; SKIN DEFECT;

ANIMALS; APOPTOSIS; BRAIN; CASPASE 9; CYTOCHROMES C; DISEASE MODELS, ANIMAL; EYE; FEMALE; FISH PROTEINS; GENE KNOCKDOWN TECHNIQUES; HUMANS; LYASES; MALE; MICROPHTHALMOS; ORYZIAS;

EID: 84873294408     PISSN: 17574676     EISSN: 17574684     Source Type: Journal    
DOI: 10.1002/emmm.201201739     Document Type: Article

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