Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

American Journal of Human Genetics

Volumn 95, Issue 3, 2014, Pages 315-325

  Melchionda, Laura ^a   Haack, Tobias B ^b   Hardy, Steven ^c   Abbink, Truus E M ^d   Fernandez Vizarra, Erika ^e   Lamantea, Eleonora ^f   Marchet, Silvia ^a   Morandi, Lucia ^g   Moggio, Maurizio ^h   Carrozzo, Rosalba ⁱ   Torraco, Alessandra ^j   Diodato, Daria ^k   Strom, Tim M ^l   Meitinger, Thomas ^a   Tekturk, Pinar ^a   Yapici, Zuhal ^b   Al Murshedi, Fathiya ^c   Stevens, Rene ^e   Rodenburg, Richard J ^f   Lamperti, Costanza ^a   Ardissone, Anna ^g   Moroni, Isabella ^g   Uziel, Graziella ^a   Prokisch, Holger ^b   Taylor, Robert W ^a   Bertini, Enrico ^a   Van Der Knaap, Marjo S ^a   Ghezzi, Daniele ^a   Zeviani, Massimo ^a   more..

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^g UNIVERSITY OF MILAN   (Italy)

^h BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

ⁱ ISTANBUL UNIVERSITY   (Turkey)

^j SULTAN QABOOS UNIVERSITY HOSPITAL   (Oman)

^k CHC Clinique de L'Esperance at Liege   (Belgium)

^l RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

more..

Author keywords

[No Author keywords available]

Indexed keywords

APOPT1 PROTEIN; COMPLEMENTARY DNA; CYTOCHROME C OXIDASE; MEMBRANE PROTEIN; PROTEASOME; PROTEIN VARIANT; REACTIVE OXYGEN METABOLITE; SHORT HAIRPIN RNA; UNCLASSIFIED DRUG; APOPTOSIS REGULATORY PROTEIN; MITOCHONDRIAL PROTEIN;

ADOLESCENT DISEASE; AMINO TERMINAL SEQUENCE; ARTICLE; CELL VIABILITY; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYTOCHROME C OXIDASE DEFICIENCY; DISEASE COURSE; DISEASE SEVERITY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; EXOME; FEMALE; FIBROBLAST; FIBROBLAST CULTURE; GENE MUTATION; HEMISPHERE; HUMAN; IMAGE ANALYSIS; ITALIAN (CITIZEN); LEUKODYSTROPHY; LEUKOENCEPHALOPATHY; MALE; MITOCHONDRIAL TARGETING SIGNAL; MUTANT; MYOBLAST; NEUROIMAGING; NEUROLOGIC DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN LOCALIZATION; SEQUENCE ANALYSIS; WILD TYPE; ADOLESCENT; ADULT; CELL CULTURE; ENZYMOLOGY; GENETICS; INFANT; METABOLISM; MITOCHONDRION; MUTATION; PATHOLOGY;

ADOLESCENT; ADULT; APOPTOSIS REGULATORY PROTEINS; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CYTOCHROME-C OXIDASE DEFICIENCY; ELECTRON TRANSPORT COMPLEX IV; FEMALE; FIBROBLASTS; HUMANS; INFANT; LEUKOENCEPHALOPATHIES; MAGNETIC RESONANCE IMAGING; MALE; MITOCHONDRIA; MITOCHONDRIAL PROTEINS; MUTATION; MYOBLASTS;

EID: 84908254396     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.08.003     Document Type: Article

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