Exome sequence reveals mutations in CoA synthase as a cause of neurodegeneration with brain iron accumulation

American Journal of Human Genetics

Volumn 94, Issue 1, 2014, Pages 11-22

  Dusi, Sabrina ^a   Valletta, Lorella ^a   Haack, Tobias B ^b,c   Tsuchiya, Yugo ^d   Venco, Paola ^a   Pasqualato, Sebastiano ^e   Goffrini, Paola ^f   Tigano, Marco ^f   Demchenko, Nikita ^d   Wieland, Thomas ^c   Schwarzmayr, Thomas ^c   Strom, Tim M ^b,c   Invernizzi, Federica ^a   Garavaglia, Barbara ^a   Gregory, Allison ^g   Sanford, Lynn ^g   Hamada, Jeffrey ^g   Bettencourt, Conceição ^h   Houlden, Henry ^h   Chiapparini, Luisa ^a   Zorzi, Giovanna ^a   Kurian, Manju A ⁱ   Nardocci, Nardo ^a   Prokisch, Holger ^b,c   Hayflick, Susan ^g   Gout, Ivan ^d   Tiranti, Valeria ^a   more..

^a DEPARTMENT OF NEUROSURGERY   (Italy)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e Crystallography Unit   (Italy)

^f UNIVERSITY OF PARMA   (Italy)

^g OREGON HEALTH AND SCIENCE UNIVERSITY   (United States)

^h NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

ⁱ GREAT ORMOND STREET HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; COENZYME A; COENZYME A SYNTHETASE; IRON; PANTETHEINE PHOSPHATE; UNCLASSIFIED DRUG; COENZYME A SYNTHASE; RNA; SYNTHETASE;

ADULT; AMINO ACID SUBSTITUTION; ANTIBODY SPECIFICITY; ARTICLE; CATALYSIS; CROSS REACTION; ENZYME SYNTHESIS; EXOME; EXON; FEMALE; GENE EXPRESSION; GENE SEGREGATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MITOCHONDRIAL MEMBRANE; MITOCHONDRION; NERVE CONDUCTION; NEURODEGENERATION WITH BRAIN IRON ACCUMULATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEPHOSPHORYLATION; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; SEQUENCE ANALYSIS; SKIN FIBROBLAST; STOP CODON; BIOSYNTHESIS; CONTROLLED STUDY; FIBROBLAST; GENE MUTATION; GENETIC ANALYSIS; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; NONHUMAN; SACCHAROMYCES CEREVISIAE;

EID: 84891835067     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.11.008     Document Type: Article

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