Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease

Journal of Inherited Metabolic Disease

Volumn 36, Issue 5, 2013, Pages 841-847

  Ferrer Cortès, Xènia ^a   Font, Aida ^a   Bujan, Núria ^a   Navarro Sastre, Aleix ^a,b   Matalonga, Leslie ^a   Arranz, José Antonio ^c   Riudor, Encarnació ^c   Del Toro, Mireia ^c   Garcia Cazorla, Angels ^b,d   Campistol, Jaume ^b,d   Briones, Paz ^a,b,e   Ribes, Antonia ^a,b   Tort, Frederic ^a,b  

^a HOSPITAL CLÍNIC   (Spain)

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

^c UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^d HOSPITAL SANT JOAN DE DÉU   (Spain)

^e CSIC   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; CYSTEINE; GLYCINE; IRON SULFUR PROTEIN; PROTEIN NFU1; SUCCINATE DEHYDROGENASE (UBIQUINONE); THIOCTIC ACID; UBIQUINOL CYTOCHROME C REDUCTASE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BIOSYNTHESIS; CHILD; COFACTOR DISORDERS OF MITOCHONDRIAL ENERGY METABOLISM; CONTROLLED STUDY; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENZYME ACTIVITY; FIBROBLAST; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; INFANT; LIPOYLATION; NATIVE POLYACRYLAMIDE GEL ELECTROPHORESIS; NEWBORN; PATHOPHYSIOLOGY; PRESCHOOL CHILD; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; RESPIRATORY CHAIN; SCHOOL CHILD; TISSUE DISTRIBUTION;

CARRIER PROTEINS; ELECTRON TRANSPORT; FIBROBLASTS; GENOTYPE; HOMOZYGOTE; HUMANS; INFANT; MITOCHONDRIA; MITOCHONDRIAL DISEASES; MUTATION, MISSENSE; PROTEIN BIOSYNTHESIS; PROTEINS; THIOCTIC ACID; TRANSCRIPTOME;

EID: 84884355744     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-012-9565-z     Document Type: Article

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