A PTG variant contributes to a Milder Phenotype in Lafora disease

PLoS ONE

Volumn 6, Issue 6, 2011, Pages

  Guerrero, Rosa ^a   Vernia, Santiago ^b   Sanz, Raúl ^a   Abreu Rodríguez, Irene ^c   Almaraz, Carmen ^a   García Hoyos, María ^b   Michelucci, Roberto ^d   Tassinari, Carlo Alberto ^f   Riguzzi, Patrizia ^d   Nobile, Carlo ^e   Sanz, Pascual ^b   Serratosa, José M ^a   Gómez Garre, Pilar ^a,c  

^a UAM)   (Spain)

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

^c Instituto de Biomedicina de Sevilla   (Spain)

^d BELLARIA HOSPITAL   (Italy)

^e CNR   (Italy)

^f UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DUAL SPECIFICITY PHOSPHATASE; GLYCOGEN PHOSPHORYLASE; GLYCOGEN SYNTHASE; LAFORIN PROTEIN; PHOSPHOPROTEIN PHOSPHATASE; PROTEIN TARGETING TO GLYCOGEN; UNCLASSIFIED DRUG; CARRIER PROTEIN; PHOSPHOPROTEIN PHOSPHATASE 1; PPP1R3C PROTEIN, HUMAN; SMALL INTERFERING RNA;

ARTICLE; CELL COMPOSITION; CONTROLLED STUDY; DISEASE COURSE; EMBRYO; EMP2A GENE; EMP2B GENE; ENZYME ACTIVITY; FAMILIAL DISEASE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; GENOTYPE; GLYCOGEN SYNTHESIS; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; PHENOTYPIC VARIATION; PPP1R3C GENE; PROTEIN INTERACTION; REPORTER GENE; SINGLE NUCLEOTIDE POLYMORPHISM; ADULT; CELL STRAIN HEK293; FEMALE; GENETICS; HAPLOTYPE; METABOLISM; MUTATION; PATHOLOGY; SITE DIRECTED MUTAGENESIS; TUMOR CELL LINE; TWO HYBRID SYSTEM; WESTERN BLOTTING;

ADULT; BLOTTING, WESTERN; CARRIER PROTEINS; CELL LINE, TUMOR; FEMALE; GENOTYPE; HAPLOTYPES; HEK293 CELLS; HUMANS; LAFORA DISEASE; MUTAGENESIS, SITE-DIRECTED; MUTATION; PHOSPHOPROTEIN PHOSPHATASES; PROTEIN PHOSPHATASE 1; RNA, SMALL INTERFERING; TWO-HYBRID SYSTEM TECHNIQUES; YOUNG ADULT;

EID: 79959796096     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0021294     Document Type: Article

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