A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2

Human Molecular Genetics

Volumn 25, Issue 11, 2016, Pages 2182-2193

  Chan, Barden ^a   Clasquin, Michelle ^a   Smolen, Gromoslaw A ^a   Histen, Gavin ^a   Powe, Josh ^a   Chen, Yue ^a   Lin, Zhizhong ^b   Lu, Chenming ^c   Liu, Yan ^c   Cang, Yong ^c,d   Yan, Zhonghua ^e   Xia, Yuanfeng ^e   Thompson, Ryan ^f   Singleton, Chris ^a   Dorsch, Marion ^a   Silverman, Lee ^a   Michael Su1, Shin San ^a   Freeze, Hudson H ^g   Jin, Shengfang ^a  

^a AGIOS PHARMACEUTICALS   (United States)

^b XIAMEN UNIVERSITY   (China)

^c WUXI APPTEC   (China)

^d ZHEJIANG UNIVERSITY   (China)

^e HD Biosciences Co Ltd   (China)

^f LGC   (United Kingdom)

^g BURNHAM INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTITHROMBIN III; BIOLOGICAL MARKER; GLYCOPROTEIN; GUANOSINE DIPHOSPHATE MANNOSE; OLIGOSACCHARIDE; PHOSPHOMANNOMUTASE; SOMATOMEDIN BINDING PROTEIN 3; SOMATOMEDIN C; GLYCOPROTEIN GP 130; IL6ST PROTEIN, MOUSE; MANNOSE; MUTASE; PMM2 PROTEIN, MOUSE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONGENITAL DISORDER OF GLYCOSYLATION; CONTROLLED STUDY; FIBROBLAST; MOUSE; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN EXPRESSION; PROTEIN GLYCOSYLATION; PROTEIN ISOLATION; ANIMAL; BIOSYNTHESIS; DISEASE MODEL; GENE EXPRESSION REGULATION; GENETICS; GENOTYPE; GLYCOSYLATION; HUMAN; METABOLISM; MUTATION; PATHOLOGY;

ANIMALS; BIOMARKERS; CONGENITAL DISORDERS OF GLYCOSYLATION; CYTOKINE RECEPTOR GP130; DISEASE MODELS, ANIMAL; FIBROBLASTS; GENE EXPRESSION REGULATION; GENOTYPE; GLYCOSYLATION; HUMANS; MANNOSE; MICE; MUTATION; PHOSPHOTRANSFERASES (PHOSPHOMUTASES);

EID: 84999014783     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddw085     Document Type: Article

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