A human-specific deletion in mouse Cmah increases disease severity in the mdx model of duchenne muscular dystrophy

Science Translational Medicine

Volumn 2, Issue 42, 2010, Pages

  Chandrasekharan, Kumaran ^a   Yoon, Jung Hae ^a   Xu, Ying ^b   DeVries, Sarah ^a   Camboni, Marybeth ^a   Janssen, Paulus M L ^b   Varki, Ajit ^c   Martin, Paul T ^a,b  

^a THE RESEARCH INSTITUTE AT NATIONWIDE CHILDREN S HOSPITAL   (United States)

^b THE OHIO STATE UNIVERSITY COLLEGE OF MEDICINE   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTIDINE MONOPHOSPHATE SIALIC ACID HYDROXYLASE; DYSTROPHIN; GLYCOPROTEIN; OXYGENASE; UNCLASSIFIED DRUG; CMPACETYLNEURAMINATE MONOOXYGENASE; MIXED FUNCTION OXIDASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BREATHING MUSCLE; CELL STRAIN HEK293; COMPLEMENT ACTIVATION; CONTROLLED STUDY; CYTIDINE MONOPHOSPHATE SIALIC ACID HYDROXYLASE GENE; DISEASE SEVERITY; DUCHENNE MUSCULAR DYSTROPHY; FEMALE; GENE; GENE DELETION; HEART MUSCLE; HUMAN; HUMAN CELL; LIFESPAN; MALE; MORBIDITY; MORTALITY; MOTOR DYSFUNCTION; MOUSE; MUSCLE WEAKNESS; NONHUMAN; PATHOGENESIS; PHENOTYPIC VARIATION; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; SIALYLATION; SKELETAL MUSCLE; ANIMAL; ANIMAL MUSCULAR DYSTROPHY; GENETICS; HOSPITALIZATION; MOUSE MUTANT; PATHOLOGY; X CHROMOSOME LINKED MUSCULAR DYSTROPHIC MOUSE;

ANIMALS; HUMANS; MICE; MICE, INBRED MDX; MICE, MUTANT STRAINS; MIXED FUNCTION OXYGENASES; MUSCULAR DYSTROPHY, ANIMAL; MUSCULAR DYSTROPHY, DUCHENNE; SEVERITY OF ILLNESS INDEX;

EID: 77955634766     PISSN: 19466234     EISSN: 19466242     Source Type: Journal    
DOI: 10.1126/scitranslmed.3000692     Document Type: Article

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136. -/- mice, provided and characterized the Neu5Gc-specific reagents, and analyzed sialic acid content and profiles. P.M.L.J. and Y.X. performed and analyzed all cardiac and skeletal muscle physiology studies. Competing interests: A.V. is a board member and co-founder of Sialix Inc. (formerly Gc-Free Inc.), a biotech company focused on developing therapeutics related to sialic acid. None of the other authors have any competing interests to declare. Accession numbers: Array data are available from the Gene Expression Omnibus repository (http://www.ncbi.nlm.nih.gov/geo) under accession numbers GSM413160 to GSM413182.