Non-specific accumulation of glycosphingolipids in GNE myopathy

Journal of Inherited Metabolic Disease

Volumn 37, Issue 2, 2014, Pages 297-308

  Patzel, Katherine A ^a,b   Yardeni, Tal ^b,c   Le Poëc Celic, Erell ^d   Leoyklang, Petcharat ^b   Dorward, Heidi ^b   Alonzi, Dominic S ^a   Kukushkin, Nikolay V ^a   Xu, Bixue ^e   Zhang, Yongmin ^e   Sollogoub, Matthieu ^e   Blériot, Yves ^e,f   Gahl, William A ^b,g   Huizing, Marjan ^b   Butters, Terry D ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^c TEL AVIV UNIVERSITY   (Israel)

^d INSA   (France)

^e SORBONNE UNIVERSITÉ   (France)

^f UNIVERSITÉ DE POITIERS   (France)

^g NATIONAL INSTITUTES OF HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLYCOSPHINGOLIPID; IMINOSUGAR; N ACETYLMANNOSAMINE; SIALIC ACID DERIVATIVE; UNCLASSIFIED DRUG; URIDINE DIPHOSPHATE N ACETYLGLUCOSAMINE 2 EPIMERASE; HEXOSAMINE; MULTIENZYME COMPLEX; N ACETYLNEURAMINIC ACID; N-ACETYLMANNOSAMINE; UDP-N-ACETYLGLUCOSAMINE 2-EPIMERASE - N-ACETYLMANNOSAMINE KINASE;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CARBOHYDRATE SYNTHESIS; CONTROLLED STUDY; FEMALE; FIBROBLAST; GNE MYOPATHY; HUMAN; HUMAN CELL; LIPID STORAGE; MOUSE; MYOPATHY; NONHUMAN; NUCLEOTIDE SEQUENCE; REVERSED PHASE HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; SIALYLATION; ANIMAL; BLOOD; C57BL MOUSE; CASE CONTROL STUDY; CELL CULTURE; GENETICS; METABOLISM; MUSCLE; MUSCLE DISEASE; MUTATION;

ANIMALS; CASE-CONTROL STUDIES; CELLS, CULTURED; FEMALE; FIBROBLASTS; GLYCOSPHINGOLIPIDS; HEXOSAMINES; HUMANS; MICE; MICE, INBRED C57BL; MULTIENZYME COMPLEXES; MUSCLES; MUSCULAR DISEASES; MUTATION; N-ACETYLNEURAMINIC ACID;

EID: 84904384387     PISSN: 01418955     EISSN: 15732665     Source Type: Journal    
DOI: 10.1007/s10545-013-9655-6     Document Type: Article

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