Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies

Neuromuscular Disorders

Volumn 18, Issue 1, 2008, Pages 45-51

  Manya, Hiroshi ^a   Bouchet, Céline ^b   Yanagisawa, Akiko ^c,d   Vuillaumier Barrot, Sandrine ^b   Quijano Roy, Susana ^c,d,e   Suzuki, Yasushi ^f   Maugenre, Svetlana ^c,d   Richard, Pascale ^c,d,g   Inazu, Toshiyuki ^f   Merlini, Luciano ^h   Romero, Norma B ^c,d   Leturcq, France ⁱ   Bezier, Isabelle ^j   Topaloglu, Haluk ^k   Estournet, Brigitte ^e   Seta, Nathalie ^b   Endo, Tamao ^a   Guicheney, Pascale ^c,d,g  

^a TOKYO METROPOLITAN INSTITUTE OF GERONTOLOGY   (Japan)

^b BICHAT HOSPITAL   (France)

^c INSERM   (France)

^d SORBONNE UNIVERSITÉ   (France)

^e RAYMOND POINCARÉ HOSPITAL   (France)

^f TOKAI UNIVERSITY   (Japan)

^g PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^h Muscle Unit   (Italy)

ⁱ Muscle Unit ^*  (France)

^j GÉNÉTHON   (France)

^k HACETTEPE UNIVERSITY   (Turkey)

more..

Author keywords

Congenital muscular dystrophy; Enzyme activity; POMGnT1; POMT1; POMT2

Indexed keywords

ALPHA DYSTROGLYCAN; MANNOSYLTRANSFERASE; O MANNOSE BETA1,2 N ACETYLGLUCOSAMINYLTRANSFERASE 1; UNCLASSIFIED DRUG;

ALLELE; ALPHA DYSTROGLYCANOPATHY; ARTICLE; CELL IMMORTALIZATION; CLINICAL ARTICLE; CONTROLLED STUDY; ENZYMATIC ASSAY; ENZYME ACTIVITY; GENE EXPRESSION; GENE MUTATION; HUMAN; HUMAN CELL; LYMPHOBLAST; MUSCULAR DYSTROPHY; PHENOTYPE; PRIORITY JOURNAL;

BIOLOGICAL ASSAY; CELL LINE, TRANSFORMED; CELLS, CULTURED; DNA MUTATIONAL ANALYSIS; DOWN-REGULATION; DYSTROGLYCANS; ENZYME ACTIVATION; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENETIC MARKERS; GENETIC SCREENING; HEMATOPOIETIC STEM CELLS; HUMANS; ISOENZYMES; LYMPHOCYTES; MANNOSYLTRANSFERASES; MUSCULAR DYSTROPHIES; MUTATION; N-ACETYLGLUCOSAMINYLTRANSFERASES; PREDICTIVE VALUE OF TESTS;

EID: 38749138169     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2007.08.002     Document Type: Article

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