3D mapping of glycogenosis-causing mutations in the large regulatory alpha subunit of phosphorylase kinase

Biochimica et Biophysica Acta - Molecular Basis of Disease

Volumn 1782, Issue 11, 2008, Pages 664-670

  Carrière, Cathelène ^a,b,c,d   Jonic, Slavica ^a,b,c,d   Mornon, Jean Paul ^a,b,c,d   Callebaut, Isabelle ^a,b,c,d  

^a UNIVERSITÉ PIERRE ET MARIE CURIE   (France)

^b CNRS   (France)

^c UNIVERSITÉ PARIS DESCARTES   (France)

^d INSTITUT DE PHYSIQUE DU GLOBE DE PARIS   (France)

Author keywords

Glycogen storage disease; Molecular modeling; Phosphorylase kinase; Phosphorylase kinase deficiency; X linked liver Glycogenosis

Indexed keywords

CALCINEURIN; GLUCAN 1,4 ALPHA GLUCOSIDASE; GLYCOSIDE; PHOSPHORYLASE KINASE;

ALPHA CHAIN; AMINO TERMINAL SEQUENCE; ARTICLE; BINDING SITE; ENZYME SUBSTRATE; GENE CLUSTER; GENE DELETION; GENE INSERTION; GENE MUTATION; GLYCOGEN STORAGE DISEASE; HYDROLYSIS; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; PROTEIN FUNCTION; PROTEIN INTERACTION;

AMINO ACID SEQUENCE; DNA MUTATIONAL ANALYSIS; GLYCOGEN STORAGE DISEASE; HUMANS; ISOENZYMES; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION; PHOSPHORYLASE KINASE; PROTEIN CONFORMATION; PROTEIN SUBUNITS; SEQUENCE ALIGNMENT;

EID: 55249084490     PISSN: 09254439     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbadis.2008.09.011     Document Type: Article

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