Mendelian disorders of PI metabolizing enzymes

Biochimica et Biophysica Acta - Molecular and Cell Biology of Lipids

Volumn 1851, Issue 6, 2015, Pages 867-881

  Staiano, Leopoldo ^a   De Leo, Maria Giovanna ^a   Persico, Maria ^a   De Matteis, Maria Antonietta ^a  

^a TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

Genetic disease; Lowe syndrome; OCRL; Phosphoinositide; PI kinase; PI phosphatase

Indexed keywords

PHOSPHATASE; PHOSPHATIDYLINOSITOL; PHOSPHATIDYLINOSITOL 3 KINASE; SIGNAL PEPTIDE;

ANIMAL; BONE DYSPLASIA; DISEASE MODEL; ENZYMOLOGY; GENE EXPRESSION; GENETICS; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; LIMB MALFORMATION; METABOLISM; MOUSE; MUTATION; MYOPATHY; PATHOLOGY;

ANIMALS; BONE DISEASES, DEVELOPMENTAL; DISEASE MODELS, ANIMAL; GENE EXPRESSION; HEREDITARY SENSORY AND MOTOR NEUROPATHY; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; LIMB DEFORMITIES, CONGENITAL; MICE; MUTATION; MYOPATHIES, STRUCTURAL, CONGENITAL; PHOSPHATIDYLINOSITOL 3-KINASES; PHOSPHATIDYLINOSITOLS; PHOSPHORIC MONOESTER HYDROLASES;

EID: 84939943026     PISSN: 13881981     EISSN: 18792618     Source Type: Journal    
DOI: 10.1016/j.bbalip.2014.12.001     Document Type: Review

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