Implication of phosphoinositide phosphatases in genetic diseases: The case of myotubularin

Cellular and Molecular Life Sciences

Volumn 60, Issue 10, 2003, Pages 2084-2099

  Tronchere H ^a   Buj Bello, A ^b   Mandel, J L ^b   Payrastre, B ^a  

^a CHU PURPAN   (France)

^b UNIVERSITÉ DE STRASBOURG   (France)

Author keywords

Charcot Marie Tooth disease; Myotubular myopathy; Myotubularin; Phosphoinositide phosphatase; Phosphoinositides

Indexed keywords

DESMIN; GENE PRODUCT; MYOSIN; MYOTUBULARIN; NERVE CELL ADHESION MOLECULE; PHOSPHATASE; PHOSPHATIDYLINOSITIDE; PHOSPHATIDYLINOSITIDE PHOSPHATASE; PHOSPHATIDYLINOSITOL 3 PHOSPHATE; POLYPHOSPHOINOSITIDE; RAB PROTEIN; RAC1 PROTEIN; UNCLASSIFIED DRUG; VIMENTIN;

CELLULAR DISTRIBUTION; CENTRONUCLEAR MYOPATHY; CHROMOSOME XQ; GENE MUTATION; GENETIC DISORDER; GENOTYPE; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; NONHUMAN; PHENOTYPE; PHOSPHOINOSITIDE METABOLISM; PROTEIN DOMAIN; PROTEIN LOCALIZATION; PROTEIN TARGETING; PROTEIN TRANSPORT; REVIEW; X CHROMOSOME RECESSIVE DISORDER;

ANIMALS; CYTOPLASMIC VESICLES; DISEASE MODELS, ANIMAL; MICE; MICE, KNOCKOUT; MYOPATHIES, STRUCTURAL, CONGENITAL; PHOSPHATIDYLINOSITOLS; PROTEIN-TYROSINE-PHOSPHATASE;

EUKARYOTA;

EID: 0242351932     PISSN: 1420682X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00018-003-3062-3     Document Type: Review

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