A novel PtdIns3P and PtdIns(3,5)P2 phosphatase with an inactivating variant in centronuclear myopathy

Human Molecular Genetics

Volumn 15, Issue 21, 2006, Pages 3098-3106

  Tosch, Valérie ^a   Rohde, Holger M ^a   Tronchère, Hélène ^b   Zanoteli, Edmar ^c   Monroy, Nancy ^a   Kretz, Christine ^a   Dondaine, Nicolas ^d   Payrastre, Bernard ^b   Mandel, Jean Louis ^a,d,e   Laporte, Jocelyn ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

^b CHU PURPAN   (France)

^c FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^d UNIVERSITY HOSPITAL OF STRASBOURG   (France)

^e l'alimentation et l'Environnement   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; DYNAMIN II; MYOTUBULARIN; PHOSPHATASE; PHOSPHATIDYLINOSITOL 3 PHOSPHATE; PROTEIN JUMPY; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CENTRONUCLEAR MYOPATHY; CONTROLLED STUDY; ENZYME ACTIVE SITE; ENZYME ACTIVITY; ENZYME SPECIFICITY; EX VIVO STUDY; FEMALE; GENE IDENTIFICATION; GENETIC CONSERVATION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IN VITRO STUDY; MALE; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN DEPHOSPHORYLATION; PROTEIN FUNCTION; RECESSIVE INHERITANCE;

AMINO ACID SEQUENCE; ANIMALS; ARGININE; CATALYTIC DOMAIN; CELL LINE; CERCOPITHECUS AETHIOPS; CHROMOSOMES, HUMAN, PAIR 3; COS CELLS; FEMALE; GENETIC VARIATION; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCLE, SKELETAL; MUTATION, MISSENSE; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE; PHOSPHATIDYLINOSITOL PHOSPHATES; PHOSPHORIC MONOESTER HYDROLASES; PROTEIN STRUCTURE, TERTIARY; PROTEIN TYROSINE PHOSPHATASES; PROTEIN TYROSINE PHOSPHATASES, NON-RECEPTOR; PROTEIN-TYROSINE-PHOSPHATASE; SEQUENCE ALIGNMENT; TRANSFECTION; VARIATION (GENETICS);

EUKARYOTA;

EID: 33750219395     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddl250     Document Type: Article

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