Mistargeting of SH3TC2 away from the recycling endosome causes Charcot-Marie-Tooth disease type 4C

Human Molecular Genetics

Volumn 19, Issue 6, 2010, Pages 1009-1018

  Roberts, Rhys C ^a   Peden, Andrew A ^a   Buss, Folma ^a   Bright, Nicholas A ^a   Latouche, Morwena ^b   Reilly, Mary M ^c   Kendrick Jones, John ^d   Paul Luzio, J ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d MRC LABORATORY OF MOLECULAR BIOLOGY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; RAB11 PROTEIN; SH3 DOMAIN AND TETRATRICOPEPTIDE REPEAT 2 PROTEIN; TRANSFERRIN RECEPTOR; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CELL MEMBRANE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ENDOSOME; GENE MUTATION; GENE TARGETING; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; MUTANT; NONHUMAN; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PROTEIN INTERACTION; RAT; SCHWANN CELL; WILD TYPE;

ANIMALS; BLOTTING, WESTERN; CELL EXTRACTS; CELL MEMBRANE; CHARCOT-MARIE-TOOTH DISEASE; ENDOCYTOSIS; ENDOSOMES; FLOW CYTOMETRY; FLUORESCENT ANTIBODY TECHNIQUE; GREEN FLUORESCENT PROTEINS; HELA CELLS; HUMANS; INTRACELLULAR SPACE; MICROSCOPY, CONFOCAL; MUTANT PROTEINS; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT; PROTEINS; RATS; RECEPTORS, TRANSFERRIN;

EID: 77950620209     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp565     Document Type: Article

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