Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway

Human Molecular Genetics

Volumn 18, Issue 23, 2009, Pages 4603-4614

  Lupo, Vincenzo ^a,b   Galindo, Máximo I ^a,b   Martínez Rubio, Dolores ^a,b   Sevilla, Teresa ^c,d   Vílchez, Juan J ^c,d   Palau, Francesc ^a,b   Espinós, Carmen ^b  

^a CSIC   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL UNIVERSITARIO LA FE   (Spain)

^d CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

CELL MEMBRANE PROTEIN; GENE PRODUCT; GLYCINE; PROTEIN SH3; PROTEIN SH3TC2; PROTEIN TPR; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; CELL MEMBRANE TRANSPORT; COATED VESICLE; CONTROLLED STUDY; ENDOSOME; HEREDITARY MOTOR SENSORY NEUROPATHY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; MYELINATION; MYRISTYLATION; NERVE FIBER; NONHUMAN; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SCHWANN CELL; SIGNAL TRANSDUCTION; STOP CODON; TRANS GOLGI NETWORK; WILD TYPE;

CELL MEMBRANE; CHARCOT-MARIE-TOOTH DISEASE; CLATHRIN-COATED VESICLES; ENDOCYTOSIS; ENDOSOMES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; HUMANS; MALE; MUTATION, MISSENSE; PROTEIN STRUCTURE, TERTIARY; PROTEIN TRANSPORT; PROTEINS;

EID: 70449356628     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp427     Document Type: Article

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