Cellular characterization of MPZ mutations presenting with diverse clinical phenotypes

Journal of Neurology

Volumn 257, Issue 10, 2010, Pages 1661-1668

  Lee, Yi Chung ^a,b   Lin, Kon Ping ^a,b   Chang, Ming Hong ^a,c   Liao, Yi Chu ^a,c   Tsai, Ching Piao ^a,b   Liao, Kwong Kum ^a,b   Soong, Bing Wen ^a,b  

^a NATIONAL YANG MING UNIVERSITY   (Taiwan)

^b TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^c TAICHUNG VETERANS GENERAL HOSPITAL   (Taiwan)

Author keywords

Charcot Marie Tooth disease; CMT1; CMT2; Dejerine Sotta syndrome; MPZ

Indexed keywords

GLYCOPROTEIN; MUTANT PROTEIN; MYELIN PROTEIN ZERO; UNCLASSIFIED DRUG; ENHANCED GREEN FLUORESCENT PROTEIN; GREEN FLUORESCENT PROTEIN; MYELIN PROTEIN;

ANIMAL CELL; ARTICLE; CELL ADHESION; CELL MEMBRANE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; ENVIRONMENTAL FACTOR; GENE MUTATION; GENETIC TRANSFECTION; GOLGI COMPLEX; HEREDITARY MOTOR SENSORY NEUROPATHY; HEREDITY; HUMAN; IN VITRO STUDY; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; ANIMAL; CHEMICAL STRUCTURE; CHEMISTRY; CHO CELL; CRICETULUS; GENETICS; HAMSTER; METABOLISM; MUTATION; TIME; ULTRASTRUCTURE;

ANIMALS; CELL ADHESION; CHARCOT-MARIE-TOOTH DISEASE; CHO CELLS; CRICETINAE; CRICETULUS; ENDOPLASMIC RETICULUM; GOLGI APPARATUS; GREEN FLUORESCENT PROTEINS; HUMANS; MODELS, MOLECULAR; MUTATION; MYELIN P0 PROTEIN; PHENOTYPE; TIME FACTORS; TRANSFECTION;

EID: 79952277169     PISSN: 03405354     EISSN: 14321459     Source Type: Journal    
DOI: 10.1007/s00415-010-5590-8     Document Type: Article

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