Pathogenic mechanism of the FIG4 mutation responsible for charcot-marie-tooth disease CMT4J

PLoS Genetics

Volumn 7, Issue 6, 2011, Pages

  Lenk, Guy M ^a   Ferguson, Cole J ^a   Chow, Clement Y ^a,c   Jin, Natsuko ^b   Jones, Julie M ^a   Grant, Adrienne E ^a   Zolov, Sergey N ^b   Winters, Jesse J ^b   Giger, Roman J ^a,b   Dowling, James J ^a   Weisman, Lois S ^b   Meisler, Miriam H ^a  

^a UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c Department of Obstetrics Gynecology   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; MUTANT PROTEIN; PHOSPHATASE; PROTEIN FIG4; PROTEIN VAC 14; SCAFFOLD PROTEIN; UNCLASSIFIED DRUG; FIG4 PROTEIN, MOUSE; FLAVOPROTEIN; PROTEASOME; SIGNAL PEPTIDE; VAC14 PROTEIN, MOUSE;

AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CELL LEVEL; CHARCOT MARIE TOOTH DISEASE TYPE 4J; CONTROLLED STUDY; FIBROBLAST; FIG I41T TRANSGENE; HEREDITARY MOTOR SENSORY NEUROPATHY; HISTOLOGY; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; MISSENSE MUTATION; MOUSE; MYELINATION; NERVE CONDUCTION; NONHUMAN; PATHOGENESIS; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; PROTEIN STABILITY; SCIATIC NERVE; TRANSGENE; WESTERN BLOTTING; WILD TYPE; ALLELE; ANIMAL; AUTOPHAGY; DRUG ANTAGONISM; GENETIC TRANSFECTION; GENETICS; GLIOSIS; METABOLISM; MUTATION; TRANSGENIC MOUSE;

MUS;

ALLELES; ANIMALS; AUTOPHAGY; CHARCOT-MARIE-TOOTH DISEASE; FIBROBLASTS; FLAVOPROTEINS; GLIOSIS; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MICE; MICE, TRANSGENIC; MODELS, ANIMAL; MUTATION; PROTEASOME ENDOPEPTIDASE COMPLEX; TRANSFECTION;

EID: 79959850951     PISSN: 15537390     EISSN: 15537404     Source Type: Journal    
DOI: 10.1371/journal.pgen.1002104     Document Type: Article

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