Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane

Kidney International

Volumn 66, Issue 5, 2004, Pages 1755-1765

  Nishibori, Yukino ^b   Liu, Li ^b   Hosoyamada, Makoto ^b   Endou, Hitoshi ^b   Kudo, Akihiko ^b   Takenaka, Hitoshi ^b   Higashihara, Eiji ^b   Bessho, Fumio ^b   Takahashi, Shori ^b   Kershaw, David ^b   Ruotsalainen, Vesa ^b   Tryggvason, Karl ^b   Khoshnoodi, Jamshid ^b   Yan, Kunimasa ^a  

^a KYORIN UNIVERSITY   (Japan)

^b NONE

Author keywords

Missense mutation; Nephrin; Podocin; Protein traffic

Indexed keywords

COMPLEMENTARY DNA; NEPHRIN; PODOCIN; MEMBRANE PROTEIN; PROTEIN; SIGNAL PEPTIDE; STEROID;

AMINO TERMINAL SEQUENCE; ANTIBODY SPECIFICITY; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CARBOXY TERMINAL SEQUENCE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IMMUNOBLOTTING; IMMUNOELECTRON MICROSCOPY; IMMUNOPRECIPITATION; MISSENSE MUTATION; MOLECULAR INTERACTION; NEPHROTIC SYNDROME; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN LOCALIZATION; PROTEINURIA; SITE DIRECTED MUTAGENESIS; WILD TYPE; CELL FRACTIONATION; CELL LINE; CELL MEMBRANE; DRUG RESISTANCE; GENETICS; IMMUNOLOGICAL PROCEDURES; KIDNEY; METABOLISM; PROTEIN TRANSPORT; RECESSIVE GENE; TISSUE DISTRIBUTION;

CELL LINE; CELL MEMBRANE; DRUG RESISTANCE; GENES, RECESSIVE; HUMANS; IMMUNOLOGIC TECHNIQUES; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; KIDNEY; MEMBRANE PROTEINS; MICROSCOPY, IMMUNOELECTRON; MUTATION, MISSENSE; NEPHROTIC SYNDROME; PROTEIN TRANSPORT; PROTEINS; STEROIDS; SUBCELLULAR FRACTIONS; TISSUE DISTRIBUTION; TRANSFECTION;

EID: 11444261852     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1523-1755.2004.00898.x     Document Type: Article

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