A dominant negative heterozygous G87R mutation in the zinc transporter, ZnT-2 (SLC30A2), results in transient neonatal zinc deficiency

Journal of Biological Chemistry

Volumn 287, Issue 35, 2012, Pages 29348-29361

  Lasry, Inbal ^a   Seo, Young Ah ^b   Ityel, Hadas ^c,d   Shalva, Nechama ^c   Pode Shakked, Ben ^c   Glaser, Fabian ^a   Berman, Bluma ^a   Berezovsky, Igor ^e   Goncearenco, Alexander ^e   Klar, Aharon ^f   Levy, Jacob ^g   Anikster, Yair ^c,d   Kelleher, Shannon L ^b   Assaraf, Yehuda G ^a  

^a TECHNION ISRAEL INSTITUTE OF TECHNOLOGY   (Israel)

^b PENNSYLVANIA STATE UNIVERSITY   (United States)

^c SHEBA MEDICAL CENTER   (Israel)

^d TEL AVIV UNIVERSITY   (Israel)

^e UNIVERSITY OF BERGEN   (Norway)

^f BIKUR CHOLIM HOSPITAL   (Israel)

^g BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE RESIDUE; CO-TRANSFECTIONS; DOMINANT NEGATIVE; FUNCTIONAL ASSAYS; HOMODIMERIZATION; HOMODIMERS; HOMOLOGY MODELING; IMMUNOPRECIPITATIONS; MCF-7 CELLS; MEMBRANE LIPIDS; MISFOLDING; MISLOCALIZATION; NORMAL GROWTH; SECRETORY VESICLES; TRANSFECTANTS; TRANSIENT TRANSFECTION; WESTERN-BLOT ANALYSIS; ZINC ACCUMULATION; ZINC DEFICIENCY; ZINC TRANSPORT; ZINC TRANSPORTERS;

AMINO ACIDS; CELL MEMBRANES; ESCHERICHIA COLI; EXPERIMENTS; MOLECULAR BIOLOGY; THREE DIMENSIONAL; ZINC METALLOGRAPHY;

ZINC;

HOMODIMER; PROTEIN SLC30A2; UNCLASSIFIED DRUG; ZINC TRANSPORTER; ZINC TRANSPORTER 2;

ANIMAL CELL; ARTICLE; BIOACCUMULATION; CELLULAR DISTRIBUTION; CONTROLLED STUDY; CRYSTAL STRUCTURE; DIMERIZATION; ENDOPLASMIC RETICULUM; FEMALE; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENE SEQUENCE; GENETIC CONSERVATION; GENETIC STABILITY; GENETIC TRANSFECTION; GOLGI COMPLEX; HETEROZYGOSITY; HUMAN; HUMAN CELL; IMMUNOPRECIPITATION; INFANT; LOSS OF FUNCTION MUTATION; MALE; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN MOTIF; RESIDUE ANALYSIS; SECRETORY VESICLE; STRUCTURAL HOMOLOGY; WESTERN BLOTTING; WILD TYPE; ZINC DEFICIENCY; ZNT 2 GENE;

AMINO ACID SUBSTITUTION; CATION TRANSPORT PROTEINS; CELL LINE, TUMOR; CYTOPLASM; ENDOPLASMIC RETICULUM; ESCHERICHIA COLI; ESCHERICHIA COLI PROTEINS; FEMALE; HUMANS; INFANT; INFANT, NEWBORN; INFANT, NEWBORN, DISEASES; JUDAISM; MALE; MEMBRANE TRANSPORT PROTEINS; METABOLISM, INBORN ERRORS; MODELS, MOLECULAR; MUTATION, MISSENSE; PROTEIN FOLDING; PROTEIN MULTIMERIZATION; PROTEIN STABILITY; PROTEIN STRUCTURE, TERTIARY; STRUCTURAL HOMOLOGY, PROTEIN; ZINC;

ESCHERICHIA COLI;

EID: 84865445532     PISSN: 00219258     EISSN: 1083351X     Source Type: Journal    
DOI: 10.1074/jbc.M112.368159     Document Type: Article

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