Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux

Human Molecular Genetics

Volumn 18, Issue 2, 2009, Pages 267-277

  Hume, Alistair N ^b   Buttgereit, Jens ^c,d   Al Awadhi, Aydah M ^a   Al Suwaidi, Sarah S ^a   John, Anne ^a   Bader, Michael ^c   Seabra, Miguel C ^b   Al gazali, Lihadh ^a   Ali, Bassam R ^a  

^a UNITED ARAB EMIRATES UNIVERSITY   (United Arab Emirates)

^b NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^c MAX DELBRÜCK CENTER FOR MOLECULAR MEDICINE   (Germany)

^d CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CYCLIC GMP; MUTANT PROTEIN; NATRIURETIC PEPTIDE RECEPTOR C;

ACROMESOMELIC DYSPLASIA TYPE MAROTEAUX; ARTICLE; CATALYSIS; CELL MEMBRANE TRANSPORT; CELL SURFACE; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DISEASE SEVERITY; DWARFISM; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; GENE FUNCTION; GROWTH DISORDER; HELA CELL; HUMAN; HUMAN CELL; LIGAND BINDING; MISSENSE MUTATION; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN TARGETING; PROTEIN TRANSPORT; SIGNAL TRANSDUCTION; SITE DIRECTED MUTAGENESIS;

CELL MEMBRANE; ENDOPLASMIC RETICULUM; HELA CELLS; HUMANS; MUCOPOLYSACCHARIDOSIS VI; MUTATION, MISSENSE; PROTEIN TRANSPORT; RECEPTORS, ATRIAL NATRIURETIC FACTOR;

MUS;

EID: 58049206783     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn354     Document Type: Article

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