Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: Insight into the mechanisms of congenital nephrotic syndrome

Human Molecular Genetics

Volumn 10, Issue 23, 2001, Pages 2637-2644

  Liu, Li ^a   Doné, Stefania Cotta ^a   Khoshnoodi, Jamshid ^a   Bertorello, Alejandro ^a   Wartiovaara, Jorma ^b   Berggren, Per Olof ^a   Tryggvason, Karl ^a  

^a KAROLINSKA INSTITUTE   (Sweden)

^b UNIVERSITY OF HELSINKI   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; MUTANT PROTEIN; NEPHRIN;

ARTICLE; CELL FRACTIONATION; CELL LINE; CELL MEMBRANE; CELL MUTANT; CELL SURFACE; CELLULAR DISTRIBUTION; CONGENITAL NEPHROTIC SYNDROME; CONTROLLED STUDY; ENDOPLASMIC RETICULUM; GENETIC TRANSFECTION; HUMAN; HUMAN CELL; IMMUNOELECTRON MICROSCOPY; IMMUNOHISTOCHEMISTRY; INTRACELLULAR TRANSPORT; MISSENSE MUTATION; PRIORITY JOURNAL; PROTEIN DEFECT; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; PROTEIN TRANSPORT;

EID: 0035510132     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/10.23.2637     Document Type: Article

References (16)

1. Nephrin is specifically located at the slit diaphragm of glomerular podocytes
2. Unraveling the mechanisms of glomerular ultrafiltration: Nephrin, a key component of the slit diaphragm
3. Main features of the congenital nephrotic syndrome
4. Positionally cloned gene for a novel glomerular protein-nephrin-is mutated in congenital nephrotic syndrome
5. Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations
6. Mutation Spectrum in the Nephrin Gene (NPHS1) in Congenital Nephrotic Syndrome
7. Pathological missense mutations of neural cell adhesion molecule L1 affect homophilic and heterophilic binding activities
8. Primary structure of mouse and rat nephrin cDNA and structure and expression of the mouse gene
9. Setting the standards: Quality control in the secretory pathway
10. Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis
11. HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects
12. Role of nephrin in cell junction formation in human nephrogenesis
13. +-ATPase is associated with endocytosis of it's α- and β-subunits
14. A rapid method for quantitation of micrograms quantities of protein utilizing the principle of protein-dye binding
15. Cleavage of structural proteins during the assembly of the head of bacteriophage T4
16. +-ATPase α subunit and regulates its trafficking