Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis.

By J. Kaplan, S. H. Kim, K. North, H. Rennke, L. A. Correia, H. Tong, B. J. Mathis, J. Rodriguez-Perez, P. G. Allen, Alan H. Beggs and 1 more. Nature Genetics, 2000

636 citations recorded by the source corpus.

View Paper: https://www.semanticscholar.org/paper/48ab8ff779e031e22262e2a4ffa4baf19cb22056

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Citations in the corpus

• Podocin, a raft-associated component of the glomerular slit diaphragm, interacts with CD2AP and nephrin. (2001, background): “Mutations in NPHS2 are associated with familial steroid-resistant nephrotic syndrome manifest as early childhood onset of proteinuria, rapid progression to end-stage renal disease, and FSGS.”
• A conditionally immortalized human podocyte cell line demonstrating nephrin and podocin expression. (2002, background): “These are the genes coding for -actinin–4 (26), a cytoskeletal linking protein, and the gene termed NPHS2, encoding the novel protein podocin (12).”
• Podocyte biology and response to injury. (2002, background): “identified that lead to FP effacement and proteinuria: (1) interference with the SD complex and its lipid rafts; (2) interference with the GBM or the podocyte-GBM interaction (6,7,44–49); (3) interference with the actin cytoskeleton and its associated protein -actinin-4 (36,41); and (4) interference”