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

@article{Kaplan2000MutationsIA,
  title={Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis},
  author={Joshua M Kaplan and Sung Hwan Kim and Kathryn N North and Helmut G. Rennke and Lori Ann Correia and Hui-Qi Tong and Beverly J. Mathis and Jos{\'e}-Carlos Rodr{\'i}guez-P{\'e}rez and Philip G. Allen and Alan H. Beggs and Martin R. Pollak},
  journal={Nature Genetics},
  year={2000},
  volume={24},
  pages={251-256}
}
Focal and segmental glomerulosclerosis (FSGS) is a common, non-specific renal lesion. Although it is often secondary to other disorders, including HIV infection, obesity, hypertension and diabetes, FSGS also appears as an isolated, idiopathic condition. FSGS is characterized by increased urinary protein excretion and decreasing kidney function. Often, renal insufficiency in affected patients progresses to end-stage renal failure, a highly morbid state requiring either dialysis therapy or kidney… CONTINUE READING

Citations

Publications citing this paper.
SHOWING 1-10 OF 163 CITATIONS, ESTIMATED 56% COVERAGE

The cell biology of renal filtration

VIEW 7 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Protein half-life determines expression of proteostatic networks in podocyte differentiation.

  • FASEB journal : official publication of the Federation of American Societies for Experimental Biology
  • 2018
VIEW 4 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Forkhead genes in adipocytes and podocytes

VIEW 5 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

α Actinin 4 (ACTN4) Regulates Glucocorticoid Receptor-mediated Transactivation and Transrepression in Podocytes*

  • The Journal of Biological Chemistry
  • 2016
VIEW 15 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Actin-associated Proteins in the Pathogenesis of Podocyte Injury

VIEW 16 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

Characterisation of the non-muscle α-actinins

VIEW 4 EXCERPTS
CITES BACKGROUND
HIGHLY INFLUENCED

FILTER CITATIONS BY YEAR

2000
2019

CITATION STATISTICS

  • 19 Highly Influenced Citations

References

Publications referenced by this paper.
SHOWING 1-10 OF 31 REFERENCES

α-actinin-CapZ, an anchoring complex for thin filaments in Z-line

I Papa
  • J. Muscle Res. Cell Motil. 20,
  • 1999