scholarly journals Autosomal recessive proximal renal tubular acidosis

2020 ◽  
Author(s):  
Keyword(s):  
Renal Tubular Acidosis ◽  
Autosomal Recessive ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular

scholarly journals G418-mediated ribosomal read-through of a nonsense mutation causing autosomal recessive proximal renal tubular acidosis

2008 ◽  
Vol 295 (3) ◽  
pp. F633-F641 ◽  
Author(s):  
Rustam Azimov ◽  
Natalia Abuladze ◽  
Pakan Sassani ◽  
Debra Newman ◽  
Liyo Kao ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Autosomal Recessive ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Immunoblot Analysis ◽  
Full Length ◽  
Aminoglycoside Resistance ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular

Autosomal recessive proximal renal tubular acidosis is caused by mutations in the SLC4A4 gene encoding the electrogenic sodium bicarbonate cotransporter NBCe1-A. The mutations that have been characterized thus far result in premature truncation, mistargeting, or decreased function of the cotransporter. Despite bicarbonate treatment to correct the metabolic acidosis, extrarenal manifestations persist, including glaucoma, cataracts, corneal opacification, and mental retardation. Currently, there are no known therapeutic approaches that can specifically target mutant NBCe1-A proteins. In the present study, we tested the hypothesis that the NBCe1-A-Q29X mutation can be rescued in vitro by treatment with aminoglycoside antibiotics, which are known for their ability to suppress premature stop codons. As a model system, we cloned the NBCe1-A-Q29X mutant into a vector lacking an aminoglycoside resistance gene and transfected the mutant cotransporter in HEK293-H cells. Cells transfected with the NBCe1-A-Q29X mutant failed to express the cotransporter because of the premature stop codon. Treatment of the cells with G418 significantly increased the expression of the full-length cotransporter, as assessed by immunoblot analysis. Furthermore, immunocytochemical studies demonstrated that G418 treatment induced cotransporter expression on the plasma membrane whereas in the absence of G418, NBCe1-A-Q29X was not expressed. In HEK293-H cells transfected with the NBCe1-A-Q29X mutant not treated with G418, NBCe1-A-mediated flux was not detectable. In contrast, in cells transfected with the NBCe1-A-Q29X mutant, G418 treatment induced Na+- and HCO3−-dependent transport that did not differ from wild-type NBCe1-A function. G418 treatment in mock-transfected cells was without effect. In conclusion, G418 induces ribosomal read-through of the NBCe1-A-Q29X mutation in HEK293-H cells. These findings represent the first evidence that in the presence of the NBCe1-A-Q29X mutation that causes proximal renal tubular acidosis, full-length functional NBCe1-A protein can be produced. Our results provide the first demonstration of a mutation in NBCe1-A that has been treated in a targeted and specific manner.

Severe Irreversible Proximal Renal Tubular Acidosis and Azotaemia Secondary to Cidofovir

Nephron ◽  
2000 ◽  
Vol 86 (3) ◽  
pp. 348-349 ◽  
Author(s):  
Troy D. Kay ◽  
Patrick G. Hogan ◽  
Susan E. McLeod ◽  
David W. Johnson
Keyword(s):  
Renal Tubular Acidosis ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular

Proximal Renal Tubular Acidosis

2009 ◽  
pp. 1738-1738
Author(s):  
Markus Braun-Falco ◽  
Henry J. Mankin ◽  
Sharon L. Wenger ◽  
Markus Braun-Falco ◽  
Stephan DiSean Kendall ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular

Oxaliplatin-induced proximal renal tubular acidosis

2009 ◽  
Vol 5 (3) ◽  
pp. 267-268 ◽  
Author(s):  
Aurelio Negro ◽  
Chiara Grasselli ◽  
Paola Galli
Keyword(s):  
Renal Tubular Acidosis ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular

scholarly journals Acid and mineral balances and bone in familial proximal renal tubular acidosis

2000 ◽  
Vol 58 (3) ◽  
pp. 1267-1277 ◽  
Author(s):  
Jacob Lemann ◽  
Nancy D. Adams ◽  
Donald R. Wilz ◽  
Luis G. Brenes
Keyword(s):  
Renal Tubular Acidosis ◽  
Proximal Renal Tubular Acidosis ◽  
Renal Tubular

scholarly journals Autosomal recessive distal renal tubular acidosis associated with Southeast Asian ovalocytosis

1999 ◽  
Vol 56 (5) ◽  
pp. 1674-1682 ◽  
Author(s):  
Somkiat Vasuvattakul ◽  
Pa-thai Yenchitsomanus ◽  
Prayong Vachuanichsanong ◽  
Peti Thuwajit ◽  
Charoen Kaitwatcharachai ◽  
...  
Keyword(s):  
Renal Tubular Acidosis ◽  
Autosomal Recessive ◽  
Southeast Asian ◽  
Distal Renal Tubular Acidosis ◽  
Renal Tubular
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