Open Library logo
New Feature: You can now embed Open Library books on your website!   Learn More
Last edited by WorkBot
January 24, 2010 | History

Effects of human a3 and a4 mutations that result in osteopetrosis and distal renal tubular acidosis on yeast V-ATPase expression and activity 1 edition

Effects of human a3 and a4 mutations that result in osteopetrosis and ...
Noelle Marie Ochotny

No ebook available.


Prefer the physical book? Check nearby libraries with:


Buy this book


There's no description for this book yet. Can you add one?
There is only 1 edition record, so we'll show it here...  •  Add edition?

Effects of human a3 and a4 mutations that result in osteopetrosis and distal renal tubular acidosis on yeast V-ATPase expression and activity.

Published 2006 .
Written in English.

About the Book

V-ATPases are multimeric proton pumps. The 'a' subunit is encoded by four isoforms (a1-a4) in mammals and two (Vph1p and Stv1p) in yeast. 'a3' is enriched in osteoclasts and is essential for bone resorption while a4 is expressed in the distal nephron and acidifies urine. Mutations to human a3 and a4 genes result in osteopetrosis and distal renal tubular acidosis, respectively. We have recreated human a3 (G405R, R444L) and a4 (P524L, G820R) mutations in conserved regions of the yeast V-ATPase 'a' subunit ortholog, Vph1p as: a3 (G424R, R462L), a4 (W520L, G812R). 'a3' (G424R, R462L) mutations had near wild-type activity and wild-type expression of V-ATPase subunits. 'a4' mutation G812R had severely reduced activity and wild-type expression. 'a4' mutation W520L was dominant negative in yeast, as overexpression of wild-type yeast 'a' isoforms Vph1p or Stv1p did not restore activity or expression. Deletion of endoplasmic reticulum assembly factors partially rescued this phenotype.

Edition Notes

Source: Masters Abstracts International, Volume: 44-06, page: 2776.

Thesis (M.Sc.)--University of Toronto, 2006.

Electronic version licensed for access by U. of T. users.

ROBARTS MICROTEXT copy on microfiche.

The Physical Object

Pagination
60 leaves.
Number of pages
60

ID Numbers

Open Library
OL19215260M
ISBN 13
9780494161913

History

Download catalog record: RDF / JSON
January 24, 2010 Edited by WorkBot add more information to works
December 11, 2009 Created by WorkBot add works page