Skip to search formSkip to main contentSkip to account menu

Glycogen Storage Disease Type IIb

Known as: Vacuolar Cardiomyopathy and Myopathy, X-linked, ANTOPOL DISEASE, LYSOSOMAL GLYCOGEN STORAGE DISEASE WITHOUT ACID MALTASE DEFICIENCY, FORMERLY 
An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene… 
National Institutes of Health

Related topics

Related topics

15 relations
Cardiomyopathy, DilatedDevelopmental delay (disorder)Generalized amyotrophyHypertrophic Cardiomyopathy

Broader (1)

Inborn Errors of Metabolism

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2012
Highly Cited
2012
Vacuolar H+-ATPase (V-ATPase) Promotes Vacuolar Membrane Permeabilization and Nonapoptotic Death in Stressed Yeast*
Background: Living cells utilize several mechanisms to commit suicide when stressed. Results: We find that dying yeast cells… 
Highly Cited
2010
Highly Cited
2010
Archazolid A Binds to the Equatorial Region of the c-Ring of the Vacuolar H+-ATPase*
The macrolactone archazolid is a novel, highly specific V-ATPase inhibitor with an IC50 value in the low nanomolar range. The… 
Review
2010
Review
2010
Familial renal tubular acidosis.
The kidney maintains systemic acid-base homeostasis through proximal tubular reclamation of filtered bicarbonate, and excretion… 
2005
2005
Defined sites of interaction between subunits E (Vma4p), C (Vma5p), and G (Vma10p) within the stator structure of the vacuolar H+-ATPase.
Vacuolar H(+)-ATPases (V-ATPases) are multi-subunit membrane proteins that couple ATP hydrolysis to the extrusion of protons from… 
Highly Cited
2001
Highly Cited
2001
Mary-Annick Morel &Laurent Danon-Boileau : Grammaire de l'intonation. L'exemple du français. Ophrys, Paris, 1998.
Highly Cited
1998
Highly Cited
1998
Proton Gradient-Driven Nickel Uptake by Vacuolar Membrane Vesicles of Saccharomyces cerevisiae
ABSTRACT A vacuolar H+-ATPase-negative mutant ofSaccharomyces cerevisiae was highly sensitive to nickel ion. Accumulation of… 
1993
1993
The yeast VPS17 gene encodes a membrane-associated protein required for the sorting of soluble vacuolar hydrolases.
Review
1992
Review
1992
Subunit composition, biosynthesis, and assembly of the yeast vacuolar proton-translocating ATPase
The yeast vacuole is acidified by a vacuolar proton-translocating ATPase (H+-ATPase) that closely resembles the vacuolar H… 
Highly Cited
1990
Highly Cited
1990
Roles of the VMA3 gene product, subunit c of the vacuolar membrane H(+)-ATPase on vacuolar acidification and protein transport. A study with VMA3-disrupted mutants of Saccharomyces cerevisiae.
1966
1966
A skin-sensitizing and thermolabile antibody in the mouse.
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)