Molecular mechanisms of cutis laxa– and distal renal tubular acidosis–causing mutations in V-ATPaseasubunits, ATP6V0A2 and ATP6V0A4
Published 2018 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Molecular mechanisms of cutis laxa– and distal renal tubular acidosis–causing mutations in V-ATPaseasubunits, ATP6V0A2 and ATP6V0A4
Authors
Keywords
-
Journal
JOURNAL OF BIOLOGICAL CHEMISTRY
Volume 293, Issue 8, Pages 2787-2800
Publisher
American Society for Biochemistry & Molecular Biology (ASBMB)
Online
2018-01-09
DOI
10.1074/jbc.m117.818872
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- N-linked glycosylation of a subunit isoforms is critical for vertebrate vacuolar H+ -ATPase (V-ATPase) biosynthesis
- (2017) Sally Esmail et al. JOURNAL OF CELLULAR BIOCHEMISTRY
- N-Linked Glycosylation Is Required for Vacuolar H+-ATPase (V-ATPase)a4Subunit Stability, Assembly, and Cell Surface Expression
- (2016) Sally Esmail et al. JOURNAL OF CELLULAR BIOCHEMISTRY
- Atomic model for the membrane-embedded VO motor of a eukaryotic V-ATPase
- (2016) Mohammad T. Mazhab-Jafari et al. NATURE
- Models for the a subunits of theThermus thermophilusV/A-ATPase andSaccharomyces cerevisiaeV-ATPase enzymes by cryo-EM and evolutionary covariance
- (2016) Daniel G. Schep et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Next-generation sequencing reveals large connected networks of intra-host HCV variants
- (2014) David S Campo et al. BMC GENOMICS
- Mechanisms of protein-folding diseases at a glance
- (2014) J. S. Valastyan et al. Disease Models & Mechanisms
- SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information
- (2014) Marco Biasini et al. NUCLEIC ACIDS RESEARCH
- Regulation of Endoplasmic Reticulum-Associated Protein Degradation (ERAD) by Ubiquitin
- (2014) Leticia Lemus et al. Cells
- VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy
- (2013) Nivetha Ramachandran et al. ACTA NEUROPATHOLOGICA
- Human Diseases Associated with Form and Function of the Golgi Complex
- (2013) Mariana Bexiga et al. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
- Topology, glycosylation and conformational changes in the membrane domain of the vacuolar H+-ATPaseasubunit
- (2013) Norbert Kartner et al. JOURNAL OF CELLULAR BIOCHEMISTRY
- Mechanism-based corrector combination restores ΔF508-CFTR folding and function
- (2013) Tsukasa Okiyoneda et al. Nature Chemical Biology
- Osteopetrosis: genetics, treatment and new insights into osteoclast function
- (2013) Cristina Sobacchi et al. Nature Reviews Endocrinology
- Regulation of Luminal Acidification by the V-ATPase
- (2013) Sylvie Breton et al. PHYSIOLOGY
- Rotational catalysis in proton pumping ATPases: From E. coli F-ATPase to mammalian V-ATPase
- (2012) Masamitsu Futai et al. BIOCHIMICA ET BIOPHYSICA ACTA-BIOENERGETICS
- Further characterization of ATP6V0A2-related autosomal recessive cutis laxa
- (2012) Björn Fischer et al. HUMAN GENETICS
- Osteopetrosis Mutation R444L Causes Endoplasmic Reticulum Retention and Misprocessing of Vacuolar H+-ATPasea3Subunit
- (2012) Ajay Bhargava et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Genetic causes and mechanisms of distal renal tubular acidosis
- (2012) D. Batlle et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- A graphical interface for the FoldX forcefield
- (2011) J. Van Durme et al. BIOINFORMATICS
- Definition of Membrane Topology and Identification of Residues Important for Transport in Subunit a of the Vacuolar ATPase
- (2011) Masashi Toei et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Regulation and Isoform Function of the V-ATPases
- (2010) Masashi Toei et al. BIOCHEMISTRY
- Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa
- (2009) Mailys Guillard et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
- Sensors and regulators of intracellular pH
- (2009) Joseph R. Casey et al. NATURE REVIEWS MOLECULAR CELL BIOLOGY
- Voa1p Functions in V-ATPase Assembly in the Yeast Endoplasmic Reticulum
- (2008) Margret Ryan et al. MOLECULAR BIOLOGY OF THE CELL
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started