Novel c.G630A TCIRG1 mutation causes aberrant splicing resulting in an unusually mild form of autosomal recessive osteopetrosis

RNA interference therapy for autosomal dominant osteopetrosis type 2. Towards the preclinical development

(2018) Antonio Maurizi et al.   BONE

Molecular basis for the binding and modulation of V-ATPase by a bacterial effector protein

(2017) Jianhua Zhao et al.   PLoS Pathogens

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

Splice-switching antisense oligonucleotides as therapeutic drugs

(2016) Mallory A. Havens et al.   NUCLEIC ACIDS RESEARCH

Buried in the Middle but Guilty: Intronic Mutations in the TCIRG1 Gene Cause Human Autosomal Recessive Osteopetrosis

(2015) Eleonora Palagano et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The Phyre2 web portal for protein modeling, prediction and analysis

(2015) Lawrence A Kelley et al.   Nature Protocols

As Little as Needed: The Extraordinary Case of a Mild Recessive Osteopetrosis Owing to a Novel Splicing Hypomorphic Mutation in theTCIRG1Gene

(2014) Cristina Sobacchi et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Topology, glycosylation and conformational changes in the membrane domain of the vacuolar H+-ATPaseasubunit

(2013) Norbert Kartner et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications

(2012) A. Pangrazio et al.   OSTEOPOROSIS INTERNATIONAL

Bone remodelling at a glance

(2011) J. C. Crockett et al.   JOURNAL OF CELL SCIENCE

Crystal Structure of the Cytoplasmic N-Terminal Domain of Subunit I, a Homolog of Subunit a, of V-ATPase

(2011) Sankaranarayanan Srinivasan et al.   JOURNAL OF MOLECULAR BIOLOGY

Novel mutation of TCIRG1 and clinical pictures of two infantile malignant osteopetrosis patients

(2010) Ping Yuan et al.   JOURNAL OF BONE AND MINERAL METABOLISM

Osteopetrosis

(2009) Zornitza Stark et al.   Orphanet Journal of Rare Diseases

Infantile Malignant, Autosomal Recessive Osteopetrosis: The Rich and The Poor

(2008) Anna Villa et al.   CALCIFIED TISSUE INTERNATIONAL