Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis

By A. Frattini, P. Orchard, C. Sobacchi, S. Giliani, M. Abinun, J. Mattsson, D. Keeling, A. Andersson, P. Wallbrandt, L. Zecca and 3 more. Nature Genetics, 2000

671 citations recorded by the source corpus.

Subfields: Molecular Biology, Nutrition and Dietetics, Oncology

View Paper: https://www.semanticscholar.org/paper/bd25a39510413c5cbe5b1e0b56be8a5d1c19c58a

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

In Molecular Biology

In Nutrition and Dietetics

S. Teitelbaum

In Oncology

Citations in the corpus

The vacuolar (H+)-ATPases — nature's most versatile proton pumps (2002, background): “The importance of V-ATPases in these processes has been highlighted by the identification of genetic defects that result from the absence of specific V-ATPase subunit”
Models for the a subunits of the Thermus thermophilus V/A-ATPase and Saccharomyces cerevisiae V-ATPase enzymes by cryo-EM and evolutionary covariance (2016, background): “Malfunction or misregulation of these enzymes results in numerous disorders, including osteopetrosis (4) and renal tubular acidosis (5, 6).”
Osteoclasts: what do they do and how do they do it? (2007, positive): “In fact, mutations of the H ATPase is the most common known cause of osteopetrosis in man.(57) The potential intracellular alkalinity induced by the massive proton transport is prevented by electroneutral chloride/bicarbonate exchanger.”
Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man. (2001, background): “Mutations in thea nonsense mutation at the corresponding position (R704X) in ClC-5 caused Dent’s disease and abolished a3 subunit cause infantile malignant osteopetrosis (Frattini et al., 2000; Kornak et al., 2000).”
Genetic regulation of osteoclast development and function (2003, background): “Mutations of the osteoclast electrogenic proton pump, particularly its a3 (116 kDa) transmembrane subunit, account for most of the documented cases of human malignant osteopetrosi”
A mutation in the LDL receptor-related protein 5 gene results in the autosomal dominant high-bone-mass trait. (2002, background): “A subset of arOP cases results from mutations in the osteoclast-specific TCIRG1 subunit of the vacuolar proton pump (Frattini et al. 2000; Scimeca et al. 2000).”