CLC chloride channels and transporters: structure, function, physiology, and disease

TJ Jentsch, M Pusch - Physiological reviews, 2018 - journals.physiology.org
CLC anion transporters are found in all phyla and form a gene family of eight members in
mammals. Two CLC proteins, each of which completely contains an ion translocation …

Osteoclasts provide coupling signals to osteoblast lineage cells through multiple mechanisms

NA Sims, TJ Martin - Annual review of physiology, 2020 - annualreviews.org
Bone remodeling is essential for the repair and replacement of damaged and old bone. The
major principle underlying this process is that osteoclast-mediated resorption of a quantum …

High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes

R Brommage, J Liu, GM Hansen, LL Kirkpatrick… - Bone research, 2014 - nature.com
Screening gene function in vivo is a powerful approach to discover novel drug targets. We
present high-throughput screening (HTS) data for 3 762 distinct global gene knockout (KO) …

Molecular mechanisms of craniofacial and dental abnormalities in osteopetrosis

Y Ma, Y Xu, Y Zhang, X Duan - International Journal of Molecular …, 2023 - mdpi.com
Osteopetrosis is a group of genetic bone disorders characterized by increased bone density
and defective bone resorption. Osteopetrosis presents a series of clinical manifestations …

The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants

X Cao, GM Lenk, V Mikusevic, JA Mindell… - Plos Genetics, 2023 - journals.plos.org
The phosphatase FIG4 and the scaffold protein VAC14 function in the biosynthesis of PI (3,
5) P2, a signaling lipid that inhibits the lysosomal chloride transporter ClC-7. Loss-of …

CLCN7, a gene shared by autosomal recessive and autosomal dominant osteopetrosis

T Stauber, L Wartosch, S Vishnolia, A Schulz, U Kornak - Bone, 2023 - Elsevier
After the discovery of abundant v-ATPase complexes in the osteoclast ruffled membrane it
was obvious that in parallel a negative counter-ion needs to be transported across this …

Novel hybrid silicon-lipid nanoparticles deliver a siRNA to cure autosomal dominant osteopetrosis in mice. Implications for gene therapy in humans

A Maurizi, P Patrizii, A Teti, FM Sutera… - … Therapy-Nucleic Acids, 2023 - cell.com
Rare skeletal diseases are still in need of proper clinically available transfection agents as
the major challenge for first-in-human translation relates to intrinsic difficulty in targeting …

Osteopetroses, emphasizing potential approaches to treatment

A Teti, MJ Econs - Bone, 2017 - Elsevier
Osteopetroses are a heterogeneous group of rare genetic bone diseases sharing the
common hallmarks of reduced osteoclast activity, increased bone mass and high bone …

Neurodegeneration upon dysfunction of endosomal/lysosomal CLC chloride transporters

S Bose, H He, T Stauber - Frontiers in Cell and Developmental …, 2021 - frontiersin.org
The regulation of luminal ion concentrations is critical for the function of, and transport
between intracellular organelles. The importance of the acidic pH in the compartments of the …

A roadmap to gene discoveries and novel therapies in monogenic low and high bone mass disorders

MM Formosa, DJM Bergen, CL Gregson… - Frontiers in …, 2021 - frontiersin.org
Genetic disorders of the skeleton encompass a diverse group of bone diseases differing in
clinical characteristics, severity, incidence and molecular etiology. Of particular interest are …