Ostm1 from Mouse to Human: Insights into Osteoclast Maturation

Tolerance induction and microglial engraftment after fetal therapy without conditioning in mice with Mucopolysaccharidosis type VII

(2020) Quoc-Hung Nguyen et al.   Science Translational Medicine

Osteoclast-mediated bone resorption is controlled by a compensatory network of secreted and membrane-tethered metalloproteinases

(2020) Lingxin Zhu et al.   Science Translational Medicine

Developmental origin, functional maintenance and genetic rescue of osteoclasts

(2019) Christian E. Jacome-Galarza et al.   NATURE

Snx10 and PIKfyve are required for lysosome formation in osteoclasts

(2019) Farhath Sultana et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Hematopoietic stem cell transplantation-induced bone remodeling in autosomal recessive osteopetrosis: Interaction between skeleton and hematopoietic and sensory nervous systems

(2019) Natalia Maximova et al.   BONE

Stat3-mediated alterations in lysosomal membrane protein composition

(2018) Bethan Lloyd-Lewis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Ostm1 Bifunctional Roles in Osteoclast Maturation: Insights From a Mouse Model Mimicking a Human OSTM1 Mutation

(2018) Monica Pata et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Common signalling pathways in macrophage and osteoclast multinucleation

(2018) Marie Pereira et al.   JOURNAL OF CELL SCIENCE

Updating osteoimmunology: regulation of bone cells by innate and adaptive immunity

(2018) Matthew C. Walsh et al.   Nature Reviews Rheumatology

Successful hematopoietic stem cell transplantation for osteopetrosis using reduced intensity conditioning

(2018) Bella Shadur et al.   PEDIATRIC BLOOD & CANCER

Mechanisms of lysosomal positioning and movement

(2018) Birol Cabukusta et al.   TRAFFIC

Rab GTPases in Osteoclastic Endomembrane Systems

(2018) Michèle Roy et al.   Biomed Research International

Diagnosis and Management of Osteopetrosis: Consensus Guidelines From the Osteopetrosis Working Group

(2017) Calvin C Wu et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Lost in Transportation: Nucleocytoplasmic Transport Defects in ALS and Other Neurodegenerative Diseases

(2017) Hong Joo Kim et al.   NEURON

Transplantation of Haploidentical TcRaß-Depleted Hematopoietic Cells Allows for Optimal Timing and Sustained Correction of the Metabolic Defect in Children With Infantile Osteopetrosis

(2016) Cornelis JH Pronk et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Defects in trafficking bridge Parkinson's disease pathology and genetics

(2016) Asa Abeliovich et al.   NATURE

Hematopoietic stem cell transplantation for infantile osteopetrosis

(2015) P. J. Orchard et al.   BLOOD

The elementary fusion modalities of osteoclasts

(2015) Kent Søe et al.   BONE

Role of Ostm1 Cytosolic Complex with Kinesin 5B in Intracellular Dispersion and Trafficking

(2015) Subramanya N. M. Pandruvada et al.   MOLECULAR AND CELLULAR BIOLOGY

The Great Beauty of the osteoclast

(2014) Alfredo Cappariello et al.   ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS

Secretion of a Truncated Osteopetrosis-associated Transmembrane Protein 1 (OSTM1) Mutant Inhibits Osteoclastogenesis through Down-regulation of the B Lymphocyte-induced Maturation Protein 1 (BLIMP1)-Nuclear Factor of Activated T Cells c1 (NFATc1) Axis

(2014) Bongjin Shin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Severe Neurodegeneration with Impaired Autophagy Mechanism Triggered by Ostm1 Deficiency

(2014) Céline Héraud et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Absence of Dap12 and the αvβ3 integrin causes severe osteopetrosis

(2014) Wei Zou et al.   JOURNAL OF CELL BIOLOGY

Severe neuronopathic autosomal recessive osteopetrosis due to homozygous deletions affecting OSTM1

(2013) Claus-Eric Ott et al.   BONE

Regulation of lysosome biogenesis and functions in osteoclasts

(2013) Julie Lacombe et al.   CELL CYCLE

Rapid gene identification in a Chinese osteopetrosis family by whole exome sequencing

(2013) Weiguo Sui et al.   GENE

Spontaneous Optic Nerve Compression in the Osteopetrotic (op/op) Mouse: A Novel Model of Myelination Failure

(2013) Y. Kondo et al.   JOURNAL OF NEUROSCIENCE

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

The R740S mutation in the V-ATPase a3 subunit increases lysosomal pH, impairs NFATc1 translocation, and decreases in vitro osteoclastogenesis

(2012) Irina Voronov et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Lysosomal storage disorders: The cellular impact of lysosomal dysfunction

(2012) Frances M. Platt et al.   JOURNAL OF CELL BIOLOGY

Omi, a recessive mutation on chromosome 10, is a novel allele of Ostm1

(2012) Erika A. Bosman et al.   MAMMALIAN GENOME

Inositol Polyphosphate 4-Phosphatase B as a Regulator of Bone Mass in Mice and Humans

(2011) Mathieu Ferron et al.   Cell Metabolism

Autophagy Proteins Regulate the Secretory Component of Osteoclastic Bone Resorption

(2011) Carl J. DeSelm et al.   DEVELOPMENTAL CELL

ClC-7 is a slowly voltage-gated 2Cl−/1H+-exchanger and requires Ostm1 for transport activity

(2011) Lilia Leisle et al.   EMBO JOURNAL

RANK-dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations

(2011) Alessandra Pangrazio et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Advances in osteoclast biology: old findings and new insights from mouse models

(2011) James R. Edwards et al.   Nature Reviews Rheumatology

New immune connections in osteoclast formation

(2010) Hiroshi Takayanagi   Annals of the New York Academy of Sciences

A deletion mutation in bovine SLC4A2 is associated with osteopetrosis in Red Angus cattle

(2010) Stacey N Meyers et al.   BMC GENOMICS

Severe developmental bone phenotype in ClC-7 deficient mice

(2010) A.V. Neutzsky-Wulff et al.   DEVELOPMENTAL BIOLOGY

Recent advances in understanding the mechanisms of osteoclast precursor fusion

(2010) Merry Jo Oursler   JOURNAL OF CELLULAR BIOCHEMISTRY

Hematopoietic Stem Cell Transplantation for Osteopetrosis

(2010) Colin G. Steward   PEDIATRIC CLINICS OF NORTH AMERICA

A single-center experience in 20 patients with infantile malignant osteopetrosis

(2009) Evelina Mazzolari et al.   AMERICAN JOURNAL OF HEMATOLOGY

Cell fusion in osteoclasts plays a critical role in controlling bone mass and osteoblastic activity

(2008) Ryotaro Iwasaki et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Characterization of the Bone Phenotype in ClC-7-Deficient Mice

(2008) Anita Vibsig Neutzsky-Wulff et al.   CALCIFIED TISSUE INTERNATIONAL

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

(2008) Anna Villa et al.   CALCIFIED TISSUE INTERNATIONAL

Brain lipid composition in grey-lethal mutant mouse characterized by severe malignant osteopetrosis

(2008) Alessandro Prinetti et al.   GLYCOCONJUGATE JOURNAL

Advances in osteoclast biology resulting from the study of osteopetrotic mutations

(2008) T. Segovia-Silvestre et al.   HUMAN GENETICS

OSTM1 Bone Defect Reveals an Intercellular Hematopoietic Crosstalk

(2008) Monica Pata et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Osteoclast stimulatory transmembrane protein (OC-STAMP), a novel protein induced by RANKL that promotes osteoclast differentiation

(2007) Meiheng Yang et al.   JOURNAL OF CELLULAR PHYSIOLOGY

NFATc1 Induces Osteoclast Fusion Via Up-Regulation of Atp6v0d2 and the Dendritic Cell-Specific Transmembrane Protein (DC-STAMP)

(2007) Kabsun Kim et al.   MOLECULAR ENDOCRINOLOGY