Sorting Nexin 10 as a Key Regulator of Membrane Trafficking in Bone-Resorbing Osteoclasts: Lessons Learned From Osteopetrosis

RANKL as the master regulator of osteoclast differentiation

(2021) Hiroshi Takayanagi   JOURNAL OF BONE AND MINERAL METABOLISM

Osteoclasts recycle via osteomorphs during RANKL-stimulated bone resorption

(2021) Michelle M. McDonald et al.   CELL

An SNX10-dependent mechanism downregulates fusion between mature osteoclasts

(2021) Maayan Barnea-Zohar et al.   JOURNAL OF CELL SCIENCE

The Osteocyte: New Insights

(2020) Alexander G. Robling et al.   Annual Review of Physiology

Skeletal Changes Following Hematopoietic Stem Cell Transplantation in Osteopetrosis

(2020) Galina Shapiro et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Massive osteopetrosis caused by non-functional osteoclasts in R51Q SNX10 mutant mice

(2020) Merle Stein et al.   BONE

One Disease, Many Genes: Implications for the Treatment of Osteopetroses

(2019) Sara Penna et al.   Frontiers in Endocrinology

FKBP12: A partner of Snx10 required for vesicular trafficking in osteoclasts

(2019) Ricardo A. Battaglino et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

TCIRG1 and SNX10 gene mutations in the patients with autosomal recessive osteopetrosis

(2019) Gamze Koçak et al.   GENE

How cells fuse

(2019) Nicolas G. Brukman et al.   JOURNAL OF CELL BIOLOGY

Carrier screening for recessive disorders

(2019) Stylianos E. Antonarakis   NATURE REVIEWS GENETICS

Intermediate autosomal recessive osteopetrosis with a large noncoding deletion in SNX10 : A case report

(2019) Sarah Baer et al.   PEDIATRIC BLOOD & CANCER

SNX10 (sorting nexin 10) inhibits colorectal cancer initiation and progression by controlling autophagic degradation of SRC

(2019) Sulin Zhang et al.   Autophagy

Mendelian Gene Discovery: Fast and Furious with No End in Sight

(2019) Michael J. Bamshad et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Snx10 and PIKfyve are required for lysosome formation in osteoclasts

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

The roles of protein tyrosine phosphatases in bone-resorbing osteoclasts

(2018) Moran Shalev et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Sorting nexin 10 acts as a tumor suppressor in tumorigenesis and progression of colorectal cancer through regulating chaperone mediated autophagy degradation of p21 Cip1/WAF1

(2018) Sulin Zhang et al.   CANCER LETTERS

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

SNX10 mediates alcohol-induced liver injury and steatosis by regulating the activation of chaperone-mediated autophagy

(2018) Yan You et al.   JOURNAL OF HEPATOLOGY

The coming of age of chaperone-mediated autophagy

(2018) Susmita Kaushik et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Genetics of Osteopetrosis

(2018) Eleonora Palagano et al.   Current Osteoporosis Reports

Phosphoinositide conversion in endocytosis and the endolysosomal system

(2017) Alexander Wallroth et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Generation of induced pluripotent stem cells (ARO-iPSC1-11) from a patient with autosomal recessive osteopetrosis harboring the c.212 + 1G > T mutation in SNX10 gene

(2017) Maojia Xu et al.   Stem Cell Research

SNX10 promotes phagosome maturation in macrophages and protects mice against Listeria monocytogenes infection

(2017) Jun Lou et al.   Oncotarget

SNX10 gene mutation leading to osteopetrosis with dysfunctional osteoclasts

(2017) Eva-Lena Stattin et al.   Scientific Reports

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

(2016) Nilah M. Ioannidis et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The use of whole exome sequencing for the diagnosis of autosomal recessive malignant infantile osteopetrosis

(2016) O. Shamriz et al.   CLINICAL GENETICS

Feel the force: Podosomes in mechanosensing

(2016) Stefan Linder et al.   EXPERIMENTAL CELL RESEARCH

Synonymous Mutations Add a Layer of Complexity in the Diagnosis of Human Osteopetrosis

(2016) Eleonora Palagano et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Extending the Spectrum of Radiological Findings in Patients With Severe Osteopetrosis and Different Genetic Backgrounds

(2016) Natalia Simanovsky et al.   PEDIATRIC BLOOD & CANCER

RAB-5- and DYNAMIN-1-Mediated Endocytosis of EFF-1 Fusogen Controls Cell-Cell Fusion

(2016) Ksenia Smurova et al.   Cell Reports

Bone modeling and remodeling: potential as therapeutic targets for the treatment of osteoporosis

(2016) Bente Langdahl et al.   Therapeutic Advances in Musculoskeletal Disease

Targeting the C-type Lectins-Mediated Host-Pathogen Interactions with Dextran

(2016) Sergey Pustylnikov et al.   JOURNAL OF PHARMACY AND PHARMACEUTICAL SCIENCES

Deficiency of sorting nexin 10 prevents bone erosion in collagen-induced mouse arthritis through promoting NFATc1 degradation

(2015) Chun Zhou et al.   ANNALS OF THE RHEUMATIC DISEASES

Retromer and sorting nexins in endosomal sorting

(2015) Matthew Gallon et al.   BIOCHEMICAL SOCIETY TRANSACTIONS

Hematopoietic stem cell transplantation for infantile osteopetrosis

(2015) P. J. Orchard et al.   BLOOD

A Comprehensive Review of Immunoreceptor Regulation of Osteoclasts

(2015) Mary Beth Humphrey et al.   CLINICAL REVIEWS IN ALLERGY & IMMUNOLOGY

Radiologic resolution of malignant infantile osteopetrosis skeletal changes following hematopoietic stem cell transplantation

(2015) Amir Pejman Hashemi Taheri et al.   PEDIATRIC BLOOD & CANCER

Osteopetrorickets due to Snx10 Deficiency in Mice Results from Both Failed Osteoclast Activity and Loss of Gastric Acid-Dependent Calcium Absorption

(2015) Liang Ye et al.   PLoS Genetics

Transport activity and presence of ClC-7/Ostm1 complex account for different cellular functions

(2014) S. Weinert et al.   EMBO REPORTS

Marriage Patterns and Reproductive Decision-Making in the Inhabitants of a Single Muslim Village during a 50-Year Period

(2014) Joël Zlotogora et al.   HUMAN HEREDITY

Severe Neurodegeneration with Impaired Autophagy Mechanism Triggered by Ostm1 Deficiency

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

Dynamin and endocytosis are required for the fusion of osteoclasts and myoblasts

(2014) Nah-Young Shin et al.   JOURNAL OF CELL BIOLOGY

Absence of Dap12 and the αvβ3 integrin causes severe osteopetrosis

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

Structure of human SNX10 reveals insights into its role in human autosomal recessive osteopetrosis

(2014) Tingting Xu et al.   PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS

Podosome organization drives osteoclast-mediated bone resorption

(2014) Dan Georgess et al.   Cell Adhesion & Migration

Genetics in Endocrinology: Autosomal dominant osteopetrosis revisited: lessons from recent studies

(2013) Jens Bollerslev et al.   EUROPEAN JOURNAL OF ENDOCRINOLOGY

Osteopetrosis: genetics, treatment and new insights into osteoclast function

(2013) Cristina Sobacchi et al.   Nature Reviews Endocrinology

Osteoclasts: New Insights

(2013) Feng Xu et al.   Bone Research

Bone Modeling and Remodeling

(2012) Ego Seeman   CRITICAL REVIEWS IN EUKARYOTIC GENE EXPRESSION

Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia

(2012) André Mégarbané et al.   European Journal of Medical Genetics

SNX10mutations define a subgroup of human autosomal recessive osteopetrosis with variable clinical severity

(2012) Alessandra Pangrazio et al.   JOURNAL OF BONE AND MINERAL RESEARCH

AnSNX10mutation causes malignant osteopetrosis of infancy

(2012) Memet Aker et al.   JOURNAL OF MEDICAL GENETICS

A Mammalian Autophagosome Maturation Mechanism Mediated by TECPR1 and the Atg12-Atg5 Conjugate

(2012) Dandan Chen et al.   MOLECULAR CELL

The osteoclast and its unique cytoskeleton

(2011) Steven L. Teitelbaum   Annals of the New York Academy of Sciences

Disorders of Bone Remodeling

(2011) Xu Feng et al.   Annual Review of Pathology-Mechanisms of Disease

Insights into the PX (phox-homology) domain and SNX (sorting nexin) protein families: structures, functions and roles in disease

(2011) Rohan D. Teasdale et al.   BIOCHEMICAL JOURNAL

Characterization of the bone phenotype and fracture repair in osteopetrotic Incisors absent rats

(2010) Michelle M. McDonald et al.   JOURNAL OF ORTHOPAEDIC RESEARCH

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

(2010) K. Wang et al.   NUCLEIC ACIDS RESEARCH

Lysosomal Pathology and Osteopetrosis upon Loss of H+-Driven Lysosomal Cl- Accumulation

(2010) S. Weinert et al.   SCIENCE

Lysosomal degradation of endocytosed proteins depends on the chloride transport protein ClC-7

(2009) Lena Wartosch et al.   FASEB JOURNAL

Direct recruitment of H+-ATPase from lysosomes for phagosomal acidification

(2009) G.-H. Sun-Wada et al.   JOURNAL OF CELL SCIENCE

Impaired gastric acidification negatively affects calcium homeostasis and bone mass

(2009) Thorsten Schinke et al.   NATURE MEDICINE

Consanguinity, human evolution, and complex diseases

(2009) A. H. Bittles et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Molecular mediators of macrophage fusion

(2009) Laura Helming et al.   TRENDS IN CELL BIOLOGY

The Osteoclast: Friend or Foe?

(2008) Deborah V. Novack et al.   Annual Review of Pathology-Mechanisms of Disease

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

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

Mechanisms of membrane fusion: disparate players and common principles

(2008) Sascha Martens et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Endosomal sorting and signalling: an emerging role for sorting nexins

(2008) Peter J. Cullen   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mechanics of membrane fusion

(2008) Leonid V Chernomordik et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Vesicular trafficking in osteoclasts

(2008) Fraser P. Coxon et al.   SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY

Genetics, pathogenesis and complications of osteopetrosis

(2007) Andrea Del Fattore et al.   BONE