Targeting cellular stress in vitro improves osteoblast homeostasis, matrix collagen content and mineralization in two murine models of osteogenesis imperfecta

Substitution of murine type I collagen A1 3-hydroxylation site alters matrix structure but does not recapitulate osteogenesis imperfecta bone dysplasia

(2020) Wayne A. Cabral et al.   MATRIX BIOLOGY

High Fidelity of Mouse Models Mimicking Human Genetic Skeletal Disorders

(2020) Robert Brommage et al.   Frontiers in Endocrinology

Crtap and p3h1 knock out zebrafish support defective collagen chaperoning as the cause of their osteogenesis imperfecta phenotype

(2020) F. Tonelli et al.   MATRIX BIOLOGY

Mechanisms of procollagen and HSP47 sorting during ER-to-Golgi trafficking

(2020) Shakib Omari et al.   MATRIX BIOLOGY

Biglycan and chondroitin sulfate play pivotal roles in bone toughness via retaining bound water in bone mineral matrix

(2020) Rui Hua et al.   MATRIX BIOLOGY

Protein quality control by the proteasome and autophagy: A regulatory role of ubiquitin and liquid-liquid phase separation

(2020) Linlin Lei et al.   MATRIX BIOLOGY

Cellular stress due to impairment of collagen prolyl hydroxylation complex is rescued by the chaperone 4-phenylbutyrate

(2019) Roberta Besio et al.   Disease Models & Mechanisms

Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes

(2019) Roberta Besio et al.   FEBS Journal

Evaluation of dermal collagen stained with picrosirius red and examined under polarized light microscopy

(2018) Polyana Galvão Bernardes Coelho et al.   ANAIS BRASILEIROS DE DERMATOLOGIA

4-PBA ameliorates cellular homeostasis in fibroblasts from osteogenesis imperfecta patients by enhancing autophagy and stimulating protein secretion

(2018) Roberta Besio et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

4-Phenylbutyric acid presents therapeutic effect on osteoarthritis via inhibiting cell apoptosis and inflammatory response induced by endoplasmic reticulum stress

(2018) Yang-hua Tang et al.   BIOTECHNOLOGY AND APPLIED BIOCHEMISTRY

Mutant cartilage oligomeric matrix protein (COMP) compromises bone integrity, joint function and the balance between adipogenesis and osteogenesis

(2018) Francoise Coustry et al.   MATRIX BIOLOGY

Osteogenesis imperfecta and therapeutics

(2018) Roy Morello   MATRIX BIOLOGY

Extracellular matrix: The driving force of mammalian diseases

(2018) Renato V. Iozzo et al.   MATRIX BIOLOGY

Matrix modeling and remodeling: A biological interplay regulating tissue homeostasis and diseases

(2018) Nikos K. Karamanos et al.   MATRIX BIOLOGY

4-Sodium phenyl butyric acid has both efficacy and counter-indicative effects in the treatment of Col4a1 disease

(2018) Frances E Jones et al.   HUMAN MOLECULAR GENETICS

Activating the unfolded protein response in osteocytes causes hyperostosis consistent with craniodiaphyseal dysplasia

(2017) Wilson Cheuk Wing Chan et al.   HUMAN MOLECULAR GENETICS

The chaperone activity of 4PBA ameliorates the skeletal phenotype of Chihuahua, a zebrafish model for dominant osteogenesis imperfecta

(2017) Roberta Gioia et al.   HUMAN MOLECULAR GENETICS

Increased intracellular proteolysis reduces disease severity in an ER stress–associated dwarfism

(2017) Lorna A. Mullan et al.   JOURNAL OF CLINICAL INVESTIGATION

Cytoskeleton and nuclear lamina affection in recessive osteogenesis imperfecta: A functional proteomics perspective

(2017) Assunta Gagliardi et al.   Journal of Proteomics

Molecular pathways of cell-mediated degradation of fibrillar collagen

(2017) Sara Sprangers et al.   MATRIX BIOLOGY

ER retention is imposed by COPII protein sorting and attenuated by 4-phenylbutyrate

(2017) Wenfu Ma et al.   eLife

Osteogenesis imperfecta

(2017) Joan C. Marini et al.   Nature Reviews Disease Primers

Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition)

(2016) Daniel J Klionsky et al.   Autophagy

Bone mineral properties in growing Col1a2+/G610C mice, an animal model of osteogenesis imperfecta

(2016) Marco Masci et al.   BONE

The unfolded protein response in skeletal development and homeostasis

(2016) Keisuke Horiuchi et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Correlations Between Bone Mechanical Properties and Bone Composition Parameters in Mouse Models of Dominant and Recessive Osteogenesis Imperfecta and the Response to Anti-TGF-β Treatment

(2016) Xiaohong Bi et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteoblast Malfunction Caused by Cell Stress Response to Procollagen Misfolding in α2(I)-G610C Mouse Model of Osteogenesis Imperfecta

(2016) Lynn S Mirigian et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Osteogenesis imperfecta

(2016) Antonella Forlino et al.   LANCET

Makings of a brittle bone: Unexpected lessons from a low protein diet study of a mouse OI model

(2016) E.L. Mertz et al.   MATRIX BIOLOGY

Altered cytoskeletal organization characterized lethal but not surviving Brtl+/−mice: insight on phenotypic variability in osteogenesis imperfecta

(2015) Laura Bianchi et al.   HUMAN MOLECULAR GENETICS

The therapeutic effects of 4-phenylbutyric acid in maintaining proteostasis

(2015) P.S. Kolb et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

The Genetic Architecture of the Genome-Wide Transcriptional Response to ER Stress in the Mouse

(2015) Clement Y Chow et al.   PLoS Genetics

Chondroprotective effects of Salubrinal in a mouse model of osteoarthritis

(2015) K. Hamamura et al.   Bone & Joint Research

Osteogenesis imperfecta: Clinical diagnosis, nomenclature and severity assessment

(2014) F.S. Van Dijk et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Detection and quantification of endoplasmic reticulum stress in living cells using the fluorescent compound, Thioflavin T

(2013) Daniel R. Beriault et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Bone Collagen: New Clues to Its Mineralization Mechanism from Recessive Osteogenesis Imperfecta

(2013) David R. Eyre et al.   CALCIFIED TISSUE INTERNATIONAL

Chondrocyte-Specific Pathology During Skeletal Growth and Therapeutics in a Murine Model of Pseudoachondroplasia

(2013) Karen L Posey et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Site-specific Quantitative Analysis of Overglycosylation of Collagen in Osteogenesis Imperfecta Using Hydrazide Chemistry and SILAC

(2013) Yuki Taga et al.   JOURNAL OF PROTEOME RESEARCH

Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial

(2013) Nick Bishop et al.   LANCET

Histone Deacetylase Inhibitors Induced Differentiation and Accelerated Mineralization of Pulp-derived Cells

(2012) Henry F. Duncan et al.   JOURNAL OF ENDODONTICS

Osteogenesis imperfecta type V: marked phenotypic variability despite the presence of theIFITM5c.−14C>T mutation in all patients

(2012) Frank Rauch et al.   JOURNAL OF MEDICAL GENETICS

Differential response to intracellular stress in the skin from osteogenesis imperfecta Brtl mice with lethal and non lethal phenotype: A proteomic approach

(2012) Laura Bianchi et al.   Journal of Proteomics

Impaired Osteoblastogenesis in a Murine Model of Dominant Osteogenesis Imperfecta: A New Target for Osteogenesis Imperfecta Pharmacological Therapy

(2012) Roberta Gioia et al.   STEM CELLS

New perspectives on osteogenesis imperfecta

(2011) Antonella Forlino et al.   Nature Reviews Endocrinology

An unfolded protein response is the initial cellular response to the expression of mutant matrilin-3 in a mouse model of multiple epiphyseal dysplasia

(2010) Seema Nundlall et al.   CELL STRESS & CHAPERONES

Expression and Regulation of Na-Dependent Pi Transport in Matrix Vesicles Produced by Osteoblast-like Cells

(2010) C. Montessuit et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Zfp521 controls bone mass by HDAC3-dependent attenuation of Runx2 activity

(2010) Eric Hesse et al.   JOURNAL OF CELL BIOLOGY

In vivo cellular adaptation to ER stress: survival strategies with double-edged consequences

(2010) K. Y. Tsang et al.   JOURNAL OF CELL SCIENCE

Alendronate for the Treatment of Pediatric Osteogenesis Imperfecta: A Randomized Placebo-Controlled Study

(2010) L. M. Ward et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Obesity-Linked Variants of Melanocortin-4 Receptor Are Misfolded in the Endoplasmic Reticulum and Can Be Rescued to the Cell Surface by a Chemical Chaperone

(2010) Susana Granell et al.   MOLECULAR ENDOCRINOLOGY

The unfolded protein response and its relevance to connective tissue diseases

(2009) Raymond P. Boot-Handford et al.   CELL AND TISSUE RESEARCH

Folding defects in P-type ATP 8B1 associated with hereditary cholestasis are ameliorated by 4-phenylbutyrate

(2009) Lieke M. van der Velden et al.   HEPATOLOGY

Reduced expression of ATP7B affected by Wilson disease-causing mutations is rescued by pharmacological folding chaperones 4-phenylbutyrate and curcumin

(2009) Peter V. E. van den Berghe et al.   HEPATOLOGY

Variable bone fragility associated with an Amish COL1A2 variant and a knock-in mouse model

(2009) Ethan Daley et al.   JOURNAL OF BONE AND MINERAL RESEARCH

The chemical chaperone 4-phenylbutyrate inhibits adipogenesis by modulating the unfolded protein response

(2009) Sana Basseri et al.   JOURNAL OF LIPID RESEARCH

A chemical chaperone, sodium 4-phenylbutyric acid, attenuates the pathogenic potency in human α-synuclein A30P+A53T transgenic mice

(2009) Kazuhiko Ono et al.   PARKINSONISM & RELATED DISORDERS

Targeted Induction of Endoplasmic Reticulum Stress Induces Cartilage Pathology

(2009) M. Helen Rajpar et al.   PLoS Genetics

Bisphosphonates: how do they work?

(2008) Socrates E. Papapoulos   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

Candidate Cell and Matrix Interaction Domains on the Collagen Fibril, the Predominant Protein of Vertebrates

(2008) Shawn M. Sweeney et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Cellular Mechanism of Decreased Bone in Brtl Mouse Model of OI: Imbalance of Decreased Osteoblast Function and Increased Osteoclasts and Their Precursors

(2008) Thomas E Uveges et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Advances in collagen cross-link analysis

(2008) David R. Eyre et al.   METHODS

ER Stress-Mediated Apoptosis in a New Mouse Model of Osteogenesis imperfecta

(2008) Thomas S. Lisse et al.   PLoS Genetics