Endoplasmic reticulum stress in chondrodysplasias caused by mutations in collagen types II and X

Endoplasmic reticulum stress: a novel mechanism and therapeutic target for cardiovascular diseases

(2016) Mei-qing Liu et al.   ACTA PHARMACOLOGICA SINICA

Novel mechanism of enhancing IRE1α-XBP1 signalling via the PERK-ATF4 pathway

(2016) Akio Tsuru et al.   Scientific Reports

Mechanisms of Aberrant Organization of Growth Plates in Conditional Transgenic Mouse Model of Spondyloepiphyseal Dysplasia Associated with the R992C Substitution in Collagen II

(2015) Machiko Arita et al.   AMERICAN JOURNAL OF PATHOLOGY

High expression of endoplasmic reticulum chaperone grp94 is a novel molecular hallmark of malignant plasma cells in multiple myeloma

(2015) Saurabh Chhabra et al.   Journal of Hematology & Oncology

New therapeutic targets in rare genetic skeletal diseases

(2015) Michael D Briggs et al.   Expert Opinion on Orphan Drugs

Z α1-Antitrypsin Confers a Proinflammatory Phenotype That Contributes to Chronic Obstructive Pulmonary Disease

(2014) Samuel Alam et al.   AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE

Mechanisms and models of endoplasmic reticulum stress in chondrodysplasia

(2014) Sara E. Patterson et al.   DEVELOPMENTAL DYNAMICS

Modeling type II collagenopathy skeletal dysplasia by directed conversion and induced pluripotent stem cells

(2014) Minoru Okada et al.   HUMAN MOLECULAR GENETICS

Muscle Proteomics Reveals Novel Insights into the Pathophysiological Mechanisms of Collagen VI Myopathies

(2014) Sara De Palma et al.   JOURNAL OF PROTEOME RESEARCH

Endoplasmic Reticulum Stress-Unfolding Protein Response-Apoptosis Cascade Causes Chondrodysplasia in a col2a1 p.Gly1170Ser Mutated Mouse Model

(2014) Guoyan Liang et al.   PLoS One

ER stress-induced cell death mechanisms

(2013) Renata Sano et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Small molecule modulators of eukaryotic initiation factor 2α kinases, the key regulators of protein synthesis

(2013) Manali Joshi et al.   BIOCHIMIE

Selective, potent blockade of the IRE1 and ATF6 pathways by 4-phenylbutyric acid analogues

(2013) Hui Zhang et al.   BRITISH JOURNAL OF PHARMACOLOGY

Allelic heterogeneity contributes to variability in ocular dysgenesis, myopathy and brain malformations caused by Col4a1 and Col4a2 mutations

(2013) Debbie S. Kuo et al.   HUMAN MOLECULAR GENETICS

Skeletal diseases caused by mutations that affect collagen structure and function

(2013) William V. Arnold et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Evidence for Activation of the Unfolded Protein Response in Collagen IV Nephropathies

(2013) M. Pieri et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Unfolded protein response in Gaucher disease: from human to Drosophila

(2013) Gali Maor et al.   Orphanet Journal of Rare Diseases

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

(2013) Sofie Symoens et al.   Orphanet Journal of Rare Diseases

Unfolded protein response to autophagy as a promising druggable target for anticancer therapy

(2012) Dong Hoon Suh et al.   Annals of the New York Academy of Sciences

Endoplasmic Reticulum Stress Is Involved in Cardiac Damage and Vascular Endothelial Dysfunction in Hypertensive Mice

(2012) Modar Kassan et al.   ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY

COL4A2 mutation associated with familial porencephaly and small-vessel disease

(2012) Elly Verbeek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Endothelial Dysfunction in Diabetes Mellitus: Possible Involvement of Endoplasmic Reticulum Stress?

(2012) Basma Basha et al.   Experimental Diabetes Research

Directin Vitroandin VivoEvidence for Interaction between Hsp47 Protein and Collagen Triple Helix

(2012) Takashi Ono et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

COL4A2 Mutations Impair COL4A1 and COL4A2 Secretion and Cause Hemorrhagic Stroke

(2011) Marion Jeanne et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Avascular necrosis of the femoral head due to a novel C propeptide mutation in COL2A1

(2011) Peter Kannu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Nosology and classification of genetic skeletal disorders: 2010 revision

(2011) Matthew L. Warman et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Persistence of intracellular and extracellular changes after incompletely suppressing expression of the R789C (p.R989C) and R992C (p.R1192C) collagen II mutants

(2011) Deborah A. Jensen et al.   HUMAN MUTATION

Enhanced apoptotic and reduced protective response in chondrocytes following endoplasmic reticulum stress in osteoarthritic cartilage

(2011) Koji Takada et al.   INTERNATIONAL JOURNAL OF EXPERIMENTAL PATHOLOGY

The skeleton: a multi-functional complex organ. The growth plate chondrocyte and endochondral ossification

(2011) E J Mackie et al.   JOURNAL OF ENDOCRINOLOGY

ENU-induced missense mutation in the C-propeptide coding region of Col2a1 creates a mouse model of platyspondylic lethal skeletal dysplasia, Torrance type

(2011) Tatsuya Furuichi et al.   MAMMALIAN GENOME

Prenatal manifestation and management of a mother and child affected by spondyloperipheral dysplasia with a C-propeptide mutation in COL2A1: case report

(2011) Maria Bedeschi et al.   Orphanet Journal of Rare Diseases

The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation

(2011) P. Walter et al.   SCIENCE

Recurrence of achondrogenesis type 2 in sibs: Additional evidence for germline mosaicism

(2010) Jessica M. Comstock et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Reducing the effects of intracellular accumulation of thermolabile collagen II mutants by increasing their thermostability in cell culture conditions

(2010) Katarzyna Gawron et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Endoplasmic Reticulum Stress and the Inflammatory Basis of Metabolic Disease

(2010) Gökhan S. Hotamisligil   CELL

Endoplasmic Reticulum Stress As a Therapeutic Target in Cardiovascular Disease

(2010) Tetsuo Minamino et al.   CIRCULATION RESEARCH

Role of COL4A1 in Basement-Membrane Integrity and Cerebral Small-Vessel Disease. The COL4A1 Stroke Syndrome

(2010) I. Volonghi et al.   CURRENT MEDICINAL CHEMISTRY

Restoring endoplasmic reticulum function by chemical chaperones: an emerging therapeutic approach for metabolic diseases

(2010) F. Engin et al.   DIABETES OBESITY & METABOLISM

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

(2010) Kristien P Hoornaert et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease

(2010) I. Ron et al.   HUMAN MOLECULAR GENETICS

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

(2010) Brian P Kelley et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains

(2010) Outi Mäkitie et al.   JOURNAL OF ORTHOPAEDIC RESEARCH

Molecular Symbiosis of CHOP and C/EBP  Isoform LIP Contributes to Endoplasmic Reticulum Stress-Induced Apoptosis

(2010) C.-B. Chiribau et al.   MOLECULAR AND CELLULAR BIOLOGY

Severe neonatal spondylometaphyseal dysplasia in two siblings

(2009) Malwina Czarny-Ratajczak et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Czech dysplasia occurring in a Japanese family

(2009) Yoshito Matsui et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Genetic Control of Bone Formation

(2009) Gerard Karsenty et al.   Annual Review of Cell and Developmental Biology

The unfolded protein response and its relevance to connective tissue diseases

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

Null mutations in LEPRE1 and CRTAP cause severe recessive osteogenesis imperfecta

(2009) Joan C. Marini et al.   CELL AND TISSUE RESEARCH

Endoplasmic reticulum stress in disease: mechanisms and therapeutic opportunities

(2009) Toru Hosoi et al.   CLINICAL SCIENCE

Abnormal Expression of Collagen IV in Lens Activates Unfolded Protein Response Resulting in Cataract

(2009) Zeynep Firtina et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Advanced Osteoarthritis in Humans Is Associated With Altered Collagen VI Expression and Upregulation of ER-stress Markers Grp78 and Bag-1

(2009) Ashleigh E. Nugent et al.   JOURNAL OF HISTOCHEMISTRY & CYTOCHEMISTRY

R992C (p.R1192C) Substitution in Collagen II Alters the Structure of Mutant Molecules and Induces the Unfolded Protein Response

(2009) Hye Jin Chung et al.   JOURNAL OF MOLECULAR BIOLOGY

Genetic diseases of connective tissues: cellular and extracellular effects of ECM mutations

(2009) John F. Bateman et al.   NATURE REVIEWS GENETICS

The Human Gene Mutation Database: 2008 update

(2009) Peter D Stenson et al.   Genome Medicine

Targeted Induction of Endoplasmic Reticulum Stress Induces Cartilage Pathology

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

The Basic Science of Articular Cartilage: Structure, Composition, and Function

(2009) Alice J. Sophia Fox et al.   Sports Health-A Multidisciplinary Approach

Czech dysplasia: Report of a large family and further delineation of the phenotype

(2008) Andreas Tzschach et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Transcriptional Control of Skeletogenesis

(2008) Gerard Karsenty   Annual Review of Genomics and Human Genetics

Endoplasmic Reticulum Stress in Disease Pathogenesis

(2008) Jonathan H. Lin et al.   Annual Review of Pathology-Mechanisms of Disease

Age at onset–dependent presentations of premature hip osteoarthritis, avascular necrosis of the femoral head, or Legg-Calvé-Perthes disease in a single family, consequent upon a p.Gly1170Ser mutation ofCOL2A1

(2008) Peiqiang Su et al.   ARTHRITIS AND RHEUMATISM

Protein quality control in the early secretory pathway

(2008) Tiziana Anelli et al.   EMBO JOURNAL

Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype–phenotype relationships

(2008) Dale L. Bodian et al.   HUMAN MOLECULAR GENETICS

Cells expressing partially unfolded R789C/p.R989C type II procollagen mutant associated with spondyloepiphyseal dysplasia undergo apoptosis

(2008) Vera Hintze et al.   HUMAN MUTATION

Endoplasmic Reticulum Stress Induces Leptin Resistance

(2008) T. Hosoi et al.   MOLECULAR PHARMACOLOGY

Cell death and endoplasmic reticulum stress: disease relevance and therapeutic opportunities

(2008) Inki Kim et al.   NATURE REVIEWS DRUG DISCOVERY

One step at a time: endoplasmic reticulum-associated degradation

(2008) Shruthi S. Vembar et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

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