Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases

Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines

(2013) Heidi M Sampson et al.   Orphanet Journal of Rare Diseases

Novel pharmacological strategies to treat cystic fibrosis

(2013) John W. Hanrahan et al.   TRENDS IN PHARMACOLOGICAL SCIENCES

An Interaction Map of Endoplasmic Reticulum Chaperones and Foldases

(2012) Gregor Jansen et al.   MOLECULAR & CELLULAR PROTEOMICS

Discovery of an orally active small-molecule irreversible inhibitor of protein disulfide isomerase for ovarian cancer treatment

(2012) S. Xu et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Nosology and classification of genetic skeletal disorders: 2010 revision

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

Loss of matrilin 1 does not exacerbate the skeletal phenotype in a mouse model of multiple epiphyseal dysplasia caused by a Matn3 V194D mutation

(2011) Peter A. Bell et al.   ARTHRITIS AND RHEUMATISM

A novel form of chondrocyte stress is triggered by a COMP mutation causing pseudoachondroplasia

(2011) Farhana Suleman et al.   HUMAN MUTATION

Pseudoachondroplasia and multiple epiphyseal dysplasia: A 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

(2011) Gail C. Jackson et al.   HUMAN MUTATION

Intracellular trafficking and secretion of mouse mesencephalic astrocyte-derived neurotrophic factor

(2011) Kentaro Oh-hashi et al.   MOLECULAR AND CELLULAR BIOCHEMISTRY

Transcriptional Profiling of Chondrodysplasia Growth Plate Cartilage Reveals Adaptive ER-Stress Networks That Allow Survival but Disrupt Hypertrophy

(2011) Trevor L. Cameron et al.   PLoS One

Endoplasmic reticulum stress response in an INS-1 pancreatic β-cell line with inducible expression of a folding-deficient proinsulin

(2010) Taila Hartley et al.   BMC CELL BIOLOGY

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

The matrilins: Modulators of extracellular matrix assembly

(2010) Andreas R. Klatt et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Collagen VI Microfibril Formation Is Abolished by an α2(VI) von Willebrand Factor Type A Domain Mutation in a Patient with Ullrich Congenital Muscular Dystrophy

(2010) Leona D. Tooley et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Functions for the cardiomyokine, MANF, in cardioprotection, hypertrophy and heart failure

(2010) Christopher C. Glembotski   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

CRELD2 is a novel endoplasmic reticulum stress-inducible gene

(2009) Kentaro Oh-hashi et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

The unfolded protein response and its relevance to connective tissue diseases

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

Alteration of the unfolded protein response modifies neurodegeneration in a mouse model of Marinesco–Sjögren syndrome

(2009) Lihong Zhao et al.   HUMAN MOLECULAR GENETICS

Mesencephalic astrocyte-derived neurotrophic factor reduces ischemic brain injury and promotes behavioral recovery in rats

(2009) Mikko Airavaara et al.   JOURNAL OF COMPARATIVE NEUROLOGY

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

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

Targeted Induction of Endoplasmic Reticulum Stress Induces Cartilage Pathology

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

Armet, a UPR-upregulated protein, inhibits cell proliferation and ER stress-induced cell death

(2008) A APOSTOLOU et al.   EXPERIMENTAL CELL RESEARCH

Novel mutations in exon 2 ofMATN3affect residues within the α-helices of the A-domain and can result in the intracellular retention of mutant matrilin-3

(2008) Maryline Fresquet et al.   HUMAN MUTATION