Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response

Mitochondrial Dysregulation Secondary to Endoplasmic Reticulum Stress in Autosomal Dominant Tubulointerstitial Kidney Disease – UMOD (ADTKD-UMOD)

(2017) Elisabeth Kemter et al.   Scientific Reports

Heterozygous Loss-of-Function SEC61A1 Mutations Cause Autosomal-Dominant Tubulo-Interstitial and Glomerulocystic Kidney Disease with Anemia

(2016) Nikhita Ajit Bolar et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mesencephalic Astrocyte-Derived Neurotrophic Factor as a Urine Biomarker for Endoplasmic Reticulum Stress-Related Kidney Diseases

(2016) Y. Kim et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Protein misfolding in the endoplasmic reticulum as a conduit to human disease

(2016) Miao Wang et al.   NATURE

Imaging of single cell responses to ER stress indicates that the relative dynamics of IRE1/XBP1 and PERK/ATF4 signalling rather than a switch between signalling branches determine cell survival

(2015) F Walter et al.   CELL DEATH AND DIFFERENTIATION

Sec63 and Xbp1 regulate IRE1α activity and polycystic disease severity

(2015) Sorin V. Fedeles et al.   JOURNAL OF CLINICAL INVESTIGATION

Essential Role of X-Box Binding Protein-1 during Endoplasmic Reticulum Stress in Podocytes

(2015) H. Hassan et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Deep Sequencing in Microdissected Renal Tubules Identifies Nephron Segment-Specific Transcriptomes

(2015) J. W. Lee et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Autosomal dominant tubulointerstitial kidney disease: diagnosis, classification, and management—A KDIGO consensus report

(2015) Kai-Uwe Eckardt et al.   KIDNEY INTERNATIONAL

Proteostasis control by the unfolded protein response

(2015) Claudio Hetz et al.   NATURE CELL BIOLOGY

limma powers differential expression analyses for RNA-sequencing and microarray studies

(2015) Matthew E. Ritchie et al.   NUCLEIC ACIDS RESEARCH

Liver-directed lentiviral gene therapy in a dog model of hemophilia B

(2015) Alessio Cantore et al.   Science Translational Medicine

Targeting the IRE1α–XBP1 branch of the unfolded protein response in human diseases

(2015) Dadi Jiang et al.   SEMINARS IN CANCER BIOLOGY

The IRE1α/XBP1s Pathway Is Essential for the Glucose Response and Protection of β Cells

(2015) Justin R. Hassler et al.   PLOS BIOLOGY

The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin

(2015) Martina Brunati et al.   eLife

HTSeq--a Python framework to work with high-throughput sequencing data

(2014) S. Anders et al.   BIOINFORMATICS

Apoptosis induced by an uromodulin mutant C112Y and its suppression by topiroxostat

(2014) Sulistiyati Bayu Utami et al.   Clinical and Experimental Nephrology

No Amelioration of Uromodulin Maturation and Trafficking Defect by Sodium 4-Phenylbutyratein Vivo

(2014) Elisabeth Kemter et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

STRING v10: protein–protein interaction networks, integrated over the tree of life

(2014) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

Association between Genotype and Phenotype in Uromodulin-Associated Kidney Disease

(2013) J. L. Moskowitz et al.   Clinical Journal of the American Society of Nephrology

Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice

(2013) Elisabeth Kemter et al.   HUMAN MOLECULAR GENETICS

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

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

Laminin  2 Gene Missense Mutation Produces Endoplasmic Reticulum Stress in Podocytes

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

Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing

(2013) Andrew Kirby et al.   NATURE GENETICS

Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression

(2013) Matteo Trudu et al.   NATURE MEDICINE

STAR: ultrafast universal RNA-seq aligner

(2012) Alexander Dobin et al.   BIOINFORMATICS

Targeting the UPR transcription factor XBP1 protects against Huntington's disease through the regulation of FoxO1 and autophagy

(2012) Rene L. Vidal et al.   HUMAN MOLECULAR GENETICS

Uromodulin Triggers IL-1 -Dependent Innate Immunity via the NLRP3 Inflammasome

(2012) M. N. Darisipudi et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Urinary secretion and extracellular aggregation of mutant uromodulin isoforms

(2012) Céline Schaeffer et al.   KIDNEY INTERNATIONAL

Endoplasmic Reticulum Stress in UMOD-Related Kidney Disease: A Human Pathologic Study

(2011) Julien Adam et al.   AMERICAN JOURNAL OF KIDNEY DISEASES

Molecular and Cellular Effects of Tamm-Horsfall Protein Mutations and Their Rescue by Chemical Chaperones

(2011) Lijie Ma et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The rediscovery of uromodulin (Tamm–Horsfall protein): from tubulointerstitial nephropathy to chronic kidney disease

(2011) Luca Rampoldi et al.   KIDNEY INTERNATIONAL

The Unfolded Protein Response: From Stress Pathway to Homeostatic Regulation

(2011) P. Walter et al.   SCIENCE

A transgenic mouse model for uromodulin-associated kidney diseases shows specific tubulo-interstitial damage, urinary concentrating defect and renal failure

(2010) Ilenia Bernascone et al.   HUMAN MOLECULAR GENETICS

Association of Variants at UMOD with Chronic Kidney Disease and Kidney Stones—Role of Age and Comorbid Diseases

(2010) Daniel F. Gudbjartsson et al.   PLoS Genetics

Dominant Renin Gene Mutations Associated with Early-Onset Hyperuricemia, Anemia, and Chronic Kidney Failure

(2009) Martina Živná et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Sequence Alignment/Map format and SAMtools

(2009) H. Li et al.   BIOINFORMATICS

Establishment of conditionally immortalized epithelial cell lines from the intestinal tissue of adult normal and transgenic mice

(2008) Robert H. Whitehead et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

Protective effect against Parkinson's disease-related insults through the activation of XBP1

(2008) Megumi Sado et al.   BRAIN RESEARCH

Uromodulin storage disease

(2007) S.H. Nasr et al.   KIDNEY INTERNATIONAL