Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease
出版年份 2023 全文链接
标题
Allelic effects on uromodulin aggregates drive autosomal dominant tubulointerstitial kidney disease
作者
关键词
-
出版物
EMBO Molecular Medicine
Volume -, Issue -, Pages -
出版商
EMBO
发表日期
2023-10-27
DOI
10.15252/emmm.202318242
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- ER‐to‐lysosome‐associated degradation in a nutshell: mammalian, yeast, and plant ER‐phagy as induced by misfolded proteins
- (2023) Mikhail Rudinskiy et al. FEBS LETTERS
- Autophagy system as a potential therapeutic target for neurodegenerative diseases
- (2022) Mengying Cui et al. NEUROCHEMISTRY INTERNATIONAL
- The AUTOTAC chemical biology platform for targeted protein degradation via the autophagy-lysosome system
- (2022) Chang Hoon Ji et al. Nature Communications
- Structure of the decoy module of human glycoprotein 2 and uromodulin and its interaction with bacterial adhesin FimH
- (2022) Alena Stsiapanava et al. NATURE STRUCTURAL & MOLECULAR BIOLOGY
- An intermediate-effect size variant in UMOD confers risk for chronic kidney disease
- (2022) Eric Olinger et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Structure of pathological TDP-43 filaments from ALS with FTLD
- (2021) Diana Arseni et al. NATURE
- Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1
- (2020) E. Olinger et al. KIDNEY INTERNATIONAL
- Architecture and function of human uromodulin filaments in urinary tract infections
- (2020) Gregor L. Weiss et al. SCIENCE
- Reporting animal research: Explanation and elaboration for the ARRIVE guidelines 2.0
- (2020) Nathalie Percie du Sert et al. PLOS BIOLOGY
- Genetic and Clinical Predictors of Age of ESKD in Individuals With Autosomal Dominant Tubulointerstitial Kidney Disease Due to UMOD Mutations
- (2020) Kendrah Kidd et al. Kidney International Reports
- Digital Image Analysis of Picrosirius Red Staining: A Robust Method for Multi-Organ Fibrosis Quantification and Characterization
- (2020) Guillaume E. Courtoy et al. Biomolecules
- NetworkAnalyst 3.0: a visual analytics platform for comprehensive gene expression profiling and meta-analysis
- (2019) Guangyan Zhou et al. NUCLEIC ACIDS RESEARCH
- Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy
- (2019) Moran Dvela-Levitt et al. CELL
- Autosomal dominant tubulointerstitial kidney disease
- (2019) Olivier Devuyst et al. Nature Reviews Disease Primers
- Hepsin-mediated Processing of Uromodulin is Crucial for Salt-sensitivity and Thick Ascending Limb Homeostasis
- (2019) Eric Olinger et al. Scientific Reports
- The Urinary Excretion of Uromodulin is Regulated by the Potassium Channel ROMK
- (2019) Guglielmo Schiano et al. Scientific Reports
- Uromodulin is expressed in the distal convoluted tubule, where it is critical for regulation of the sodium chloride cotransporter NCC
- (2018) Natsuko Tokonami et al. KIDNEY INTERNATIONAL
- Direct imaging of uncoated biological samples enables correlation of super-resolution and electron microscopy data
- (2018) José María Mateos et al. Scientific Reports
- Diagnostic Utility of Exome Sequencing for Kidney Disease
- (2018) Emily E. Groopman et al. NEW ENGLAND JOURNAL OF MEDICINE
- Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease
- (2018) Christine Gast et al. BMC Nephrology
- Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis
- (2017) Bryce G. Johnson et al. JOURNAL OF CLINICAL INVESTIGATION
- Uromodulin: from physiology to rare and complex kidney disorders
- (2017) Olivier Devuyst et al. Nature Reviews Nephrology
- A novel homozygous UMOD mutation reveals gene dosage effects on uromodulin processing and urinary excretion
- (2017) Noel Edwards et al. NEPHROLOGY DIALYSIS TRANSPLANTATION
- Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response
- (2017) Céline Schaeffer et al. PLoS One
- Endoplasmic reticulum stress drives proteinuria-induced kidney lesions via Lipocalin 2
- (2016) Khalil El Karoui et al. Nature Communications
- Neuronal Aggregates: Formation, Clearance, and Spreading
- (2015) Junghyun Lim et al. DEVELOPMENTAL CELL
- The serine protease hepsin mediates urinary secretion and polymerisation of Zona Pellucida domain protein uromodulin
- (2015) Martina Brunati et al. eLife
- Autosomal dominant tubulointerstitial kidney disease: of names and genes
- (2014) Anthony J. Bleyer et al. KIDNEY INTERNATIONAL
- 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
- Common noncoding UMOD gene variants induce salt-sensitive hypertension and kidney damage by increasing uromodulin expression
- (2013) Matteo Trudu et al. NATURE MEDICINE
- A primary culture system of mouse thick ascending limb cells with preserved function and uromodulin processing
- (2013) Bob Glaudemans et al. PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY
- Novel Cell- and Tissue-Based Assays for Detecting Misfolded and Aggregated Protein Accumulation Within Aggresomes and Inclusion Bodies
- (2010) Dee Shen et al. CELL BIOCHEMISTRY AND BIOPHYSICS
- 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
- Lipocalin 2 is essential for chronic kidney disease progression in mice and humans
- (2010) Amandine Viau et al. JOURNAL OF CLINICAL INVESTIGATION
- Inactivation of Drosophila Huntingtin affects long-term adult functioning and the pathogenesis of a Huntington's disease model
- (2009) S. Zhang et al. Disease Models & Mechanisms
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started