A Rare Kidney Disease To Cure Them All? Towards Mechanism-Based Therapies for Proteinopathies

A Translocation Pathway for Vesicle-Mediated Unconventional Protein Secretion

(2020) Min Zhang et al.   CELL

Clinical and Genetic Spectra of Autosomal Dominant Tubulointerstitial Kidney Disease due to Mutations in UMOD and MUC1

(2020) E. Olinger et al.   KIDNEY INTERNATIONAL

Advancing American Kidney Health (AAKH): Catalyst for Investment in Kidney Diseases Clinical Trials and Precision Medicine

(2020) Kevin John Fowler   Clinical Journal of the American Society of Nephrology

Protein quality control in the endoplasmic reticulum

(2020) Ben P. Phillips et al.   CURRENT OPINION IN CELL BIOLOGY

Nomenclature for kidney function and disease: report of a Kidney Disease: Improving Global Outcomes (KDIGO) Consensus Conference

(2020) Andrew S. Levey et al.   KIDNEY INTERNATIONAL

Architecture and function of human uromodulin filaments in urinary tract infections

(2020) Gregor L. Weiss et al.   SCIENCE

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

Proteomic Profiling of Mammalian COPII and COPI Vesicles

(2019) Frank Adolf et al.   Cell Reports

Personalized medicine in chronic kidney disease by detection of monogenic mutations

(2019) Dervla M Connaughton et al.   NEPHROLOGY DIALYSIS TRANSPLANTATION

Misfolded GPI-anchored proteins are escorted through the secretory pathway by ER-derived factors

(2019) Eszter Zavodszky et al.   eLife

Small Molecule Targets TMED9 and Promotes Lysosomal Degradation to Reverse Proteinopathy

(2019) Moran Dvela-Levitt et al.   CELL

A catalog of genetic loci associated with kidney function from analyses of a million individuals

(2019) Matthias Wuttke et al.   NATURE GENETICS

The protein secretion modulator TMED9 drives CNIH4/TGFα/GLI signaling opposing TMED3-WNT-TCF to promote colon cancer metastases

(2019) Sonakshi Mishra et al.   ONCOGENE

TMP21 in Alzheimer’s Disease: Molecular Mechanisms and a Potential Target

(2019) Kaixin Qiu et al.   Frontiers in Cellular Neuroscience

Chemical Strike against a Dominant-Inherited MUC1-Frameshifted Protein Associated with Progressive Kidney Disease

(2019) Gary Thomas et al.   TRENDS IN MOLECULAR MEDICINE

Autosomal dominant tubulointerstitial kidney disease

(2019) Olivier Devuyst et al.   Nature Reviews Disease Primers

Single cell census of human kidney organoids shows reproducibility and diminished off-target cells after transplantation

(2019) Ayshwarya Subramanian et al.   Nature Communications

Therapies for rare diseases: therapeutic modalities, progress and challenges ahead

(2019) Erik Tambuyzer et al.   NATURE REVIEWS DRUG DISCOVERY

Therapeutic Applications of Cysteamine and Cystamine in Neurodegenerative and Neuropsychiatric Diseases

(2019) Bindu D. Paul et al.   Frontiers in Neurology

Monoallelic Mutations to DNAJB11 Cause Atypical Autosomal-Dominant Polycystic Kidney Disease

(2018) Emilie Cornec-Le Gall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Noninvasive Immunohistochemical Diagnosis and NovelMUC1Mutations Causing Autosomal Dominant Tubulointerstitial Kidney Disease

(2018) Martina Živná et al.   JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY

Patient reported outcome measures in rare diseases: a narrative review

(2018) Anita Slade et al.   Orphanet Journal of Rare Diseases

Cytomegalovirus gp40/ m152 Uses TMED10 as ER Anchor to Retain MHC Class I

(2018) Venkat Raman Ramnarayan et al.   Cell Reports

Endoplasmic reticulum stress and monogenic kidney diseases in precision nephrology

(2018) Sun-Ji Park et al.   PEDIATRIC NEPHROLOGY

Chronic kidney disease epidemic: How do we deal with it?

(2018) Jack K-C Ng et al.   NEPHROLOGY

Diagnostic Utility of Exome Sequencing for Kidney Disease

(2018) Emily E. Groopman et al.   NEW ENGLAND JOURNAL OF MEDICINE

TMED2 Potentiates Cellular IFN Responses to DNA Viruses by Reinforcing MITA Dimerization and Facilitating Its Trafficking

(2018) Ming-Shun Sun et al.   Cell Reports

The Drug Repurposing Hub: a next-generation drug library and information resource

(2017) Steven M Corsello et al.   NATURE MEDICINE

Uromodulin: from physiology to rare and complex kidney disorders

(2017) Olivier Devuyst et al.   Nature Reviews Nephrology

Non-alcoholic fatty liver disease in mice with heterozygous mutation in TMED2

(2017) Wenyang Hou et al.   PLoS One

Pathology of Neurodegenerative Diseases

(2017) Brittany N. Dugger et al.   Cold Spring Harbor Perspectives in Biology

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

(2017) Wenfu Ma et al.   eLife

The Emerging Roles of Early Protein Folding Events in the Secretory Pathway in the Development of Neurodegenerative Maladies

(2017) Tatyana Dubnikov et al.   Frontiers in Neuroscience

Chronic kidney disease

(2017) Paola Romagnani et al.   Nature Reviews Disease Primers

Protein misfolding in neurodegenerative diseases: implications and strategies

(2017) Patrick Sweeney et al.   Translational Neurodegeneration

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

(2017) Céline Schaeffer et al.   PLoS One

Early involvement of cellular stress and inflammatory signals in the pathogenesis of tubulointerstitial kidney disease due to UMOD mutations

(2017) Matteo Trudu 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

Modeling Development and Disease with Organoids

(2016) Hans Clevers   CELL

Multimorbidity in people with chronic kidney disease

(2016) Simon D.S. Fraser et al.   CURRENT OPINION IN NEPHROLOGY AND HYPERTENSION

Protein sorting at the ER–Golgi interface

(2016) Natalia Gomez-Navarro et al.   JOURNAL OF CELL BIOLOGY

Generation of kidney organoids from human pluripotent stem cells

(2016) Minoru Takasato et al.   Nature Protocols

Generation of nephron progenitor cells and kidney organoids from human pluripotent stem cells

(2016) Ryuji Morizane et al.   Nature Protocols

Generation of kidney tubular organoids from human pluripotent stem cells

(2016) Shintaro Yamaguchi et al.   Scientific Reports

A Century of Cholesterol and Coronaries: From Plaques to Genes to Statins

(2015) Joseph L. Goldstein et al.   CELL

Traffic of p24 Proteins and COPII Coat Composition Mutually Influence Membrane Scaffolding

(2015) Jennifer G. D’Arcangelo et al.   CURRENT BIOLOGY

Sec63 and Xbp1 regulate IRE1α activity and polycystic disease severity

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

A systematic analysis of worldwide population-based data on the global burden of chronic kidney disease in 2010

(2015) Katherine T. Mills et al.   KIDNEY INTERNATIONAL

Nephrology research—the past, present and future

(2015) Jürgen Floege et al.   Nature Reviews Nephrology

p24 family proteins: key players in the regulation of trafficking along the secretory pathway

(2015) Noelia Pastor-Cantizano et al.   PROTOPLASMA

ER Stress-Induced Clearance of Misfolded GPI-Anchored Proteins via the Secretory Pathway

(2014) Prasanna Satpute-Krishnan et al.   CELL

A novel genome-wide in vivo screen for metastatic suppressors in human colon cancer identifies the positive WNT-TCF pathway modulators TMED3 and SOX12

(2014) A. Duquet et al.   EMBO Molecular Medicine

Rare inherited kidney diseases: challenges, opportunities, and perspectives

(2014) Olivier Devuyst et al.   LANCET

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

Discovery of the cellular and molecular basis of cholesterol control

(2013) R. Schekman   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

The Gne M712T Mouse as a Model for Human Glomerulopathy

(2012) Sravan Kakani et al.   AMERICAN JOURNAL OF PATHOLOGY

Functional polycystin-1 dosage governs autosomal dominant polycystic kidney disease severity

(2012) Katharina Hopp et al.   JOURNAL OF CLINICAL INVESTIGATION

Glycoprotein Hyposialylation Gives Rise to a Nephrotic-Like Syndrome That Is Prevented by Sialic Acid Administration in GNE V572L Point-Mutant Mice

(2012) Mitutoshi Ito et al.   PLoS One

The Battlefield of Rare Diseases: Where Uncommon Insights Are Common

(2012) W. A. Gahl   Science Translational Medicine

Age-dependent Accumulation of Soluble Amyloid β (Aβ) Oligomers Reverses the Neuroprotective Effect of Soluble Amyloid Precursor Protein-α (sAPPα) by Modulating Phosphatidylinositol 3-Kinase (PI3K)/Akt-GSK-3β Pathway in Alzheimer Mouse Model

(2011) Sebastian Jimenez et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The trafficking protein Tmed2/p24β1 is required for morphogenesis of the mouse embryo and placenta

(2010) Loydie A. Jerome-Majewska et al.   DEVELOPMENTAL BIOLOGY

p24 family type 1 transmembrane proteins are required for insulin biosynthesis and secretion in pancreatic β-cells

(2010) Liling Zhang et al.   FEBS LETTERS

Hereditary Interstitial Kidney Disease

(2010) Anthony J. Bleyer et al.   SEMINARS IN NEPHROLOGY

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 p24 family and selective transport processes at the ER-Golgi interface

(2009) Jeroen R.P.M. Strating et al.   BIOLOGY OF THE CELL

COP-binding sites in p24δ2 are necessary for proper secretory cargo biosynthesis

(2009) Jeroen R.P.M. Strating et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Mammalian GPI-anchored proteins require p24 proteins for their efficient transport from the ER to the plasma membrane

(2008) Satoshi Takida et al.   BIOCHEMICAL JOURNAL

Loss of p24 function in Drosophila melanogaster causes a stress response and increased levels of NF-κB-regulated gene products

(2008) Kara A Boltz et al.   BMC GENOMICS

The yeast p24 complex is required for the formation of COPI retrograde transport vesicles from the Golgi apparatus

(2008) Auxiliadora Aguilera-Romero et al.   JOURNAL OF CELL BIOLOGY

The Cargo Receptors Surf4, Endoplasmic Reticulum-Golgi Intermediate Compartment (ERGIC)-53, and p25 Are Required to Maintain the Architecture of ERGIC and Golgi

(2008) Sandra Mitrovic et al.   MOLECULAR BIOLOGY OF THE CELL

Localization and regional distribution of p23/TMP21 in the brain

(2008) Kulandaivelu S. Vetrivel et al.   NEUROBIOLOGY OF DISEASE