Article
Physiology
Jennifer A. Hollywood, Prasanna K. Kallingappa, Pang Yuk Cheung, Renita M. Martis, Sree Sreebhavan, Robert D. Atiola, Aparajita Chatterjee, Emma J. Buckels, Brya G. Matthews, Paula M. Lewis, Alan J. Davidson
Summary: This study generated a new rat model of cystinosis using gene editing technology and found that this model more faithfully recapitulates the human condition of the disease. This new model is of great importance for conducting preclinical drug testing and advancing cystinosis research.
AMERICAN JOURNAL OF PHYSIOLOGY-RENAL PHYSIOLOGY
(2022)
Article
Plant Sciences
Bowen Chen, Changrong Li, Yingying Chen, Shengkan Chen, Yufei Xiao, Qi Wu, Lianxiang Zhong, Kaiyong Huang
Summary: The study identified proteins involved in early somatic embryogenesis (SE) of two Eucalyptus species, and highlighted potential regulatory networks related to high regeneration potential in Eucalyptus.
Article
Endocrinology & Metabolism
Koenraad Veys, Ward Zadora, Katharina Hohenfellner, Detlef Bockenhauer, Mirian C. H. Janssen, Patrick Niaudet, Aude Servais, Rezan Topaloglu, Martine Besouw, Robert Novo, Dieter Haffner, Nele Kanzelmeyer, Lars Pape, Elke Wuhl, Erik Harms, Atif Awan, Przemyslaw Sikora, Gema Ariceta, Bert van den Heuvel, Elena Levtchenko
Summary: In infantile nephropathic cystinosis, presymptomatic treatment with cysteamine improves the renal outcome, which justifies the inclusion of cystinosis into newborn screening programs.
JOURNAL OF INHERITED METABOLIC DISEASE
(2023)
Article
Pediatrics
Nour Elkhateeb, Rasha Selim, Neveen A. Soliman, Fatma M. Atia, Ihab Ibrahim Abouelwoun, Mohamed A. Elmonem, Rasha Helmy
Summary: The study identified early neuromuscular complications in patients with nephropathic cystinosis, including proximal skeletal myopathy and neuropathy. Patients with abnormal neuromuscular features were significantly older than the unaffected group.
PEDIATRIC NEPHROLOGY
(2022)
Article
Clinical Neurology
Stacey Sullivan, Natalie Grant, Colleen Hammond, William S. David, Florian Eichler, Reza Sadjadi
Summary: This study aims to better characterize swallowing impairments in patients with nephropathic cystinosis using MBSImP analysis, identifying oral and pharyngeal stage dysphagia as crucial to these patients.
Article
Endocrinology & Metabolism
Katharina Vill, Wolfgang Mueller-Felber, Timotheus Landfarth, Christian Koeppl, Nadine Herzig, Christine Knerr, Heike Holla, Gunther Steidle, Erik Harms, Katharina Hohenfellner
Summary: This study investigated neuromuscular complications in patients with infantile nephropathic cystinosis and found that physical performance was below average in all patients. Some patients had mild weakness in neck flexors and abdominal rectus muscles, while severe weakness and specific neuromuscular conditions were not directly related to cystinosis. Muscle ultrasound, electromyography, and cysteine levels were important factors in the study results.
JOURNAL OF INHERITED METABOLIC DISEASE
(2022)
Article
Biology
Junko Y. Toshima, Ayana Tsukahara, Makoto Nagano, Takuro Tojima, Daria E. Siekhaus, Akihiko Nakano, Jiro Toshima, Sean Munro
Summary: Budding yeast possesses an independent endocytic early/sorting compartment within the trans-Golgi network (TGN) that sorts endocytic cargos. This compartment functions as the target for endocytic vesicles and is involved in recycling to the plasma membrane or transport to the Rab5 endosomal compartment. The Tlg2p protein, a homolog of yeast syntaxin, resides in this compartment and acts as a Q-SNARE for endocytic vesicles.
Article
Multidisciplinary Sciences
Kevin R. Amses, D. Rabern Simmons, Joyce E. Longcore, Stephen J. Mondo, Kensuke Seto, Gustavo H. Jeronimo, Anne E. Bonds, C. Alisha Quandt, William J. Davis, Ying Chang, Brian A. Federici, Alan Kuo, Kurt LaButti, Jasmyn Pangilinan, William Andreopoulos, Andrew Tritt, Robert Riley, Hope Hundley, Jenifer Johnson, Anna Lipzen, Kerrie Barry, B. Franz Lang, Christina A. Cuomo, Nicolas E. Buchler, Igor V. Grigoriev, Joseph W. Spatafora, Jason E. Stajich, Timothy Y. James
Summary: By analyzing the genomes of flagellated fungi, we identified major evolutionary trends in non-Dikarya fungi. Our study revealed five lineages of flagellated fungi and found that some of these lineages have diploid-dominant life cycles. Additionally, we observed the loss of ancestral traits shared with animals across these fungi lineages. These findings caution against assuming that traits observed in Dikarya are representative of other fungal lineages.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Pediatrics
Anna Bjerre, Sonja Amdal Aase, Maria Radtke, Christian Siva, Helga Gudmundsdottir, Brita Forsberg, Berit Woldseth, Damien Brackman
Summary: This long-term retrospective study examined the effects of transitioning from immediate release (IR) to extended release (ER) formulation of cysteamine in Norwegian patients with nephropathic cystinosis. The results showed stable white blood cell cystine levels and improved disease control with the use of ER-cysteamine.
PEDIATRIC NEPHROLOGY
(2023)
Article
Urology & Nephrology
Seun Lashilola, Weiwei Xu, Khashayar Azimpour, Michael McCarthy, Sara Carlot, David Game, Judith van der Voort
Summary: This study evaluates the impact of compliance on lifetime costs of treating kidney failure (KF) in patients with nephropathic cystinosis (NC). The results show that improving treatment compliance with oral cysteamine can reduce the lifelong costs of KF.
Review
Biochemistry & Molecular Biology
Yagmur Azbazdar, Edward M. De Robertis
Summary: Fertilization triggers cytoplasmic movements that stabilize beta-catenin on the dorsal side of the frog embryo. The Hwa protein, translated specifically on the dorsal side, acts as a crucial determinant for beta-catenin stabilization. Membrane trafficking and lysosomal activity play critical roles in the early asymmetries of vertebrate embryonic development.
Article
Biochemical Research Methods
Ping-Hsien Chen, Hiu-Ki Lai, Yi-Chen Yeh, Kuo-Wei Chang, Ming-Chih Hou, Wen-Chuan Kuo
Summary: Polarization-sensitive optical coherence tomography (PS-OCT) has shown effectiveness in diagnosing esophageal squamous cell carcinoma (ESCC) with high accuracy, regardless of animal or human specimens. It can draw and determine the contour and margin of the tumor, which is consistent with the histology results.
BIOMEDICAL OPTICS EXPRESS
(2022)
Article
Endocrinology & Metabolism
Katharina Hohenfellner, Christina Niessl, Dieter Haffner, Jun Oh, Christine Okorn, Katja Palm, Karl-Peter Schlingmann, Simone Wygoda, William Allen Gahl
Summary: Nephropathic cystinosis is a rare disease that can be alleviated by early administration of cysteamine. A longitudinal evaluation of 6 infants diagnosed and treated early showed that those who had good compliance with treatment and consistently low leucocyte cystine levels maintained normal kidney function for many years.
MOLECULAR GENETICS AND METABOLISM
(2022)
Article
Cell & Tissue Engineering
Bing Li, Yu Cheng, Yaqi Yin, Jing Xue, Songyan Yu, Jieqing Gao, Jiejie Liu, Li Zang, Yiming Mu
Summary: The study observed beta-cell dedifferentiation as the primary contributor to T2DM, with UC-MSC therapy showing promising results in improving glucose homeostasis and reversing beta-cell dedifferentiation, particularly with greater effects in the early stages.
Article
Environmental Sciences
Miao Yu, Peijun Tu, Georgia Dolios, Priyanthi S. Dassanayake, Heather Volk, Craig Newschaffer, M. Daniele Fallin, Lisa Croen, Kristen Lyall, Rebecca Schmidt, Irva Hertz-Piccioto, Christine Austin, Manish Arora, Lauren M. Petrick
Summary: By performing untargeted metabolomics on micro-dissected layers from naturally shed deciduous teeth, researchers identified 390 unique compounds linked to 256 health conditions. Differential analysis revealed 267 significantly different metabolites between prenatal and postnatal tooth fractions, with 21 metabolites exclusive to the prenatal fraction.
ENVIRONMENT INTERNATIONAL
(2021)
Article
Transplantation
Sergio C. Lopez-Garcia, Mallory L. Downie, Ji Soo Kim, Olivia Boyer, Stephen B. Walsh, Tom Nijenhuis, Svetlana Papizh, Pallavi Yadav, Ben C. Reynolds, Stephane Decramer, Martine Besouw, Manel Perello Carrascosa, Claudio La Scola, Francesco Trepiccione, Gema Ariceta, Aurelie Hummel, Claire Dossier, John A. Sayer, Martin Konrad, Mandy G. Keijzer-Veen, Atif Awan, Biswanath Basu, Dominique Chauveau, Leire Madariaga, Linda Koster-Kamphuis, Monica Furlano, Miriam Zacchia, Pierluigi Marzuillo, Yincent Tse, Ismail Dursun, Ayse Seda Pinarbasi, Despoina Tramma, Ewout J. Hoorn, Ibrahim Gokce, Kathleen Nicholls, Loai A. Eid, Lisa Sartz, Michael Riordan, Nakysa Hooman, Nikoleta Printza, Olivier Bonny, Pedro Arango Sancho, Raphael Schild, Rajiv Sinha, Stefano Guarino, Victo Martinez Jimenez, Lidia Rodriguez Pena, Hendrica Belge, Olivier Devuyst, Tanja Wlodkowski, Francesco Emma, Elena Levtchenko, Nine V. A. M. Knoers, Daniel G. Bichet, Franz Schaefer, Robert Kleta, European NDI Consortium, Detlef Bockenhauer
Summary: The study of a large NDI cohort showed overall favorable outcomes with normal adult height and mild to moderate chronic kidney disease. However, lower educational achievement and the presence of urological and mental health problems in over half of the patients were noted.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Article
Cell Biology
Laura Rita Rega, Ester De Leo, Daniela Nieri, Alessandro Luciani
Summary: This review discusses the regulation of kidney proximal tubule cell function by endolysosomes and how endolysosome-related diseases can lead to kidney disorders. Understanding these mechanisms can contribute to the discovery and development of new therapeutics.
Article
Urology & Nephrology
Anna Koettgen, Emilie Cornec-Le Gall, Jan Halbritter, Krzysztof Kiryluk, Andrew J. Mallett, Rulan S. Parekh, Hila Milo Rasouly, Matthew G. Sampson, Adrienne Tin, Corinne Antignac, Elisabet Ars, Carsten Bergmann, Anthony J. Bleyer, Detlef Bockenhauer, Olivier Devuyst, Jose C. Florez, Kevin J. Fowler, Nora Franceschini, Masafumi Fukagawa, Daniel P. Gale, Rasheed A. Gbadegesin, David B. Goldstein, Morgan E. Grams, Anna Greka, Oliver Gross, Lisa M. Guay-Woodford, Peter C. Harris, Julia Hoefele, Adriana M. Hung, Nine V. A. M. Knoers, Jeffrey B. Kopp, Matthias Kretzler, Matthew B. Lanktree, Beata S. Lipska-Zietkiewicz, Kathleen Nicholls, Kandai Nozu, Akinlolu Ojo, Afshin Parsa, Cristian Pattaro, York Pei, Martin R. Pollak, Eugene P. Rhee, Simone Sanna-Cherchi, Judy Savige, John A. Sayer, Francesco Scolari, John R. Sedor, Xueling Sim, Stefan Somlo, Katalin Susztak, Bamidele O. Tayo, Roser Torra, Albertien M. van Eerde, Andre Weinstock, Cheryl A. Winkler, Matthias Wuttke, Hong Zhang, Jennifer M. King, Michael Cheung, Michel Jadoul, Wolfgang C. Winkelmayer, Ali G. Gharavi
Summary: Genetic research plays an important role in the clinical management of kidney diseases, providing insights for diagnosis, treatment selection, and family counseling. However, accurate interpretation of genetic data remains a challenge, highlighting the need to enhance genetic literacy among healthcare professionals and develop guidelines for testing and treatment to optimize the use of genetics in nephrology.
KIDNEY INTERNATIONAL
(2022)
Editorial Material
Urology & Nephrology
Marine Berquez, Olivier Devuyst
KIDNEY INTERNATIONAL
(2022)
Biographical-Item
Urology & Nephrology
Yves Pirson, Olivier Devuyst
KIDNEY INTERNATIONAL
(2022)
Article
Transplantation
Helena Baechle, Peggy Sekula, Pascal Schlosser, Inga Steinbrenner, Yurong Cheng, Fruzsina Kotsis, Heike Meiselbach, Helena Stockmann, Sebastian Schoenherr, Kai-Uwe Eckardt, Olivier Devuyst, Juergen Scherberich, Anna Koettgen, Ulla T. Schultheiss
Summary: This study aimed to explore metabolites associated with uromodulin concentrations and evaluate their association with the progression of chronic kidney disease (CKD) and adverse kidney events. The study found that higher levels of urinary and serum uromodulin were associated with a lower risk of adverse kidney events, suggesting a potential protective role of functional nephrons in CKD outcomes.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Editorial Material
Pediatrics
Romain Berthaud, Laurence Heidet, Mehdi Oualha, Roselyne Brat, Deborah Talmud, Florentine Garaix, Marion Rabant, Veronique Fremeaux-Bacchi, Corinne Antignac, Olivia Boyer, Guillaume Dorval
PEDIATRIC NEPHROLOGY
(2022)
Editorial Material
Pediatrics
Romain Berthaud, Laurence Heidet, Mehdi Oualha, Roselyne Brat, Deborah Talmud, Florentine Garaix, Marion Rabant, Veronique Fremeaux-Bacchi, Corinne Antignac, Olivia Boyer, Guillaume Dorval
PEDIATRIC NEPHROLOGY
(2022)
Review
Urology & Nephrology
Rui Santos, Max Burgi, Jose Maria Mateos, Alessandro Luciani, Johannes Loffing
Summary: The kidney is a complex organ responsible for maintaining water, ion, and solute balance. The nephron, composed of the renal corpuscle and tubular segments, is the functional unit of the kidney. The tissue architecture of the kidney plays a crucial role in its proper function, and kidney disease is often associated with structural abnormalities. Traditional microscopic analysis of 2-dimensional tissue sections lacks important 3-dimensional spatial information. Recent advancements in tissue preparation and imaging technologies, combined with machine-learning algorithms, offer new options for large-scale automated analysis of kidney structure and function.
KIDNEY INTERNATIONAL
(2022)
Article
Urology & Nephrology
Olivier Devuyst, Krzysztof Kiryluk
KIDNEY INTERNATIONAL
(2023)
Review
Cell Biology
Svenja Aline Keller, Alessandro Luciani
Summary: Mitochondria are essential for maintaining cellular and organismal homeostasis, but dysregulation of the mitochondrial network can lead to various hereditary and acquired diseases. This review focuses on the biological functions of mitochondria-localized enzymes and discusses the pathophysiology of mitochondrial dysfunction and potential therapeutic strategies.
Article
Genetics & Heredity
Marie Dirix, Olivier Gribouval, Christelle Arrondel, Saadia Benjelloun, Olivia Boyer, Marina Charbit, Corinne Antignac, Laurence Heidet, Guillaume Dorval
Summary: Whole-genome sequencing allows identification of multiple variants in non-coding regions, but the interpretation of these variants is complicated due to their large number. This study compares three different tools, including a newly developed targeted RNA sequencing, to explore the splicing effect of intronic variations in the NPHS2 gene, which is implicated in a genetic disorder.
Article
Transplantation
Ines P. D. Costa, Nicolas Hautem, Gugliemo Schiano, Shinichi Uchida, Tomoya Nishino, Olivier Devuyst
Summary: The study reveals that AQP1 and AQP7 are abundantly expressed in the peritoneal membrane. While AQP1 facilitates water transport during peritoneal dialysis, the role of AQP7 in glycerol transport during fasting is unknown. The findings show that fasting increases the expression of AQP1 and AQP7 in the peritoneum, leading to structural and functional changes that improve fluid removal.
NEPHROLOGY DIALYSIS TRANSPLANTATION
(2023)
Editorial Material
Cell Biology
Alessandro Luciani, Olivier Devuyst
Summary: This study identified the role of CTNS deficiency in triggering dedifferentiation and dysfunction of PT cells, leading to kidney disease and metabolic complications. It was found that CTNS deficiency stimulates activation of the MTORC1 pathway, diverting cell trajectories towards growth and proliferation, disrupting homeostasis and specialized functions. Treatment with low doses of rapamycin can correct lysosome function and differentiation, ameliorating PT dysfunction in preclinical models of cystinosis.
Review
Urology & Nephrology
Svenja A. Keller, Zhiyong Chen, Anna Gaponova, Mikhail Korzinkin, Marine Berquez, Alessandro Luciani
Summary: Efficient reabsorption of nutrients in the kidney's proximal tubule is crucial for maintaining balance. Disruptions in this process can lead to tubular dysfunction and, if untreated, chronic kidney disease. Studying inherited disorders has provided insights and potential drug targets for therapeutic discovery. This review explores hereditary proximal tubulopathies as a model for kidney homeostasis disorders and discusses factors contributing to tubular dysfunction. The current landscape of drug discovery approaches and potential therapeutic agents is also summarized.
KIDNEY INTERNATIONAL
(2023)