Results 21 to 30 of about 1,485 (158)

CTNS gene analysis emphasizes diagnostic value of eye examination in patients with cystinosis. [PDF]

J Pediatr Genet, 2013
Alcántara-Ortigoza MA, Martínez-Bernal AB, Belmont-Martínez L, Vela-Amieva M, González-del Angel A.   +4 more
europepmc   +2 more sources

WCN25-2709 MUTATIONAL SPECTRUM OF CTNS GENE IN INDIAN CHILDREN WITH NEPHROPATHIC CYSTINOSIS

Kidney International Reports
Vishnu Dev, Girish Bhatt, Sriram Krishnamurthy, Shikha Malik, Amber Kumar, Mahesh Maheshwari, Bhavna Dhingra, Tanya Sharma, Abhijit Pakhare, Ashok Kumar, Bobbity Deepthi, Sudarsan Krishnasamy   +11 more
doaj   +2 more sources

Genetic Landscape of Nephropathic Cystinosis in Russian Children

Frontiers in Genetics, 2022
Nephropathic cystinosis is a rare autosomal recessive disorder characterized by amino acid cystine accumulation and caused by biallelic mutations in the CTNS gene.
K. V. Savostyanov, A. A. Pushkov, O. A. Shchagina, V. V. Maltseva, E. A. Suleymanov, I. S. Zhanin, N. N. Mazanova, A. P. Fisenko, P. S. Mishakova, A. V. Polyakov, E. V. Balanovska, R. A. Zinchenko, A. N. Tsygin   +12 more
doaj   +1 more source

Evaluation of the efficacy of cystinosin supplementation through CTNS mRNA delivery in experimental models for cystinosis

Scientific Reports, 2023
Messenger RNA (mRNA) therapies are emerging in different disease areas, but have not yet reached the kidney field. Our aim was to study the feasibility to treat the genetic defect in cystinosis using synthetic mRNA in cell models and ctns −/− zebrafish ...
Tjessa Bondue, Sante Princiero Berlingerio, Florian Siegerist, Elena Sendino-Garví, Maximilian Schindler, Hans Jacobus Baelde, Sara Cairoli, Bianca Maria Goffredo, Fanny Oliveira Arcolino, Jürgen Dieker, Manoe Jacoba Janssen, Nicole Endlich, Roland Brock, Rik Gijsbers, Lambertus van den Heuvel, Elena Levtchenko   +15 more
doaj   +1 more source

A Leptin Receptor Antagonist Attenuates Adipose Tissue Browning and Muscle Wasting in Infantile Nephropathic Cystinosis-Associated Cachexia

Cells, 2021
Mice lacking the functional cystinosin gene (Ctns−/−), a model of infantile nephropathic cystinosis (INC), exhibit the cachexia phenotype with adipose tissue browning and muscle wasting.
Alex Gonzalez, Wai W. Cheung, Elliot A. Perens, Eduardo A. Oliveira, Arieh Gertler, Robert H. Mak   +5 more
doaj   +1 more source

Hematopoietic Stem Cell Gene Therapy for Cystinosis: From Bench-to-Bedside

Cells, 2021
Cystinosis is an autosomal recessive metabolic disease that belongs to the family of lysosomal storage disorders. The gene involved is the CTNS gene that encodes cystinosin, a seven-transmembrane domain lysosomal protein, which is a proton-driven cystine
Stephanie Cherqui
doaj   +1 more source

Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro. [PDF]

PLoS ONE, 2012
Cystinosis is a rare disease caused by homozygous mutations of the CTNS gene, encoding a cystine efflux channel in the lysosomal membrane. In Ctns knockout mice, the pathologic intralysosomal accumulation of cystine that drives progressive organ damage ...
Diana M Iglesias, Reyhan El-Kares, Anna Taranta, Francesco Bellomo, Francesco Emma, Martine Besouw, Elena Levtchenko, Jaan Toelen, Lambertus van den Heuvel, Leelee Chu, Jing Zhao, Yoon Kow Young, Nicoletta Eliopoulos, Paul Goodyer   +13 more
doaj   +1 more source

Urine-Derived Kidney Progenitor Cells in Cystinosis

Cells, 2022
Nephropathic cystinosis is an inherited lysosomal storage disorder caused by pathogenic variants in the cystinosin (CTNS) gene and is characterized by the excessive shedding of proximal tubular epithelial cells (PTECs) and podocytes into urine ...
Koenraad Veys, Sante Princiero Berlingerio, Dries David, Tjessa Bondue, Katharina Held, Ahmed Reda, Martijn van den Broek, Koen Theunis, Mirian Janssen, Elisabeth Cornelissen, Joris Vriens, Francesca Diomedi-Camassei, Rik Gijsbers, Lambertus van den Heuvel, Fanny O. Arcolino, Elena Levtchenko   +15 more
doaj   +1 more source

Vitamin D repletion ameliorates adipose tissue browning and muscle wasting in infantile nephropathic cystinosis‐associated cachexia

Journal of Cachexia, Sarcopenia and Muscle, 2020
Background Ctns−/− mice, a mouse model of infantile nephropathic cystinosis, exhibit hypermetabolism with adipose tissue browning and profound muscle wasting. Ctns−/− mice are 25(OH)D3 and 1,25(OH)2D3 insufficient.
Wai W. Cheung, Sheng Hao, Zhen Wang, Wei Ding, Ronghao Zheng, Alex Gonzalez, Jian‐Ying Zhan, Ping Zhou, Shiping Li, Mary C. Esparza, Hal M. Hoffman, Richard L. Lieber, Robert H. Mak   +12 more
doaj   +1 more source

CTNS mRNA molecular analysis revealed a novel mutation in a child with infantile nephropathic cystinosis: a case report

BMC Nephrology, 2019
Background Cystinosis is an autosomal recessive lysosomal storage disorder characterized by accumulation of cystine in lysosomes throughout the body. Cystinosis is caused by mutations in the CTNS gene that encodes the lysosomal cystine carrier protein ...
Svetlana Papizh, Victoria Serzhanova, Alexandra Filatova, Mikhail Skoblov, Vyacheslav Tabakov, Lambert van den Heuvel, Elena Levtchenko, Larisa Prikhodina   +7 more
doaj   +1 more source