Results 1 to 10 of about 2,265 (111)

An Isogenic Human Myoblast Cell Model for Cystinosis Myopathy Reveals Alteration of Key Myogenic Regulatory Proteins [PDF]

Journal of Cachexia, Sarcopenia and Muscle
Background Cystinosis is a rare multisystem, autosomal recessive disease caused by dysfunction or loss of cystinosin (CTNS), which results in lysosomal cystine accumulation, primarily affecting the kidneys.
Louise Medaer, Roger Mora, Zhuoheng Zhou, Nefele Giarratana, Laura Yedigaryan, Rita La Rovere, Elena Levtchenko, Vincent Mouly, Els Verhoeyen, Sebastiaan Eeltink, Achim Treumann, Tim Vervliet, Maurilio Sampaolesi, Rik Gijsbers   +13 more
doaj   +2 more sources

Cystinosin regulates Na+/H+ exchanger 3 trafficking and function in kidney proximal tubular cells [PDF]

EMBO Reports
Cystinosis is a systemic lysosomal storage disease resulting from mutations in the CTNS gene encoding the lysosomal cystine transporter cystinosin, leading to cystine accumulation in all organs.
Veenita Khare, Jean-Claude Farré, Mouad Ait Kbaich, Céline J Rocca, Cynthia Tang, Xuan Ma, Kavya Biederman, Ioli Mathur, Rafael A Badell-Grau, Anusha Sivakumar, Rola Chen, Sergio D Catz, Stephanie Cherqui   +12 more
doaj   +2 more sources

Integrated transcriptomic and tissue-validation analyses identify palmitoylation-associated biomarkers linked to sphingolipid metabolism and immune remodeling in psoriasis [PDF]

Frontiers in Immunology
BackgroundPsoriasis is a chronic immune-mediated inflammatory skin disease characterized by epidermal dysfunction, aberrant keratinocyte activation, and complex immune remodeling. Although lipid dysregulation has increasingly been implicated in psoriasis,
Qingqiong Luo, Rongcan Shi, Rongcan Shi, Dandan Yang, Yijie Tang, Qinghui Xie, Yuling Shi, Yuling Shi, Fenyong Sun   +8 more
doaj   +2 more sources

Molecular characterization of cystinosis patients: predominance of the CTNS c.829dup mutation in Center of Tunisia [PDF]

BMC Genomic Data
Background Cystinosis is a lysosomal storage disease caused by the accumulation of intralysosomal cystine in different tissues and organs including: brain, cornea, kidneys, liver and, pancreas.
Chayma Sahli, Sameh Mabrouk, Nesrine Jemmeli, Salsabil Nouir, Roua Ltaifa, Taieb Messaoud, Hassen Ben Abdennebi, Salima Ferchichi, Mohamed Ghorbel, Sandrine Laradi, Latifa Chkioua   +10 more
doaj   +2 more sources

Intermediate type cystinosis with a novel CTNS variant in a child: a case report

Journal of Rare Diseases
Cystinosis is a rare lysosomal storage disorder caused by a variant in the CTNS gene that leads to the accumulation of cystine in the body’s tissues.
Mugahid Elamin
exaly   +2 more sources

Novel mechanism for tubular injury in nephropathic cystinosis [PDF]

eLife
Understanding the unique susceptibility of the human kidney to pH dysfunction and injury in cystinosis is paramount to developing new therapies to preserve renal function.
Swastika Sur, Maggie Kerwin, Silvia Pineda, Poonam Sansanwal, Tara K Sigdel, Marina Sirota, Minnie M Sarwal   +6 more
doaj   +2 more sources

Ultrasound in cervical traumatic neuromas after neck dissection in thyroid carcinoma patients: descriptive analysis and diagnostic accuracy [PDF]

Archives of Endocrinology and Metabolism, 2023
Objective: Cervical traumatic neuromas (CTNs) may appear after lateral neck dissection for metastatic thyroid carcinoma. If they are misdiagnosed as metastatic lymph nodes (LNs) in follow-up neck ultrasound (US), unnecessary and uncomfortable fine-needle
Vinicius Neves Marcos, Debora Lucia Seguro Danilovic, Fernando Linhares Pereira, Miriam Harumi Tsunemi, Marco Aurelio Vamondes Kulcsar, Ana Oliveira Hoff, Regina Barros Domingues, Maria Cristina Chammas, Ricardo Miguel Costa de Freitas   +8 more
doaj   +1 more source

Biology of Cardiac Troponins: Emphasis on Metabolism

Biology, 2022
Understanding of the biology of endo- and exogenous molecules, in particular their metabolism, is not only of great theoretical importance, but also of high practical significance, since many molecules serve as drug targets or markers for the laboratory ...
Aleksey M. Chaulin
doaj   +1 more source

Features of the Metabolisms of Cardiac Troponin Molecules—Part 1: The Main Stages of Metabolism, Release Stage

Current Issues in Molecular Biology, 2022
Cardiac troponins (cTns) have long been the most valuable and specific biomarkers for detecting ischemic myocardial cells (MCs) injury, which is one of the key signs of myocardial infarction (MI).
Aleksey Michailovich Chaulin
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