Results 71 to 80 of about 2,618 (150)

AAV8 gene therapy for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) in a patient's liver maintained ex situ for 9 days

Clinical Medicine
Introduction: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare genetic disorder caused by mutations in TYMP.1 This results in nucleoside accumulation, mitochondrial damage and progressive gastrointestinal and neurological ...
Teresa Brevini, Lisa Swift, Helen Reynolds, John Ong, Richard Stopforth, Yogeshkumar Malam, Harry Spiers, AnnaPaterson, Adam Duckworth, Arthur Kaser, Vassillis Kosmoliaptsis, Ramon Marti, Jelle van den Ameele, Gwilym Webb, Christopher Watson, Andrew Butler, Fotios Sampaziotis   +16 more
doaj   +1 more source

Mitochondrial neurogastrointestinal encephalopathy: a clinicopathological mimic of Crohn’s disease

BMC Gastroenterology, 2019
Background Mitochondrial neurogastrointestinal encephalopathy (MNGIE), due to mutations in TYMP, often presents with gastrointestinal symptoms. Two sisters, initially managed for Crohn’s disease based upon clinical, imaging and pathological findings ...
Ravi Patel, Lucia Lee Coulter, Joanna Rimmer, Miles Parkes, Patrick Francis Chinnery, Oscar Swift   +5 more
doaj   +1 more source

Efficacy of adeno-associated virus gene therapy in a MNGIE murine model enhanced by chronic exposure to nucleosides

EBioMedicine, 2020
Background: Preclinical studies have shown that gene therapy is a feasible approach to treat mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Ferran Vila-Julià, Raquel Cabrera-Pérez, Yolanda Cámara, Miguel Molina-Berenguer, Silvia Lope-Piedrafita, Michio Hirano, Federico Mingozzi, Javier Torres-Torronteras, Ramon Martí   +8 more
doaj   +1 more source

Preclinical assessment of a gene editing approach for MNGIE [PDF]

, 2020
La MNGIE és una malaltia metabòlica rara causada per mutacions recessives en el gen TYMP, el qual codifica per l'enzim TP. Això causa una acumulació sistèmica de nucleòsids que provoca toxicitat mitocondrial, i normalment acaba sent letal durant les ...
Parés, Marta
core   +2 more sources

Thymidine phosphorylase participates in platelet signaling and promotes thrombosis

, 2014
Rationale: Platelets contain abundant thymidine phosphorylase (TYMP), which is highly expressed in diseases with high risk of thrombosis, such as atherosclerosis and type II diabetes mellitus.
Silverstein, Roy L., McIntyre, Thomas M., Yue, H., Li, Wei, Gigante, Alba, Silverstein, R. L., Yue, Hong, Peréz-Pérez, María-Jesús, Hirano, Michio, McIntyre, T. M.   +9 more
core   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Systemic single‐cell analysis of GPP reveals treatment‐responsive and persistent immune signatures

Clinical and Translational Medicine, Volume 16, Issue 8, August 2026.
Soyoung Jeong, Seungbok Lee, Christine Suh‐Yun Joh, James G. Krueger, Hyun Je Kim, Seong Jin Jo, Jong‐Hee Chae   +6 more
wiley   +1 more source

Collagen and microvascular alterations contribute to neuromuscular degeneration and disease progression in chronic intestinal pseudo‐obstruction

Journal of Internal Medicine, Volume 299, Issue 5, Page 587-603, May 2026.
Abstract Background Chronic intestinal pseudo‐obstruction (CIPO) is a severe gastrointestinal motility disorder that may be idiopathic or associated with systemic disease. In idiopathic cases, the pathophysiological mechanisms remain poorly defined. Although mutations in angiogenic factors have been reported in mitochondrial forms of CIPO, their role ...
Elisa Boschetti, Irene Neri, Leonardo Caporali, Elena Bonora, Carolina Malagelada, Claudio Fiorini, Danara Ormanbekova, Alessandro Berghella, Roberto D'Angelo, Rita Rinaldi, Cristiana Caliceti, Anna Costanzini, Mirella Falconi, Vincenzo Stanghellini, Stefano Ratti, Lucia Manzoli, Valerio Carelli, Roberto De Giorgio   +17 more
wiley   +1 more source

Pathological Roles of Astrocytes in Traumatic Brain Injury

CNS Neuroscience &Therapeutics, Volume 32, Issue 4, April 2026.
TBI induces intrinsic astrocytic changes, including reactive astrogliosis, A1 and A2 polarization, ion channels activation, pathological edema, oxidative stress, and metabolic dysregulation. These injury‐responsive astrocytes regulate neuroinflammation and tissue remodeling through dynamic crosstalk with microglia, macrophages, vascular endothelial ...
Di Wu, Yuxiao Ma, Baofeng Wang, Yongtao Zheng, Jie Ren, Qingfang Sun, Liuguan Bian, Yuhao Sun   +7 more
wiley   +1 more source

Thymidine phosphorylase: A potential new target for treating cardiovascular disease

, 2018
We recently found that thymidine phosphorylase (TYMP), also known as platelet-derived endothelial cell growth factor, plays an important role in platelet activation in vitro and thrombosis in vivo by participating in multiple signaling pathways ...
Hong Yue, Wei Li, Li, Wei, Yue, Hong
core   +1 more source