Results 41 to 50 of about 1,276 (185)

TYMP Variants Result in Late-Onset Mitochondrial Myopathy With Altered Muscle Mitochondrial DNA Homeostasis

Frontiers in Genetics, 2020
Biallelic TYMP variants result in the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a juvenile-onset disorder with progressive course and fatal outcome. Milder late-onset (>40 years) form has been rarely described.
Dario Ronchi, Dario Ronchi, Leonardo Caporali, Giulia Francesca Manenti, Megi Meneri, Susan Mohamed, Andreina Bordoni, Francesca Tagliavini, Manuela Contin, Manuela Contin, Daniela Piga, Monica Sciacco, Cristina Saetti, Cristina Saetti, Valerio Carelli, Valerio Carelli, Giacomo Pietro Comi, Giacomo Pietro Comi   +17 more
doaj   +1 more source

Liver as a source for thymidine phosphorylase replacement in mitochondrial neurogastrointestinal encephalomyopathy.

PLoS ONE, 2014
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive mitochondrial disease associated with mutations in the nuclear TYMP gene.
Elisa Boschetti, Roberto D'Alessandro, Francesca Bianco, Valerio Carelli, Giovanna Cenacchi, Antonio D Pinna, Massimo Del Gaudio, Rita Rinaldi, Vincenzo Stanghellini, Loris Pironi, Kerry Rhoden, Vitaliano Tugnoli, Carlo Casali, Roberto De Giorgio   +13 more
doaj   +1 more source

Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands

Case Reports in Neurological Medicine, 2019
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the gene encoding the Thymidine Phosphorylase (TP).
Catarina Falcão de Campos, Miguel Oliveira Santos, Rafael Roque, Isabel Conceição, Mamede de Carvalho   +4 more
doaj   +1 more source

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the MNGIE International Network

, 2021
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disease caused by TYMP mutations and thymidine phosphorylase (TP) deficiency.
Hirano, M, Accarino, A, Nonino, F, Lodi, R, Rinaldi, R, Dotti, MT, Martí, R, Zaidman, I, Vignatelli, L, Pironi, L, Cenacchi, G, Pugliese, A, Mandel, H, D'Angelo, R, Siniscalchi, A, Filosto, M, Bax, BE, Baldin, E, Cescon, M, Morelli, MC, Carelli, V, De Giorgio, R, Spinazzola, A, Bolletta, A, Levene, M, Tal, G, Torres-Torronteras, J, Gramegna, LL, Pinna, AD, Zoller, H, Zeviani, M, Musumeci, O, Bolletta, R, Giordano, C, Scarpelli, M, D'Alessandro, R, Boschetti, E   +36 more
core  

MNGIE neuropathy: five cases mimicking chronic inflammatory demyelinating polyneuropathy

, 2004
We report five patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) who had demyelinating peripheral neuropathy. The MNGIE neuropathy had clinical and electrodiagnostic features typical of acquired, rather than inherited ...
Sparr, Steven A., Morgenlander, Joel, Hammans, Simon, Myers, Bennett, Hirano, Michio, Bedlack, Richard S., Vu, Tuan   +6 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

An Indian Case Study on Mitochondrial Neurogastrointestinal Encephalomyopathy

Archives of Medicine and Health Sciences
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a unique autosomal recessive disorder characterized by mitochondrial changes resulting from mutations in the TYMP gene, responsible for encoding thymidine phosphorylase. Despite its genetic
Shabana Kareem, Reemy Sara Mathai
doaj   +1 more source

Clinical and molecular characterization of a patient with mitochondrial Neurogastrointestinal Encephalomyopathy

BMC Gastroenterology, 2020
Background Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in TYMP gene, encoding nuclear thymidine phosphorylase (TP).
Parham Habibzadeh, Mohammad Silawi, Hassan Dastsooz, Shima Bahramjahan, Shahrokh Ezzatzadegan Jahromi, Vahid Reza Ostovan, Majid Yavarian, Mohammad Mofatteh, Mohammad Ali Faghihi   +8 more
doaj   +1 more source

Engineering of the Recombinant Expression and PEGylation Efficiency of the Therapeutic Enzyme Human Thymidine Phosphorylase

Frontiers in Bioengineering and Biotechnology, 2021
Human thymidine phosphorylase (HsTP) is an enzyme with important implications in the field of rare metabolic diseases. Defective mutations of HsTP lead to mitochondrial neurogastrointestinal encephalomyopathy (MNGIE), a disease with a high unmet medical ...
Christos S. Karamitros, Catrina M. Somody, Giulia Agnello, Scott Rowlinson   +3 more
doaj   +1 more source

Core Outcome Set for Liver Transplant in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): the COLT-MNGIE Project- Protocol

, 2023
The purpose of this protocol is to report the methodology for the development of a Core Outcome Set (COS) for the mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). A COS represents the minimum that should be measured in a clinical trial for a particular condition. The aim of the COLT-MNGIE project is to develop a COS to be used in research
Rinaldi, Rita, Baldin, Elisa, Cescon, Matteo, Hirano, Michio, Malagelada, Carolina, Martí, Ramon, Massucci, Serena, Mattarozzi, Katia, Morelli, Maria Cristina, Pioli, Silvano, Roubertie, Agathe, Vignatelli, Luca, Nonino, Francesco   +12 more
openaire   +1 more source