Results 1 to 10 of about 1,276 (185)

Association of a Homozygous TYMP c.131G>C Variant With MNGIE in a Chinese Pedigree: Insights From Genetic Analysis and Computational Modeling [PDF]

Molecular Genetics & Genomic Medicine
Background Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in TYMP, which disrupt thymidine metabolism.
Ling Li, Xiu Chen, Hua Li, Kai Guo, Ting Zhang, Mingyi Ma, Songhua Zhao   +6 more
doaj   +3 more sources

Brain magnetic resonance imaging findings in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE): A case-based review [PDF]

Radiology Case Reports
Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder, manifesting with gastrointestinal dysmotility, cachexia, ptosis and peripheral neuropathy. Diffuse leukoencephalopathy in brain MRI is a hallmark of MNGIE.
Maria Veatriki Christodoulou, MD, MSc, Nikoletta Anagnostou, MD, MSc, Anastasia K. Zikou, MD, PhD   +2 more
doaj   +3 more sources

Meningoencephalitis in a novel mutation in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy) ending a familial diagnostic odyssey: A case series report [PDF]

Journal of Central Nervous System Disease
MNGIE (Mitochondrial Neurogastrointestinal Encephalomyopathy) is an ultra-rare autosomal recessive disorder that leads to mutations in the nuclear genes encoding thymidine phosphorylase.
Noor Redha, Zahra Al-Sahlawi, Hasan Hasan, Sara Ghareeb, Hani Humaidan   +4 more
doaj   +2 more sources

Mitochondrial neurogastrointestinal encephalomyopathy in china: a novel TYMP variant and comprehensive clinical-genetic insights [PDF]

Orphanet Journal of Rare Diseases
Background Mitochondrial neurogastrointestinal encephalopathy (MNGIE) is a rare autosomal recessive disorder caused by variants in the TYMP gene, which encodes thymidine phosphorylase (TP).
Xuebi Xu, Junhui Xia, Fei Xu, Mingshan Wang, Lihong Yang, Xiaoli Chen   +5 more
doaj   +2 more sources

Lysosomal dysfunction and overload of nucleosides in thymidine phosphorylase deficiency of MNGIE [PDF]

Journal of Translational Medicine
Inherited deficiency of thymidine phosphorylase (TP), encoded by TYMP, leads to a rare disease with multiple mitochondrial DNA (mtDNA) abnormalities, mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Jixiang Du, Fuchen Liu, Xihan Liu, Dandan Zhao, Dongdong Wang, Hongsheng Sun, Chuanzhu Yan, Yuying Zhao   +7 more
doaj   +2 more sources

DCTPP1 orchestrates dCTP pool dynamics and mtDNA stability in quiescent cells [PDF]

Cell Death and Disease
Defects in nucleotide metabolism and imbalances in deoxynucleotide triphosphate (dNTP) pools are associated with several human diseases, including cancer and mitochondrial disorders.
Belén Fernández, Guiomar Pérez-Moreno, Blanca Martínez-Arribas, Antonio E. Vidal, Luis Miguel Ruiz-Pérez, Dolores González-Pacanowska   +5 more
doaj   +2 more sources

Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE

Molecular Therapy - Methods and Clinical Development, 2018
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by thymidine phosphorylase (TP) deficiency resulting in systemic accumulation of thymidine (d-Thd) and deoxyuridine (d-Urd) and characterized by early-
Marianna Bugiani, Rana Yadak, Steffi Goffart   +2 more
exaly   +3 more sources

Case report: A patient with mitochondrial neurogastrointestinal encephalomyopathy and chronic intestinal failure

Frontiers in Nutrition, 2022
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare disorder commonly diagnosed in later disease stages when it prominently manifests as malnutrition. We report on a female patient diagnosed with MNGIE at the age of 36.
Ana Barisic, Ana Barisic, Dina Ljubas Kelecic, Darija Vranesic Bender, Irena Karas, Marko Brinar, Marko Brinar, Vladimir Miletic, Zeljko Krznaric, Zeljko Krznaric, Zeljko Krznaric   +10 more
doaj   +1 more source

Rare pathogenic mutation in the thymidine phosphorylase gene (TYMP) causing mitochondrial neurogastrointestinal encephalomyelopathy

BMJ Neurology Open, 2022
Background Mitochondrial neurogastrointestinal encephalopathy (MNGIE) disease is a rare multisystem disorder that mainly affects the digestive and nervous systems. Key features of the disease include cachexia, ptosis, external ophthalmoplegia, peripheral
Syed Asfand Yar Shah, Hassan Abdullah Shakeel, Wajih Ul Hassan   +2 more
doaj   +1 more source

Endocarditis in Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) Syndrome: The First in the Literature [PDF]

Journal of Clinical and Diagnostic Research, 2014
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndromes is a rarely seen multisystem disorder with autosomal recessive inheritance due to thymidine phosphorylase gene mutation.
Mustafa Yolcu, Canan Yolcu, Zekeriya Kaya, Ender Ozgun Cakmak, Yusuf Sezen   +4 more
doaj   +1 more source