Gastrointestinal manifestations of mitochondrial disorders: a systematic review
J Finsterer, M Frank - Therapeutic advances in …, 2017 - journals.sagepub.com
Mitochondrial disorders (MIDs) due to respiratory-chain defects or nonrespiratory chain
defects are usually multisystem conditions [mitochondrial multiorgan disorder syndrome …
defects are usually multisystem conditions [mitochondrial multiorgan disorder syndrome …
Mitochondrial neurogastrointestinal encephalomyopathy: into the fourth decade, what we have learned so far
D Pacitti, M Levene, C Garone… - Frontiers in …, 2018 - frontiersin.org
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare metabolic
autosomal recessive disease, caused by mutations in the nuclear gene TYMP which …
autosomal recessive disease, caused by mutations in the nuclear gene TYMP which …
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase
DP Dimmock, Q Zhang, C Dionisi‐Vici… - Human …, 2008 - Wiley Online Library
Published mutations in deoxyguanosine kinase (DGUOK) cause mitochondrial DNA
depletion and a clinical phenotype that consists of neonatal liver failure, nystagmus and …
depletion and a clinical phenotype that consists of neonatal liver failure, nystagmus and …
CoQ10 deficiencies and MNGIE: two treatable mitochondrial disorders
BACKGROUND: Although causative mutations have been identified for numerous
mitochondrial disorders, few disease-modifying treatments are available. Two examples of …
mitochondrial disorders, few disease-modifying treatments are available. Two examples of …
Valproic acid potentiates the anticancer activity of capecitabine in vitro and in vivo in breast cancer models via induction of thymidine phosphorylase expression
M Terranova-Barberio, MS Roca, AI Zotti, A Leone… - …, 2015 - pmc.ncbi.nlm.nih.gov
The prognosis of patients with metastatic breast cancer remains poor, and thus novel
therapeutic approaches are needed. Capecitabine, which is commonly used for metastatic …
therapeutic approaches are needed. Capecitabine, which is commonly used for metastatic …
Loss of thymidine phosphorylase activity disrupts adipocyte differentiation and induces insulin-resistant lipoatrophic diabetes
J Gautheron, L Lima, B Akinci, J Zammouri, M Auclair… - BMC medicine, 2022 - Springer
Background Thymidine phosphorylase (TP), encoded by the TYMP gene, is a cytosolic
enzyme essential for the nucleotide salvage pathway. TP catalyzes the phosphorylation of …
enzyme essential for the nucleotide salvage pathway. TP catalyzes the phosphorylation of …
Novel genetic variants in carboxylesterase 1 predict severe early‐onset capecitabine‐related toxicity
S Hamzic, D Kummer, S Milesi… - Clinical …, 2017 - Wiley Online Library
An important concern with the anticancer drug capecitabine (Cp), an oral prodrug of 5‐
fluorouracil, are dose‐limiting adverse effects, in particular hand‐foot syndrome (HFS) and …
fluorouracil, are dose‐limiting adverse effects, in particular hand‐foot syndrome (HFS) and …
Frequency of mitochondrial defects in patients with chronic intestinal pseudo-obstruction
A Amiot, M Tchikviladzé, F Joly, A Slama, DC Hatem… - Gastroenterology, 2009 - Elsevier
BACKGROUND & AIMS: Chronic intestinal pseudo-obstruction (CIPO) is a rare disorder
caused by intestinal dysmotility and characterized by chronic symptoms suggesting bowel …
caused by intestinal dysmotility and characterized by chronic symptoms suggesting bowel …
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): biochemical features and therapeutic approaches
MC Lara, ML Valentino, J Torres-Torronteras… - Bioscience …, 2007 - portlandpress.com
Over the last 15 years, important research has expanded our knowledge of the clinical,
molecular genetic, and biochemical features of mitochondrial neurogastrointestinal …
molecular genetic, and biochemical features of mitochondrial neurogastrointestinal …
[HTML][HTML] Characteristics of intestinal pseudo-obstruction in patients with mitochondrial diseases
Y Sekino, M Inamori, E Yamada, H Ohkubo… - World journal of …, 2012 - ncbi.nlm.nih.gov
AIM: To reveal the frequency, characteristics and prog-nosis of chronic intestinal pseudo-
obstruction (CIP) in mitochondrial disease patients. METHODS: Between January 2000 and …
obstruction (CIP) in mitochondrial disease patients. METHODS: Between January 2000 and …