Results 91 to 100 of about 1,276 (185)

Mitochondrial deoxynucleotide pools in quiescent fibroblasts: a possible model for mitochondrial neurogastrointestinal encephalomyopathy (MNGIE). [PDF]

, 2005
Mitochondrial (mt) DNA depletion syndromes can arise from genetic deficiencies for enzymes of dNTP metabolism, operating either inside or outside mitochondria. MNGIE is caused by the deficiency of cytosolic thymidine phosphorylase that degrades thymidine
BIANCHI, VERA, FABRIS, SONIA, CROCCO L, PONTARIN, GIOVANNA, REICHARD P, FERRARO, PAOLA   +5 more
core  

Heteroplasmic mutation in the anticodon-stem of mitochondrial tRNA(Val) causing MNGIE-like gastrointestinal dysmotility and cachexia

While mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is typically associated with mutations in the nuclear gene encoding for thymidine phosphorylase (ECGF1, TYMP), a similar clinical phenotype was described in patients carrying mutations ...
Holinski-Feder E, Trips T, Lochmuller H, Czermin B, Schneiderat P, Abicht A, Horvath R, Klopstock T, Bender A   +8 more
core   +5 more sources

Skeletal muscle pathology in MNGIE patients: blood vessels depletion

, 2014
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized by ptosis and progressive external ophthalmoplegia, peripheral neuropathy, severe gastrointestinal dysmotility, cachexia ...
CENACCHI, GIOVANNA, BOSCHETTI, ELISA, PAPA, VALENTINA, CARELLI, VALERIO, RINALDI, RITA, SALAROLI, ROBERTA, DE GIORGIO, ROBERTO   +6 more
core   +1 more source

Mitochondrial diseases: advances and issues

The Application of Clinical Genetics, 2017
Mauro Scarpelli,1 Alice Todeschini,2 Irene Volonghi,2 Alessandro Padovani,2 Massimiliano Filosto2 1Department of Neuroscience, Unit of Neurology, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy; 2Center for Neuromuscular Diseases and ...
Scarpelli M, Todeschini A, Volonghi I, Padovani A, Filosto M   +4 more
doaj  

P07 | DISRUPTED GUT-VASCULAR BARRIER AND INFLAMMATORY REMODELING IN MNGIE: A SPATIAL TRANSCRIPTOMIC AND HISTOLOGICAL STUDY

European Journal of Histochemistry
Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare genetic disorder caused by loss-of-function mutations in the enzyme thymidine phosphorylase (TP).
doaj   +1 more source

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder

, 1994
We studied the clinical, biochemical, and genetic features of eight patients with the autosomal recessive mitochondrial syndrome mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).
Silvestri G.
core   +1 more source

A rare cause of anejaculation: mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome: case report

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is an extremely rare multisystem disorder with autosomal recessive inheritance and impairs mitochondrial DNA replication, which causes myopathy and neurodegeneration.
ÜNAL, SELMAN
core   +1 more source

P55 | ENDOTHELIAL THYMIDINE PHOSPHORYLASE DEFICIENCY TRIGGERS MORPHO-FUNCTIONAL DEGE-NERATION OF ENTERIC NEURONS AND REDUCES INTESTINAL STEM CELL PROLIFERATION

European Journal of Histochemistry
The enteric nervous system (ENS) operates within a complex neurovascular niche where endothelial thymidine phosphorylase (TP) regulates vascular integrity.
doaj   +1 more source

Liver tissue: a proof-of-concept study for OLT in MNGIE patients

, 2014
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an extremely rare autosomal recessive mitochondrial disease due to mutations to the nuclear TYMP gene.
CENACCHI, GIOVANNA, PINNA, ANTONIO DANIELE, PIRONI, LORIS, CARELLI, VALERIO, RINALDI, RITA, STANGHELLINI, VINCENZO, TUGNOLI, VITALIANO, TONON, CATERINA, DE GIORGIO, ROBERTO, RHODEN, KERRY JANE, BOSCHETTI, ELISA, LODI, RAFFAELE, DEL GAUDIO, MASSIMO, C. Casali, D'ALESSANDRO, ROBERTO, BIANCO, FRANCESCA   +15 more
core   +1 more source

Non-invasive biomarkers for diagnosis and monitoring of primary mitochondrial diseases. [PDF]

J Neurol
Arena IG, Saravanabavan S, Horvath R, van den Ameele J.   +3 more
europepmc   +1 more source