MNGIE: From nuclear DNA to mitochondrial DNA

Neuromuscular Disorders

Volumn 11, Issue 1, 2001, Pages 7-10

  Nishino, I ^a   Spinazzola, A ^a   Hirano, M ^a  

^a Och Spine at New York Presbyterian Hospitals   (United States)

Author keywords

Mitochondrial DNA; Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE; Thymidine phosphorylase

Indexed keywords

CELL NUCLEUS DNA; CYTOCHROME C OXIDASE; MITOCHONDRIAL DNA; NUCLEOSIDE; THYMIDINE; THYMIDINE PHOSPHORYLASE; THYMINE;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLOOD LEVEL; CACHEXIA; CHROMOSOME 22Q; CLINICAL FEATURE; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ENCEPHALOMYOPATHY; ENZYME ACTIVITY; ENZYME DEFICIENCY; ETHNIC GROUP; GASTROINTESTINAL DISEASE; GASTROINTESTINAL MOTILITY; GENE LOCUS; GENE MAPPING; GENE MUTATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; INTESTINE INNERVATION; JEW; LEUKOCYTE; LEUKOENCEPHALOPATHY; MNGIE SYNDROME; MUSCLE BIOPSY; NUCLEOTIDE METABOLISM; OPHTHALMOPLEGIA; PERIPHERAL NEUROPATHY; PRIORITY JOURNAL; PTOSIS; SKELETAL MUSCLE; SPECTROPHOTOMETRY; SYMPTOM; WESTERN EUROPE;

EID: 0035144862     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(00)00159-0     Document Type: Review

References (11)

1. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder
2. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder
3. Mitochondrial neurogastrointestinal encephalomyopathy syndrome maps to chromosome 22q13.32-qter
4. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder
5. MNGIE: an autosomal recessive disorder due to thymidine phosphorylase mutations
6. The enzymatic synthesis of nucleosides. I. Thymidine phophorylase in mammalian tissue
7. Thymidine catabolism by normal and leukemic human leukocytes
8. The enzymatic mechanisms for deoxythymidine synthesis in human leukocytes. I. Substrate inhibition by thymine and activation by phosphate or arsenate
9. Thymidine phosphorylase2-deoxy-D-ribose and angiogenesis
10. Selective expansion of mitochondrial nucleoside triphosphate pools in antimetabolite-treated HeLa cells
11. A genetically distinct thymidine kinase in mammalian mitochondria. Exclusive labeling of mitochondrial deoxyribonucleic acid