ライフサイエンスコーパス: MNGIE

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1 MNGIE has clinically homogeneous features but varies in

2 MNGIE is a recognizable clinical syndrome caused by muta

3 MNGIE is caused by loss-of-function mutations in the gen

4 Examination of 12 MNGIE probands revealed homozygous or compound-heterozyg

5 ffy coats were reduced drastically in all 27 MNGIE patients compared with 19 controls.

6 All MNGIE patients had much higher plasma levels of thymidin

7 All MNGIE patients have had severe loss of TP function and p

8 atabolized thymidine in medium; by contrast, MNGIE fibroblasts released thymidine.

9 ial neurogastrointestinal encephalomyopathy (MNGIE) is a fatal, recessive disease caused by mutations

10 ial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder associated wit

11 ial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by loss

12 ial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder characterized

13 ial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder defined clinic

14 ial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive human disease associate

15 ial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive human disease due to mu

16 ial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive multisystem disorder as

17 ial neurogastrointestinal encephalomyopathy (MNGIE) is caused by mutations in the gene encoding thymi

18 ial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is a rare, multisystem disorder characte

19 ial neurogastrointestinal encephalomyopathy (MNGIE).

20 ndrial neurogastrointestinal encephalopathy (MNGIE), the first inherited human disorder of nucleoside

21 nts) who fulfilled our clinical criteria for MNGIE.

22 e liver transplantation as a new therapy for MNGIE.

23 r TP replacement could be useful therapy for MNGIE.

24 in mtDNA of tissues and cultured cells from MNGIE patients.

25 TP activity in leukocytes from MNGIE patients was less than 5 percent of controls, indi

26 In patients who are suspected of having MNGIE, determination of TP activity in buffy coats and t

27 In MNGIE patients, TP activity is very low or absent result

28 In MNGIE, severe impairment of TP enzyme activity leads to

29 ence that thymidine metabolism is altered in MNGIE.

30 A novel aspect of the mtDNA deletions in MNGIE is the presence of microdeletions at the imperfect

31 . that most mitochondrial point mutations in MNGIE patients involve T --> C transitions in sequences

32 ochemical defects and clinical phenotypes in MNGIE and supports the notion that reduction of dThd and

33 Muscle biopsies of MNGIE patients have revealed morphologically abnormal mi

34 Cosegregation of MNGIE with a single chromosomal region in families with

35 of mtDNA deletions in the skeletal muscle of MNGIE patients.

36 Spinazzola et al. showed that MNGIE patients have elevated circulating thymidine level

37 We mapped the MNGIE locus to 22q13.32-qter, distal to D22S1161, with a

38 rt for the first time to our knowledge three MNGIE patients with later onset, milder phenotype, and l

39 reduce thymidine levels may be beneficial to MNGIE patients.

40 severe TP dysfunction, compared with typical MNGIE patients.

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