Correction to: Molecular basis of Leigh syndrome: a current look
نویسندگان
چکیده
منابع مشابه
Why does Leigh syndrome respond to immunotherapy?
With interest we read the article by Chuquilin et al. about a 20yo femalewith Leigh syndromedue to them.9176T N Cmutation in the ATP6 gene who responded favourably to plasmapheresis and immunoglobulins [1]. We have the following comments and concerns. Themain ambiguity of this report is thediagnosis. Except for the current case, Leigh syndrome has not been reported to respond to immunosuppressi...
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glucose-6-phosphate dehydrogenase is an essential enzyme to cell growth. its deficiency of enzyme plays an important role in senescence and death signaling. also, it is actually the most common clinically important enzyme defect, not only in hematology, but also among all human known diseases. clinical consequences of enzyme deficiency are: neonatal hyperbilirubinemia, acute hemolytic anemia, a...
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MEDICAL SCIENCES Correction for “Hypoxia treatment reverses neurodegenerative disease in a mouse model of Leigh syndrome,” by Michele Ferrari, Isha H. Jain, Olga Goldberger, Emanuele Rezoagli, Robrecht Thoonen, Kai-Hung Chen, David E. Sosnovik, Marielle Scherrer-Crosbie, Vamsi K. Mootha, and Warren M. Zapol, which appeared in issue 21, May 23, 2017, of Proc Natl Acad Sci USA (114:E4241–E4250; f...
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Leigh Syndrome (LS) is the most common early-onset, progressive mitochondrial encephalopathy usually leading to early death. The single most prevalent cause of LS is occurrence of mutations in the SURF1 gene, and LS(Surf1) patients show a ubiquitous and specific decrease in the activity of mitochondrial respiratory chain complex IV (cytochrome c oxidase, COX). SURF1 encodes an inner membrane mi...
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Background: Sexual reproduction affords the stands for conserving genetic characteristics and sequentially, genetic inconsistency may influence the capability to imitate. Materials and Methods: Research was conducted by subject in PubMed and other databases. Results: A significant number of genotypes have been related with infertility phenotypes and evaluation of precise genes in humans and mod...
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ژورنال
عنوان ژورنال: Orphanet Journal of Rare Diseases
سال: 2020
ISSN: 1750-1172
DOI: 10.1186/s13023-020-1351-7