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• W2145845104 abstract "Iron-sulfur clusters (ISCs) are important prosthetic groups that define the functions of many proteins. Proteins with ISCs (called iron-sulfur or Fe-S proteins) are present in mitochondria, the cytosol, the endoplasmic reticulum and the nucleus. They participate in various biological pathways including oxidative phosphorylation (OXPHOS), the citric acid cycle, iron homeostasis, heme biosynthesis and DNA repair. Here, we report a homozygous mutation in LYRM4 in two patients with combined OXPHOS deficiency. LYRM4 encodes the ISD11 protein, which forms a complex with, and stabilizes, the sulfur donor NFS1. The homozygous mutation (c.203G>T, p.R68L) was identified via massively parallel sequencing of >1000 mitochondrial genes (MitoExome sequencing) in a patient with deficiency of complexes I, II and III in muscle and liver. These three complexes contain ISCs. Sanger sequencing identified the same mutation in his similarly affected cousin, who had a more severe phenotype and died while a neonate. Complex IV was also deficient in her skeletal muscle. Several other Fe-S proteins were also affected in both patients, including the aconitases and ferrochelatase. Mutant ISD11 only partially complemented for an ISD11 deletion in yeast. Our in vitro studies showed that the l-cysteine desulfurase activity of NFS1 was barely present when co-expressed with mutant ISD11. Our findings are consistent with a defect in the early step of ISC assembly affecting a broad variety of Fe-S proteins. The differences in biochemical and clinical features between the two patients may relate to limited availability of cysteine in the newborn period and suggest a potential approach to therapy." @default.
• W2145845104 created "2016-06-24" @default.
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• W2145845104 date "2013-06-28" @default.
• W2145845104 modified "2023-10-14" @default.
• W2145845104 title "Mutations in LYRM4, encoding iron–sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes" @default.
• W2145845104 cites W1965784004 @default.
• W2145845104 cites W1966072209 @default.
• W2145845104 cites W1967185435 @default.
• W2145845104 cites W1971439989 @default.
• W2145845104 cites W1973525888 @default.
• W2145845104 cites W1975180589 @default.
• W2145845104 cites W1978663690 @default.
• W2145845104 cites W1980740976 @default.
• W2145845104 cites W1980911506 @default.
• W2145845104 cites W1986884879 @default.
• W2145845104 cites W1990189970 @default.
• W2145845104 cites W1995152144 @default.
• W2145845104 cites W1995312745 @default.
• W2145845104 cites W2001472904 @default.
• W2145845104 cites W2003418336 @default.
• W2145845104 cites W2006178088 @default.
• W2145845104 cites W2014151573 @default.
• W2145845104 cites W2017398859 @default.
• W2145845104 cites W2021585427 @default.
• W2145845104 cites W2025348458 @default.
• W2145845104 cites W2029446405 @default.
• W2145845104 cites W2031212222 @default.
• W2145845104 cites W2045586767 @default.
• W2145845104 cites W2050448306 @default.
• W2145845104 cites W2050540965 @default.
• W2145845104 cites W2050959145 @default.
• W2145845104 cites W2057404038 @default.
• W2145845104 cites W2059145105 @default.
• W2145845104 cites W2062700139 @default.
• W2145845104 cites W2070586798 @default.
• W2145845104 cites W2072397420 @default.
• W2145845104 cites W2072442925 @default.
• W2145845104 cites W2076658021 @default.
• W2145845104 cites W2078453780 @default.
• W2145845104 cites W2080851578 @default.
• W2145845104 cites W2088723535 @default.
• W2145845104 cites W2089873655 @default.
• W2145845104 cites W2095217602 @default.
• W2145845104 cites W2095232221 @default.
• W2145845104 cites W2095626761 @default.
• W2145845104 cites W2100827676 @default.
• W2145845104 cites W2101465285 @default.
• W2145845104 cites W2101521247 @default.
• W2145845104 cites W2101901686 @default.
• W2145845104 cites W2103140870 @default.
• W2145845104 cites W2104348960 @default.
• W2145845104 cites W2108098152 @default.
• W2145845104 cites W2109212177 @default.
• W2145845104 cites W2110649328 @default.
• W2145845104 cites W2111375801 @default.
• W2145845104 cites W2112132489 @default.
• W2145845104 cites W2113098962 @default.
• W2145845104 cites W2113439382 @default.
• W2145845104 cites W2122732537 @default.
• W2145845104 cites W2123415552 @default.
• W2145845104 cites W2126995384 @default.
• W2145845104 cites W2136321020 @default.
• W2145845104 cites W2141163376 @default.
• W2145845104 cites W2147366327 @default.
• W2145845104 cites W2148522029 @default.
• W2145845104 cites W2149889204 @default.
• W2145845104 cites W2150201082 @default.
• W2145845104 cites W2156612276 @default.
• W2145845104 cites W2158155007 @default.
• W2145845104 cites W2164938489 @default.
• W2145845104 cites W2171556262 @default.
• W2145845104 cites W2171628789 @default.
• W2145845104 cites W2171777347 @default.
• W2145845104 cites W2326598265 @default.
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• W2145845104 doi "https://doi.org/10.1093/hmg/ddt295" @default.
• W2145845104 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3888131" @default.
• W2145845104 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/23814038" @default.
• W2145845104 hasPublicationYear "2013" @default.
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