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2012 1
2013 2
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2023 7
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26 results

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Page 1
LYRM7-associated mitochondrial complex III deficiency with non-cavitating leukoencephalopathy and stroke-like episodes.
Alfattal R, Alfarhan M, Algaith AM, Albash B, Elshafie RM, Alshammari A, Alahmad A, Dashti F, Alsafi R, Alsharhan H. Alfattal R, et al. Am J Med Genet A. 2023 May;191(5):1401-1411. doi: 10.1002/ajmg.a.63143. Epub 2023 Feb 9. Am J Med Genet A. 2023. PMID: 36757047
We present here the seventeenth individual with LYRM7-associated mitochondrial leukoencephalopathy harboring a previously reported rare pathogenic homozygous LYRM 7 variant, c.2T>C, (p.Met1?). ...This report describes new clinical and radiological findings of LYRM7 …
We present here the seventeenth individual with LYRM7-associated mitochondrial leukoencephalopathy harboring a previously reported ra …
LYRM7 mutations cause a multifocal cavitating leukoencephalopathy with distinct MRI appearance.
Dallabona C, Abbink TE, Carrozzo R, Torraco A, Legati A, van Berkel CG, Niceta M, Langella T, Verrigni D, Rizza T, Diodato D, Piemonte F, Lamantea E, Fang M, Zhang J, Martinelli D, Bevivino E, Dionisi-Vici C, Vanderver A, Philip SG, Kurian MA, Verma IC, Bijarnia-Mahay S, Jacinto S, Furtado F, Accorsi P, Ardissone A, Moroni I, Ferrero I, Tartaglia M, Goffrini P, Ghezzi D, van der Knaap MS, Bertini E. Dallabona C, et al. Brain. 2016 Mar;139(Pt 3):782-94. doi: 10.1093/brain/awv392. Epub 2016 Jan 29. Brain. 2016. PMID: 26912632 Free article.
Sanger sequencing performed in the second cohort of patients revealed LYRM7 mutations in three additional patients, who were selected on the basis of the magnetic resonance imaging pattern. ...Mutations in LYRM7 were previously found in a single patient with a sever …
Sanger sequencing performed in the second cohort of patients revealed LYRM7 mutations in three additional patients, who were selected …
LYRM7 - associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study.
Hempel M, Kremer LS, Tsiakas K, Alhaddad B, Haack TB, Löbel U, Feichtinger RG, Sperl W, Prokisch H, Mayr JA, Santer R. Hempel M, et al. Mitochondrion. 2017 Nov;37:55-61. doi: 10.1016/j.mito.2017.07.001. Epub 2017 Jul 8. Mitochondrion. 2017. PMID: 28694194
LYRM7 is involved in the last steps of mitochondrial complex III assembly where it acts as a chaperone for the Rieske iron-sulfur (Fe-S) protein in the mitochondrial matrix. ...Functional analyses revealed a reduced amount of the Rieske Fe-S protein, which was restored aft …
LYRM7 is involved in the last steps of mitochondrial complex III assembly where it acts as a chaperone for the Rieske iron-sulfur (Fe …
Multifocal cavitating leukodystrophy-A distinct image in mitochondrial LYRM7 mutations.
Cherian A, Divya KP, Jose J, Thomas B. Cherian A, et al. Mult Scler Relat Disord. 2021 Jan;47:102615. doi: 10.1016/j.msard.2020.102615. Epub 2020 Nov 5. Mult Scler Relat Disord. 2021. PMID: 33189022
Her clinical exome sequencing revealed a pathogenic homozygous start-loss variation in exon 1 encoding the mitochondrial LYR motif-containing protein 7 (LYRM7 gene) which is an integral part of complex III of the mitochondrial respiratory chain. Our case was unique in the …
Her clinical exome sequencing revealed a pathogenic homozygous start-loss variation in exon 1 encoding the mitochondrial LYR motif-containin …
LYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells.
Sánchez E, Lobo T, Fox JL, Zeviani M, Winge DR, Fernández-Vizarra E. Sánchez E, et al. Biochim Biophys Acta. 2013 Mar;1827(3):285-93. doi: 10.1016/j.bbabio.2012.11.003. Epub 2012 Nov 17. Biochim Biophys Acta. 2013. PMID: 23168492 Free PMC article.
We conclude that human LYRM7, which we propose to be renamed MZM1L (MZM1-like), works as a human Rieske Fe-S protein (UQCRFS1) chaperone, binding to this subunit within the mitochondrial matrix and stabilizing it prior to its translocation and insertion into the late CIII …
We conclude that human LYRM7, which we propose to be renamed MZM1L (MZM1-like), works as a human Rieske Fe-S protein (UQCRFS1) chaper …
TNF-alpha induced NF-kappaB mediated LYRM7 expression modulates the tumor growth and metastatic ability in breast cancer.
Shinde A, Chandak N, Singh J, Roy M, Mane M, Tang X, Vasiyani H, Currim F, Gohel D, Shukla S, Goyani S, Saranga MV, Brindley DN, Singh R. Shinde A, et al. Free Radic Biol Med. 2024 Feb 1;211:158-170. doi: 10.1016/j.freeradbiomed.2023.12.018. Epub 2023 Dec 15. Free Radic Biol Med. 2024. PMID: 38104742
RELA, one of the major subunits in regulation of the NF-kappaB pathway is positively correlated with high level of TNF-alpha in breast cancer patients. TNF-alpha induced NF-kappaB regulates the expression of LYRM7, an assembly factor for mitochondrial complex III. Downregu …
RELA, one of the major subunits in regulation of the NF-kappaB pathway is positively correlated with high level of TNF-alpha in breast cance …
A homozygous mutation in LYRM7/MZM1L associated with early onset encephalopathy, lactic acidosis, and severe reduction of mitochondrial complex III activity.
Invernizzi F, Tigano M, Dallabona C, Donnini C, Ferrero I, Cremonte M, Ghezzi D, Lamperti C, Zeviani M. Invernizzi F, et al. Hum Mutat. 2013 Dec;34(12):1619-22. doi: 10.1002/humu.22441. Epub 2013 Sep 23. Hum Mutat. 2013. PMID: 24014394 Free PMC article.
Mutations in nuclear genes associated with defective complex III (cIII) of the mitochondrial respiratory chain are rare, having been found in only two cIII assembly factors and, as private changes in single families, three cIII structural subunits. Recently, human LYRM7/MZ …
Mutations in nuclear genes associated with defective complex III (cIII) of the mitochondrial respiratory chain are rare, having been found i …
Eukaryotic LYR Proteins Interact with Mitochondrial Protein Complexes.
Angerer H. Angerer H. Biology (Basel). 2015 Feb 12;4(1):133-50. doi: 10.3390/biology4010133. Biology (Basel). 2015. PMID: 25686363 Free PMC article. Review.
Many LYR proteins function as extra subunits (LYRM3 and LYRM6) or novel assembly factors (LYRM7, LYRM8, ACN9 and FMC1) of the oxidative phosphorylation (OXPHOS) core complexes. ...
Many LYR proteins function as extra subunits (LYRM3 and LYRM6) or novel assembly factors (LYRM7, LYRM8, ACN9 and FMC1) of the oxidati …
26 results