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Alahmad 2020 EMBO Mol Med - Revision history
2024-03-29T13:01:19Z
Revision history for this page on the wiki
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Plangger Mario at 14:19, 2 December 2021
2021-12-02T14:19:07Z
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<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 14:19, 2 December 2021</td>
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<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>|title=Alahmad A, Nasca A, Heidler J, Thompson K, Oláhová M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardissone A, Alston CL, McFarland R, Wittig I, Ghezzi D, Taylor RW (2020) Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. EMBO Mol Med <del style="font-weight: bold; text-decoration: none;">[Epub ahead of print]</del>.</div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>|title=Alahmad A, Nasca A, Heidler J, Thompson K, Oláhová M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardissone A, Alston CL, McFarland R, Wittig I, Ghezzi D, Taylor RW (2020) Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. EMBO Mol Med <ins style="font-weight: bold; text-decoration: none;">12:e12619</ins>.</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|info=[https://www.ncbi.nlm.nih.gov/pubmed/32969598 PMID: 32969598 Open Access]</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|info=[https://www.ncbi.nlm.nih.gov/pubmed/32969598 PMID: 32969598 Open Access]</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|authors=Alahmad Ahmad, Nasca Alessia, Heidler Juliana, Thompson Kyle, Olahova Monika, Legati Andrea, Lamantea Eleonora, Meisterknecht Jana, Spagnolo Manuela, He Langping, Alameer Seham, Hakami Fahad, Almehdar Abeer, Ardissone Anna, Alston Charlotte L, McFarland Robert, Wittig Ilka, Ghezzi Daniele, Taylor Robert W</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|authors=Alahmad Ahmad, Nasca Alessia, Heidler Juliana, Thompson Kyle, Olahova Monika, Legati Andrea, Lamantea Eleonora, Meisterknecht Jana, Spagnolo Manuela, He Langping, Alameer Seham, Hakami Fahad, Almehdar Abeer, Ardissone Anna, Alston Charlotte L, McFarland Robert, Wittig Ilka, Ghezzi Daniele, Taylor Robert W</div></td></tr>
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Plangger Mario
https://wiki.oroboros.at/index.php?title=Alahmad_2020_EMBO_Mol_Med&diff=207805&oldid=prev
Plangger Mario at 18:27, 2 October 2020
2020-10-02T18:27:26Z
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<td colspan="2" style="background-color: #fff; color: #202122; text-align: center;">Revision as of 18:27, 2 October 2020</td>
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<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|info=[https://www.ncbi.nlm.nih.gov/pubmed/32969598 PMID: 32969598 Open Access]</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|info=[https://www.ncbi.nlm.nih.gov/pubmed/32969598 PMID: 32969598 Open Access]</div></td></tr>
<tr><td class="diff-marker" data-marker="−"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #ffe49c; vertical-align: top; white-space: pre-wrap;"><div>|authors=Alahmad <del style="font-weight: bold; text-decoration: none;">A</del>, Nasca <del style="font-weight: bold; text-decoration: none;">A</del>, Heidler <del style="font-weight: bold; text-decoration: none;">J</del>, Thompson <del style="font-weight: bold; text-decoration: none;">K</del>, <del style="font-weight: bold; text-decoration: none;">Oláhová M</del>, Legati <del style="font-weight: bold; text-decoration: none;">A</del>, Lamantea <del style="font-weight: bold; text-decoration: none;">E</del>, Meisterknecht <del style="font-weight: bold; text-decoration: none;">J</del>, Spagnolo <del style="font-weight: bold; text-decoration: none;">M</del>, He <del style="font-weight: bold; text-decoration: none;">L</del>, Alameer <del style="font-weight: bold; text-decoration: none;">S</del>, Hakami <del style="font-weight: bold; text-decoration: none;">F</del>, Almehdar <del style="font-weight: bold; text-decoration: none;">A</del>, Ardissone <del style="font-weight: bold; text-decoration: none;">A</del>, Alston <del style="font-weight: bold; text-decoration: none;">CL</del>, McFarland <del style="font-weight: bold; text-decoration: none;">R</del>, Wittig <del style="font-weight: bold; text-decoration: none;">I</del>, Ghezzi <del style="font-weight: bold; text-decoration: none;">D</del>, Taylor <del style="font-weight: bold; text-decoration: none;">RW</del></div></td><td class="diff-marker" data-marker="+"></td><td style="color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #a3d3ff; vertical-align: top; white-space: pre-wrap;"><div>|authors=Alahmad <ins style="font-weight: bold; text-decoration: none;">Ahmad</ins>, Nasca <ins style="font-weight: bold; text-decoration: none;">Alessia</ins>, Heidler <ins style="font-weight: bold; text-decoration: none;">Juliana</ins>, Thompson <ins style="font-weight: bold; text-decoration: none;">Kyle</ins>, <ins style="font-weight: bold; text-decoration: none;">Olahova Monika</ins>, Legati <ins style="font-weight: bold; text-decoration: none;">Andrea</ins>, Lamantea <ins style="font-weight: bold; text-decoration: none;">Eleonora</ins>, Meisterknecht <ins style="font-weight: bold; text-decoration: none;">Jana</ins>, Spagnolo <ins style="font-weight: bold; text-decoration: none;">Manuela</ins>, He <ins style="font-weight: bold; text-decoration: none;">Langping</ins>, Alameer <ins style="font-weight: bold; text-decoration: none;">Seham</ins>, Hakami <ins style="font-weight: bold; text-decoration: none;">Fahad</ins>, Almehdar <ins style="font-weight: bold; text-decoration: none;">Abeer</ins>, Ardissone <ins style="font-weight: bold; text-decoration: none;">Anna</ins>, Alston <ins style="font-weight: bold; text-decoration: none;">Charlotte L</ins>, McFarland <ins style="font-weight: bold; text-decoration: none;">Robert</ins>, Wittig <ins style="font-weight: bold; text-decoration: none;">Ilka</ins>, Ghezzi <ins style="font-weight: bold; text-decoration: none;">Daniele</ins>, Taylor <ins style="font-weight: bold; text-decoration: none;">Robert W</ins></div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|year=2020</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|year=2020</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|journal=EMBO Mol Med</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|journal=EMBO Mol Med</div></td></tr>
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Plangger Mario
https://wiki.oroboros.at/index.php?title=Alahmad_2020_EMBO_Mol_Med&diff=207804&oldid=prev
Plangger Mario at 17:58, 2 October 2020
2020-10-02T17:58:19Z
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<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|editor=[[Plangger M]]</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|editor=[[Plangger M]]</div></td></tr>
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<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Labeling</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>{{Labeling</div></td></tr>
<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|area=Respiration</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|area=Respiration</div></td></tr>
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<tr><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|additional=2020-10</div></td><td class="diff-marker"></td><td style="background-color: #f8f9fa; color: #202122; font-size: 88%; border-style: solid; border-width: 1px 1px 1px 4px; border-radius: 0.33em; border-color: #eaecf0; vertical-align: top; white-space: pre-wrap;"><div>|additional=2020-10</div></td></tr>
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Plangger Mario
https://wiki.oroboros.at/index.php?title=Alahmad_2020_EMBO_Mol_Med&diff=207803&oldid=prev
Plangger Mario: Created page with "{{Publication |title=Alahmad A, Nasca A, Heidler J, Thompson K, Oláhová M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardisson..."
2020-10-02T17:49:24Z
<p>Created page with "{{Publication |title=Alahmad A, Nasca A, Heidler J, Thompson K, Oláhová M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardisson..."</p>
<p><b>New page</b></p><div>{{Publication<br />
|title=Alahmad A, Nasca A, Heidler J, Thompson K, Oláhová M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardissone A, Alston CL, McFarland R, Wittig I, Ghezzi D, Taylor RW (2020) Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I. EMBO Mol Med [Epub ahead of print].<br />
|info=[https://www.ncbi.nlm.nih.gov/pubmed/32969598 PMID: 32969598 Open Access]<br />
|authors=Alahmad A, Nasca A, Heidler J, Thompson K, Oláhová M, Legati A, Lamantea E, Meisterknecht J, Spagnolo M, He L, Alameer S, Hakami F, Almehdar A, Ardissone A, Alston CL, McFarland R, Wittig I, Ghezzi D, Taylor RW<br />
|year=2020<br />
|journal=EMBO Mol Med<br />
|abstract=Leigh syndrome is a progressive neurodegenerative disorder, most commonly observed in paediatric mitochondrial disease, and is often associated with pathogenic variants in complex I structural subunits or assembly factors resulting in isolated respiratory chain complex I deficiency. Clinical heterogeneity has been reported, but key diagnostic findings are developmental regression, elevated lactate and characteristic neuroimaging abnormalities. Here, we describe three affected children from two unrelated families who presented with Leigh syndrome due to homozygous variants (c.346_*7del and c.173A>T p.His58Leu) in NDUFC2, encoding a complex I subunit. Biochemical and functional investigation of subjects' fibroblasts confirmed a severe defect in complex I activity, subunit expression and assembly. Lentiviral transduction of subjects' fibroblasts with wild-type NDUFC2 cDNA increased complex I assembly supporting the association of the identified NDUFC2 variants with mitochondrial pathology. Complexome profiling confirmed a loss of NDUFC2 and defective complex I assembly, revealing aberrant assembly intermediates suggestive of stalled biogenesis of the complex I holoenzyme and indicating a crucial role for NDUFC2 in the assembly of the membrane arm of complex I, particularly the ND2 module.<br />
|keywords=Leigh syndrome, NDUFC2, OXPHOS, Complex I, Mitochondrial disease<br />
|editor=[[Plangger M]]<br />
}}<br />
{{Labeling<br />
|area=Respiration<br />
|instruments=Oxygraph-2k<br />
|additional=2020-10<br />
}}</div>
Plangger Mario