Substrate Specificity Overlap and Interaction between Adrenoleukodystrophy Protein (ALDP/ABCD1) and Adrenoleukodystrophy-related Protein (ALDRP/ABCD2)

Por Genin, Emmanuelle C., Geillon, Flore, Gondcaille, Catherine, Athias, Anne, Gambert, Philippe, Trompier, Doriane, Savary, Stéphane
Publicado em 2011

CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

Por Genin, Emmanuelle C, Plutino, Morgane, Bannwarth, Sylvie, Villa, Elodie, Cisneros‐Barroso, Eugenia, Roy, Madhuparna, Ortega‐Vila, Bernardo, Fragaki, Konstantina, Lespinasse, Françoise, Pinero‐Martos, Estefania, Augé, Gaëlle, Moore, David, Burté, Florence, Lacas‐Gervais, Sandra, Kageyama, Yusuke, Itoh, Kie, Yu‐Wai‐Man, Patrick, Sesaki, Hiromi, Ricci, Jean‐Ehrland, Vives‐Bauza, Cristofol, Paquis‐Flucklinger, Véronique
Publicado no EMBO Mol Med (2015)

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

Por Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David G., Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique
Publicado em 2014

Reply: Two novel mutations in conserved codons indicate that CHCHD10 is a gene associated with motor neuron disease

Por Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique
Publicado no Brain (2014)

Reply: Are CHCHD10 mutations indeed associated with familial amyotrophic lateral sclerosis?

Por Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique
Publicado no Brain (2014)

Reply: CHCHD10 mutations in Italian patients with sporadic amyotrophic lateral sclerosis

Por Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique
Publicado no Brain (2015)

Reply: A distinct clinical phenotype in a German kindred with motor neuron disease carrying a CHCHD10 mutation

Por Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique
Publicado no Brain (2015)

Reply: Mutations in the CHCHD10 gene are a common cause of familial amyotrophic lateral sclerosis

Por Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique
Publicado no Brain (2014)

Reply: High prevalence of CHCHD10 mutations in patients with frontotemporal dementia from China

Por Bannwarth, Sylvie, Ait-El-Mkadem, Samira, Chaussenot, Annabelle, Genin, Emmanuelle C., Lacas-Gervais, Sandra, Fragaki, Konstantina, Berg-Alonso, Laetitia, Kageyama, Yusuke, Serre, Valérie, Moore, David, Verschueren, Annie, Rouzier, Cécile, Le Ber, Isabelle, Augé, Gaëlle, Cochaud, Charlotte, Lespinasse, Françoise, N’Guyen, Karine, de Septenville, Anne, Brice, Alexis, Yu-Wai-Man, Patrick, Sesaki, Hiromi, Pouget, Jean, Paquis-Flucklinger, Véronique
Publicado no Brain (2016)

Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy

Por Ait-El-Mkadem, Samira, Dayem-Quere, Manal, Gusic, Mirjana, Chaussenot, Annabelle, Bannwarth, Sylvie, François, Bérengère, Genin, Emmanuelle C., Fragaki, Konstantina, Volker-Touw, Catharina L.M., Vasnier, Christelle, Serre, Valérie, van Gassen, Koen L.I., Lespinasse, Françoise, Richter, Susan, Eisenhofer, Graeme, Rouzier, Cécile, Mochel, Fanny, De Saint-Martin, Anne, Abi Warde, Marie-Thérèse, de Sain-van der Velde, Monique G.M., Jans, Judith J.M., Amiel, Jeanne, Avsec, Ziga, Mertes, Christian, Haack, Tobias B., Strom, Tim, Meitinger, Thomas, Bonnen, Penelope E., Taylor, Robert W., Gagneur, Julien, van Hasselt, Peter M., Rötig, Agnès, Delahodde, Agnès, Prokisch, Holger, Fuchs, Sabine A., Paquis-Flucklinger, Véronique
Publicado no Am J Hum Genet (2017)