Deletion of VDAC1 Hinders Recovery of Mitochondrial and Renal Functions After Acute Kidney Injury

por Nowak, Grazyna, Megyesi, Judit, Craigen, William J.
Publicado 2020

Arrhythmia as a cardiac manifestation in MELAS syndrome()

por Thomas, Tamara, Craigen, William J., Moore, Ryan, Czosek, Richard, Jefferies, John L.
Publicado 2015

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome()

por El-Hattab, Ayman W., Emrick, Lisa T., Williamson, Kaitlin C., Craigen, William J., Scaglia, Fernando
Publicado 2013

Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion

por Donti, Taraka R., Stromberger, Carmen, Ge, Ming, Eldin, Karen W., Craigen, William J., Graham, Brett H.
Publicado 2014

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology

por Craigen, William J, Graham, Brett H, Wong, Lee-Jun, Scaglia, Fernando, Lewis, Richard Alan, Bonnen, Penelope E
Publicado 2013

Mitochondrial Dysfunction Mediated by Poly(ADP-Ribose) Polymerase-1 Activation Contributes to Hippocampal Neuronal Damage Following Status Epilepticus

por Lai, Yi-Chen, Baker, J. Scott, Donti, Taraka, Graham, Brett H., Craigen, William J., Anderson, Anne E.
Publicado 2017

Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

por Sadikovic, Bekim, Wang, Jing, El-Hattab, Ayman, Landsverk, Megan, Douglas, Ganka, Brundage, Ellen K., Craigen, William J., Schmitt, Eric S., Wong, Lee-Jun C.
Publicado 2010

Voltage-dependent Anion Channel-1 (VDAC-1) Contributes to ATP Release and Cell Volume Regulation in Murine Cells

por Okada, Seiko F., O'Neal, Wanda K., Huang, Pingbo, Nicholas, Robert A., Ostrowski, Lawrence E., Craigen, William J., Lazarowski, Eduardo R., Boucher, Richard C.
Publicado 2004

Correction: Sequence Homology at the Breakpoint and Clinical Phenotype of Mitochondrial DNA Deletion Syndromes

por Sadikovic, Bekim, Wang, Jing, El-Hattab, Ayman W., Landsverk, Megan, Douglas, Ganka, Brundage, Ellen K., Craigen, William J., Schmitt, Eric S., Wong, Lee-Jun C.
Publicado 2017

Transforming the clinical outcome in CRIM-negative infantile Pompe disease identified via Newborn Screening: The benefits of early treatment with enzyme replacement therapy and imm...

por Li, Cindy, Desai, Ankit K., Gupta, Punita, Dempsey, Katherine, Bhambhani, Vikas, Hopkin, Robert J., Ficicioglu, Can, Tanpaiboon, Pranoot, Craigen, William J., Rosenberg, Amy S., Kishnani, Priya S.
Publicado 2021

SNP genotyping to screen for a common deletion in CHARGE Syndrome

por Lalani, Seema R, Safiullah, Arsalan M, Fernbach, Susan D, Phillips, Michael, Bacino, Carlos A, Molinari, Laura M, Glass, Nancy L, Towbin, Jeffrey A, Craigen, William J, Belmont, John W
Publicado 2005

2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

por Kennedy, Adam D., Pappan, Kirk L., Donti, Taraka, Delgado, Mauricio R., Shinawi, Marwan, Pearson, Toni S., Lalani, Seema R., Craigen, William J., Sutton, V. Reid, Evans, Anne M., Sun, Qin, Emrick, Lisa T., Elsea, Sarah H.
Publicado 2019

Corrigendum: 2-Pyrrolidinone and Succinimide as Clinical Screening Biomarkers for GABA-Transaminase Deficiency: Anti-seizure Medications Impact Accurate Diagnosis

por Kennedy, Adam D., Pappan, Kirk L., Donti, Taraka, Delgado, Mauricio R., Shinawi, Marwan, Pearson, Toni S., Lalani, Seema R., Craigen, William J., Sutton, V. Reid, Evans, Anne M., Sun, Qin, Emrick, Lisa T., Elsea, Sarah H.
Publicado 2020

Evidences of a Direct Relationship between Cellular Fuel Supply and Ciliogenesis Regulated by Hypoxic VDAC1-ΔC

por Meyenberg Cunha-de Padua, Monique, Fabbri, Lucilla, Dufies, Maeva, Lacas-Gervais, Sandra, Contenti, Julie, Voyton, Charles, Fazio, Sofia, Irondelle, Marie, Mograbi, Baharia, Rouleau, Matthieu, Sadaghianloo, Nirvana, Rovini, Amandine, Brenner, Catherine, Craigen, William J., Bourgeais, Jérôme, Herault, Olivier, Bost, Frédéric, Mazure, Nathalie M.
Publicado 2020

Knockout of Vdac1 activates hypoxia-inducible factor through reactive oxygen species generation and induces tumor growth by promoting metabolic reprogramming and inflammation

por Brahimi-Horn, M. Christiane, Giuliano, Sandy, Saland, Estelle, Lacas-Gervais, Sandra, Sheiko, Tatiana, Pelletier, Joffrey, Bourget, Isabelle, Bost, Frédéric, Féral, Chloé, Boulter, Etienne, Tauc, Michel, Ivan, Mircea, Garmy-Susini, Barbara, Popa, Alexandra, Mari, Bernard, Sarry, Jean-Emmanuel, Craigen, William J., Pouysségur, Jacques, Mazure, Nathalie M.
Publicado 2015

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

por Mills, Philippa B., Footitt, Emma J., Mills, Kevin A., Tuschl, Karin, Aylett, Sarah, Varadkar, Sophia, Hemingway, Cheryl, Marlow, Neil, Rennie, Janet, Baxter, Peter, Dulac, Olivier, Nabbout, Rima, Craigen, William J., Schmitt, Bernhard, Feillet, François, Christensen, Ernst, De Lonlay, Pascale, Pike, Mike G., Hughes, M. Imelda, Struys, Eduard A., Jakobs, Cornelis, Zuberi, Sameer M., Clayton, Peter T.
Publicado 2010

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future

por Milko, Laura V., Funke, Birgit H., Hershberger, Ray E., Azzariti, Danielle R., Lee, Kristy, Riggs, Erin R., Rivera-Munoz, Edgar A., Weaver, Meredith A., Niehaus, Annie, Currey, Erin L., Craigen, William J., Mao, Rong, Offit, Kenneth, Steiner, Robert D., Martin, Christa L., Rehm, Heidi L., Watson, Michael S., Ramos, Erin M., Plon, Sharon E., Berg, Jonathan S.
Publicado 2018

Identification of a new aggressive axis driven by ciliogenesis and absence of VDAC1-ΔC in clear cell Renal Cell Carcinoma patients

por Fabbri, Lucilla, Dufies, Maeva, Lacas-Gervais, Sandra, Gardie, Betty, Gad-Lapiteau, Sophie, Parola, Julien, Nottet, Nicolas, Meyenberg Cunha de Padua, Monique, Contenti, Julie, Borchiellini, Delphine, Ferrero, Jean-Marc, Leclercq, Nathalie Rioux, Ambrosetti, Damien, Mograbi, Baharia, Richard, Stéphane, Viotti, Julien, Chamorey, Emmanuel, Sadaghianloo, Nirvana, Rouleau, Matthieu, Craigen, William J., Mari, Bernard, Clavel, Stéphan, Pagès, Gilles, Pouysségur, Jacques, Bost, Frédéric, Mazure, Nathalie M.
Publicado 2020

Whole-Exome Sequencing in the molecular diagnosis of individuals with congenital anomalies of kidney and urinary tract and identification of a new causative gene

por Bekheirnia, Mir Reza, Bekheirnia, Nasim, Bainbridge, Matthew N., Gu, Shen, Akdemir, Zeynep Hande Coban, Gambin, Tomek, Janzen, Nicolette K., Jhangiani, Shalini N., Muzny, Donna M., Michael, Mini, Brewer, Eileen D., Elenberg, Ewa, Kale, Arundhati S., Riley, Alyssa A., Swartz, Sarah J., Scott, Daryl A., Yang, Yaping, Srivaths, Poyyapakkam R., Wenderfer, Scott E., Bodurtha, Joann, Applegate, Carolyn D., Velinov, Milen, Myers, Angela, Borovik, Lior, Craigen, William J., Hanchard, Neil A., Rosenfeld, Jill A., Lewis, Richard Alan, Gonzales, Edmond T., Gibbs, Richard A., Belmont, John W., Roth, David R., Eng, Christine, Braun, Michael C., Lupski, James R., Lamb, Dolores J.
Publicado 2016

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

por Gabriele, Michele, Vulto-van Silfhout, Anneke T., Germain, Pierre-Luc, Vitriolo, Alessandro, Kumar, Raman, Douglas, Evelyn, Haan, Eric, Kosaki, Kenjiro, Takenouchi, Toshiki, Rauch, Anita, Steindl, Katharina, Frengen, Eirik, Misceo, Doriana, Pedurupillay, Christeen Ramane J., Stromme, Petter, Rosenfeld, Jill A., Shao, Yunru, Craigen, William J., Schaaf, Christian P., Rodriguez-Buritica, David, Farach, Laura, Friedman, Jennifer, Thulin, Perla, McLean, Scott D., Nugent, Kimberly M., Morton, Jenny, Nicholl, Jillian, Andrieux, Joris, Stray-Pedersen, Asbjørg, Chambon, Pascal, Patrier, Sophie, Lynch, Sally A., Kjaergaard, Susanne, Tørring, Pernille M., Brasch-Andersen, Charlotte, Ronan, Anne, van Haeringen, Arie, Anderson, Peter J., Powis, Zöe, Brunner, Han G., Pfundt, Rolph, Schuurs-Hoeijmakers, Janneke H.M., van Bon, Bregje W.M., Lelieveld, Stefan, Gilissen, Christian, Nillesen, Willy M., Vissers, Lisenka E.L.M., Gecz, Jozef, Koolen, David A., Testa, Giuseppe, de Vries, Bert B.A.
Publicado 2017