Genetic compensation in a stable slc25a46 mutant zebrafish: A case for using F0 CRISPR mutagenesis to study phenotypes caused by inherited disease
Buglo, Elena, Sarmiento, Evan, Martuscelli, Nicole Belliard, Sant, David W, Danzi, Matt C, Abrams, Alexander J, Dallman, Julia E, Züchner, Stephan
Published in PloS one (24.03.2020)
Published in PloS one (24.03.2020)
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Cryptic Amyloidogenic Elements in the 3′ UTRs of Neurofilament Genes Trigger Axonal Neuropathy
Rebelo, Adriana P., Abrams, Alexander J., Cottenie, Ellen, Horga, Alejandro, Gonzalez, Michael, Bis, Dana M., Sanchez-Mejias, Avencia, Pinto, Milena, Buglo, Elena, Markel, Kasey, Prince, Jeffrey, Laura, Matilde, Houlden, Henry, Blake, Julian, Woodward, Cathy, Sweeney, Mary G., Holton, Janice L., Hanna, Michael, Dallman, Julia E., Auer-Grumbach, Michaela, Reilly, Mary M., Zuchner, Stephan
Published in American journal of human genetics (07.04.2016)
Published in American journal of human genetics (07.04.2016)
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Journal Article
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1
Cukier, Holly N, Lee, Joycelyn M, Ma, Deqiong, Young, Juan I, Mayo, Vera, Butler, Brittany L, Ramsook, Sandhya S, Rantus, Joseph A, Abrams, Alexander J, Whitehead, Patrice L, Wright, Harry H, Abramson, Ruth K, Haines, Jonathan L, Cuccaro, Michael L, Pericak-Vance, Margaret A, Gilbert, John R
Published in Autism research (01.12.2012)
Published in Autism research (01.12.2012)
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The stress-responsive gene GDPGP1/mcp-1 regulates neuronal glycogen metabolism and survival
Schulz, Alexander, Sekine, Yuichi, Oyeyemi, Motunrayo J, Abrams, Alexander J, Basavaraju, Manasa, Han, Sung Min, Groth, Marco, Morrison, Helen, Strittmatter, Stephen M, Hammarlund, Marc
Published in The Journal of cell biology (03.02.2020)
Published in The Journal of cell biology (03.02.2020)
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Journal Article
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2
FOLEY, A. Reghan, MENEZES, Manoj P, HUGHES, Imelda, MCCULLAGH, B. Gary, JUNGBLUTH, Heinz, LIM, Ming J, LIN, Jean-Pierre, MEGARBANE, Andre, ANDONI URTIZBEREA, J, SHAH, Ayaz H, ANTONY, Jayne, WEBSTER, Richard, PANDRAUD, Amelie, BROOMFIELD, Alexander, NG, Joanne, MATHEW, Ann A, O'BYRNE, James J, FORMAN, Eva, SCOTO, Mariacristina, PRASAD, Manish, O'BRIEN, Katherine, OLPIN, Simon, OPPENHEIM, Marcus, GONZALEZ, Michael A, HARGREAVES, Iain, LAND, John M, WANG, Min X, CARPENTER, Kevin, HORVATH, Rita, STRAUB, Volker, LEK, Monkol, GOLD, Wendy, FARRELL, Michael O, BRANDNER, Sebastian, AL-ODAIB, Ahmad, PHADKE, Rahul, MATSUBARA, Kazuo, McCGARVEY, Michael L, SCHERER, Steven S, BAXTER, Peter S, KING, Mary D, CLAYTON, Peter, RAHMAN, Shamima, REILLY, Mary M, OUVRIER, Robert A, ABRAMS, Alexander J, CHRISTODOULOU, John, ZÜCHNER, Stephan, MUNTONI, Francesco, HOULDEN, Henry, SUGANO, Kumiko, YONEZAWA, Atsushi, MANZUR, Adnan Y, BURNS, Joshua
Published in Brain (London, England : 1878) (01.01.2014)
Published in Brain (London, England : 1878) (01.01.2014)
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Journal Article
Insights into the genotype‐phenotype correlation and molecular function of SLC25A46
Abrams, Alexander J., Fontanesi, Flavia, Tan, Natalie B. L., Buglo, Elena, Campeanu, Ion J., Rebelo, Adriana P., Kornberg, Andrew J., Phelan, Dean G., Stark, Zornitza, Zuchner, Stephan
Published in Human mutation (01.12.2018)
Published in Human mutation (01.12.2018)
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Journal Article
Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder
Abrams, Alexander J, Hufnagel, Robert B, Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A, Campeanu, Ion J, Griffin, Laurie B, Groenewald, Saskia, Strickland, Alleene V, Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M, Sund, Kristen L, Wang, Xinjian, Krueger, Laura A, Peng, Yanyan, Prada, Carlos E, Prows, Cynthia A, Schorry, Elizabeth K, Antonellis, Anthony, Zimmerman, Holly H, Abdul-Rahman, Omar A, Yang, Yaping, Downes, Susan M, Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Németh, Andrea H, Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E
Published in Nature genetics (01.08.2015)
Published in Nature genetics (01.08.2015)
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Journal Article
Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder
Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.
Published in Nature genetics (13.07.2015)
Published in Nature genetics (13.07.2015)
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Journal Article
An Ugo1-like protein is associated with optic atrophy ‘plus’ disorders
Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Caporali, Leonardo, La Morgia, Chiara, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdulrahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Julia, Dallman, Zuchner, Stephan
Published in Mitochondrion (01.09.2015)
Published in Mitochondrion (01.09.2015)
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