Kelch proteins: emerging roles in skeletal muscle development and diseases

Por Gupta, Vandana A, Beggs, Alan H
Publicado em 2014

Bridging integrator 1 (Bin1) deficiency in zebrafish results in centronuclear myopathy

Por Smith, Laura L., Gupta, Vandana A., Beggs, Alan H.
Publicado em 2014

Analysis of Skeletal Muscle Defects in Larval Zebrafish by Birefringence and Touch-evoke Escape Response Assays

Por Smith, Laura L., Beggs, Alan H., Gupta, Vandana A.
Publicado em 2013

A novel early onset phenotype in a zebrafish model of merosin deficient congenital muscular dystrophy

Por Smith, Sarah J., Wang, Jeffrey C., Gupta, Vandana A., Dowling, James J.
Publicado no PLoS One (2017)

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)

Por Patel, Nisha, Smith, Laura L., Faqeih, Eissa, Mohamed, Jawahir, Gupta, Vandana A., Alkuraya, Fowzan S.
Publicado no Hum Mol Genet (2014)

Fam65b is important for formation of the HDAC6-dysferlin protein complex during myogenic cell differentiation

Por Balasubramanian, Anuradha, Kawahara, Genri, Gupta, Vandana A., Rozkalne, Anete, Beauvais, Ariane, Kunkel, Louis M., Gussoni, Emanuela
Publicado em 2014

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans

Por Shamseldin, Hanan E., Smith, Laura L., Kentab, Amal, Alkhalidi, Hisham, Summers, Brady, Alsedairy, Haifa, Xiong, Yong, Gupta, Vandana A., Alkuraya, Fowzan S.
Publicado no Hum Genet (2015)

A Splice Site Mutation in Laminin-α2 Results in a Severe Muscular Dystrophy and Growth Abnormalities in Zebrafish

Por Gupta, Vandana A., Kawahara, Genri, Myers, Jennifer A., Chen, Aye T., Hall, Thomas E., Manzini, M. Chiara, Currie, Peter D., Zhou, Yi, Zon, Leonard I., Kunkel, Louis M., Beggs, Alan H.
Publicado em 2012

Loss of Catalytically Inactive Lipid Phosphatase Myotubularin-related Protein 12 Impairs Myotubularin Stability and Promotes Centronuclear Myopathy in Zebrafish

Por Gupta, Vandana A., Hnia, Karim, Smith, Laura L., Gundry, Stacey R., McIntire, Jessica E., Shimazu, Junko, Bass, Jessica R., Talbot, Ethan A., Amoasii, Leonela, Goldman, Nathaniel E., Laporte, Jocelyn, Beggs, Alan H.
Publicado em 2013

POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations

Por Di Costanzo, Stefania, Balasubramanian, Anuradha, Pond, Heather L., Rozkalne, Anete, Pantaleoni, Chiara, Saredi, Simona, Gupta, Vandana A., Sunu, Christine M., Yu, Timothy W., Kang, Peter B., Salih, Mustafa A., Mora, Marina, Gussoni, Emanuela, Walsh, Christopher A., Manzini, M. Chiara
Publicado em 2014

Exome Sequencing and Functional Validation in Zebrafish Identify GTDC2 Mutations as a Cause of Walker-Warburg Syndrome

Por Manzini, M. Chiara, Tambunan, Dimira E., Hill, R. Sean, Yu, Tim W., Maynard, Thomas M., Heinzen, Erin L., Shianna, Kevin V., Stevens, Christine R., Partlow, Jennifer N., Barry, Brenda J., Rodriguez, Jacqueline, Gupta, Vandana A., Al-Qudah, Abdel-Karim, Eyaid, Wafaa M., Friedman, Jan M., Salih, Mustafa A., Clark, Robin, Moroni, Isabella, Mora, Marina, Beggs, Alan H., Gabriel, Stacey B., Walsh, Christopher A.
Publicado em 2012

Mutation-Specific Effects on Thin Filament Length in Thin Filament Myopathy

Por de Winter, Josine M., Joureau, Barbara, Lee, Eun-Jeong, Kiss, Balázs, Yuen, Michaela, Gupta, Vandana A., Pappas, Christopher T., Gregorio, Carol C., Stienen, Ger J. M., Edvardson, Simon, Wallgren-Pettersson, Carina, Lehtokari, Vilma-Lotta, Pelin, Katarina, Malfatti, Edoardo, Romero, Norma B., van Engelen, Baziel G., Voermans, Nicol C., Donkervoort, Sandra, Bönnemann, C. G., Clarke, Nigel F., Beggs, Alan H., Granzier, Henk, Ottenheijm, Coen A. C.
Publicado no Ann Neurol (2016)

Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy

Por Gupta, Vandana A., Ravenscroft, Gianina, Shaheen, Ranad, Todd, Emily J., Swanson, Lindsay C., Shiina, Masaaki, Ogata, Kazuhiro, Hsu, Cynthia, Clarke, Nigel F., Darras, Basil T., Farrar, Michelle A., Hashem, Amal, Manton, Nicholas D., Muntoni, Francesco, North, Kathryn N., Sandaradura, Sarah A., Nishino, Ichizo, Hayashi, Yukiko K., Sewry, Caroline A., Thompson, Elizabeth M., Yau, Kyle S., Brownstein, Catherine A., Yu, Timothy W., Allcock, Richard J.N., Davis, Mark R., Wallgren-Pettersson, Carina, Matsumoto, Naomichi, Alkuraya, Fowzan S., Laing, Nigel G., Beggs, Alan H.
Publicado em 2013

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Por Yuen, Michaela, Sandaradura, Sarah A., Dowling, James J., Kostyukova, Alla S., Moroz, Natalia, Quinlan, Kate G., Lehtokari, Vilma-Lotta, Ravenscroft, Gianina, Todd, Emily J., Ceyhan-Birsoy, Ozge, Gokhin, David S., Maluenda, Jérome, Lek, Monkol, Nolent, Flora, Pappas, Christopher T., Novak, Stefanie M., D’Amico, Adele, Malfatti, Edoardo, Thomas, Brett P., Gabriel, Stacey B., Gupta, Namrata, Daly, Mark J., Ilkovski, Biljana, Houweling, Peter J., Davidson, Ann E., Swanson, Lindsay C., Brownstein, Catherine A., Gupta, Vandana A., Medne, Livija, Shannon, Patrick, Martin, Nicole, Bick, David P., Flisberg, Anders, Holmberg, Eva, Van den Bergh, Peter, Lapunzina, Pablo, Waddell, Leigh B., Sloboda, Darcée D., Bertini, Enrico, Chitayat, David, Telfer, William R., Laquerrière, Annie, Gregorio, Carol C., Ottenheijm, Coen A.C., Bönnemann, Carsten G., Pelin, Katarina, Beggs, Alan H., Hayashi, Yukiko K., Romero, Norma B., Laing, Nigel G., Nishino, Ichizo, Wallgren-Pettersson, Carina, Melki, Judith, Fowler, Velia M., MacArthur, Daniel G., North, Kathryn N., Clarke, Nigel F.
Publicado no J Clin Invest (2014)

Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy

Por Yuen, Michaela, Sandaradura, Sarah A., Dowling, James J., Kostyukova, Alla S., Moroz, Natalia, Quinlan, Kate G., Lehtokari, Vilma-Lotta, Ravenscroft, Gianina, Todd, Emily J., Ceyhan-Birsoy, Ozge, Gokhin, David S., Maluenda, Jérome, Lek, Monkol, Nolent, Flora, Pappas, Christopher T., Novak, Stefanie M., D’Amico, Adele, Malfatti, Edoardo, Thomas, Brett P., Gabriel, Stacey B., Gupta, Namrata, Daly, Mark J., Ilkovski, Biljana, Houweling, Peter J., Davidson, Ann E., Swanson, Lindsay C., Brownstein, Catherine A., Gupta, Vandana A., Medne, Livija, Shannon, Patrick, Martin, Nicole, Bick, David P., Flisberg, Anders, Holmberg, Eva, Van den Bergh, Peter, Lapunzina, Pablo, Waddell, Leigh B., Sloboda, Darcée D., Bertini, Enrico, Chitayat, David, Telfer, William R., Laquerrière, Annie, Gregorio, Carol C., Ottenheijm, Coen A.C., Bönnemann, Carsten G., Pelin, Katarina, Beggs, Alan H., Hayashi, Yukiko K., Romero, Norma B., Laing, Nigel G., Nishino, Ichizo, Wallgren-Pettersson, Carina, Melki, Judith, Fowler, Velia M., MacArthur, Daniel G., North, Kathryn N., Clarke, Nigel F.
Publicado no J Clin Invest (2015)