Rare pathogenic variants in WNK3 cause X-linked intellectual disability

Authors: Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M., Josiah, Sunday S., Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J., Hao, Le T., Li, Hong, Stevenson, Roger E., Louie, Raymond J., Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F. Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A., Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M., Barr, Eileen E., Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G., Monaghan, Kristin G., Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K., Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M., Berger, Sara M., Milla, Sarah S., Jaykumar, Ankita B., Cobb, Melanie H., Panchagnula, Shreyas, Duy, Phan Q., Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill. A., Friez, Michael J., Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E., Schwartz, Charles E., Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T., Isidor, Bertrand

Source: In Genetics in Medicine September 2022 24(9):1941-1951

An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function

Authors: Lotti, Francesco, Imlach, Wendy L., Saieva, Luciano, Beck, Erin S., Hao, Le T., Li, Darrick K., Jiao, Wei, Mentis, George Z., Beattie, Christine E., McCabe, Brian D., Pellizzoni, Livio

Source: In Cell 12 October 2012 151(2):440-454

Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits

Authors: Akten, Bikem, Kye, Min Jeong, Hao, Le T., Wertz, Mary H., Singh, Sasha, Nie, Duyu, Huang, Jia, Merianda, Tanuja T., Twiss, Jeffery L., Beattie, Christine E., Steen, Judith A. J., Sahin, Mustafa

Source: Proceedings of the National Academy of Sciences of the United States of America, 2011 Jun . 108(25), 10337-10342.

Access URL: https://www.jstor.org/stable/27978607

Generation and Characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene

Authors: Beattie Christine E, Burghes Arthur HM, Hao Le T

Source: Molecular Neurodegeneration, Vol 6, Iss 1, p 24 (2011)

Subject Terms: Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6

File Description: electronic resource

Relation: http://www.molecularneurodegeneration.com/content/6/1/24; https://doaj.org/toc/1750-1326

Access URL: https://doaj.org/article/918e594f64034f45813262840c054ac6

Small Molecule Suppressors of Drosophila Kinesin Deficiency Rescue Motor Axon Development in a Zebrafish Model of Spinal Muscular Atrophy.

Authors: Gassman, Andrew¹, Hao, Le T.², Bhoite, Leena³, Bradford, Chad L.¹, Chien, Chi-Bin⁴, Beattie, Christine E.², Manfredi, John P.⁵ john.manfredi@sfidabiologic.com

Source: PLoS ONE. Sep2013, Vol. 8 Issue 9, p1-16. 16p.

Subject Terms: *TREATMENT of spinal muscular atrophy, *DROSOPHILA, *KINESIN, *NEUROPATHY, *INFANT mortality, *PHARMACOLOGY, *LABORATORY zebrafish

Recessive Inheritance of Congenital Hydrocephalus With Other Structural Brain Abnormalities Caused by Compound Heterozygous Mutations in ATP1A3.

Authors: Allocco, August A., Jin, Sheng Chih, Duy, Phan Q., Furey, Charuta G., Zeng, Xue, Dong, Weilai, Nelson-Williams, Carol, Karimy, Jason K., DeSpenza, Tyrone, Hao, Le T., Reeves, Benjamin, Haider, Shozeb, Gunel, Murat, Lifton, Richard P., Kahle, Kristopher T.

Source: Frontiers in Cellular Neuroscience; 9/26/2019, p1-8, 8p

Subject Terms: BRAIN abnormalities, NEMALINE myopathy, NEURAL stem cells, HYDROCEPHALUS, ARNOLD-Chiari deformity, CORPUS callosum

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Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpgl 5 rescues motor neuron axonal deficits.

Authors: Akten, Bikem, Min Jeong Kye, Hao, Le T., Wertz, Mary H., Singh, Sasha, Duyu Nie, Jia Huang, Merianda, Tanuja T., Twiss, Jeffery L., Beattie, Christine E., Steen, Judith A. J., Sahin, Mustafa

Source: Proceedings of the National Academy of Sciences of the United States of America; 6/21/2011, Vol. 108 Issue 25, p10337-10342, 6p

Subject Terms: SPINAL muscular atrophy, MUSCULAR atrophy, MOTOR neurons, BRAIN, AXONS

Generation and Characterization of a genetic zebrafish model of SMA carrying the human SMN2 gene.

Authors: Hao, Le T., Burghes, Arthur H. M., Beattie, Christine E.

Source: Molecular Neurodegeneration; 2011, Vol. 6 Issue 1, p24-32, 9p

Subject Terms: SPINAL muscular atrophy, MOTOR neurons, NUCLEIC acids, GENETIC models, TRANSGENES

Rare pathogenic variants in WNK3cause X-linked intellectual disability

Authors: Küry, Sébastien, Zhang, Jinwei, Besnard, Thomas, Caro-Llopis, Alfonso, Zeng, Xue, Robert, Stephanie M., Josiah, Sunday S., Kiziltug, Emre, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Kundishora, Adam J., Hao, Le T., Li, Hong, Stevenson, Roger E., Louie, Raymond J., Deb, Wallid, Torti, Erin, Vignard, Virginie, McWalter, Kirsty, Raymond, F. Lucy, Rajabi, Farrah, Ranza, Emmanuelle, Grozeva, Detelina, Coury, Stephanie A., Blanc, Xavier, Brischoux-Boucher, Elise, Keren, Boris, Õunap, Katrin, Reinson, Karit, Ilves, Pilvi, Wentzensen, Ingrid M., Barr, Eileen E., Guihard, Solveig Heide, Charles, Perrine, Seaby, Eleanor G., Monaghan, Kristin G., Rio, Marlène, van Bever, Yolande, van Slegtenhorst, Marjon, Chung, Wendy K., Wilson, Ashley, Quinquis, Delphine, Bréhéret, Flora, Retterer, Kyle, Lindenbaum, Pierre, Scalais, Emmanuel, Rhodes, Lindsay, Stouffs, Katrien, Pereira, Elaine M., Berger, Sara M., Milla, Sarah S., Jaykumar, Ankita B., Cobb, Melanie H., Panchagnula, Shreyas, Duy, Phan Q., Vincent, Marie, Mercier, Sandra, Gilbert-Dussardier, Brigitte, Le Guillou, Xavier, Audebert-Bellanger, Séverine, Odent, Sylvie, Schmitt, Sébastien, Boisseau, Pierre, Bonneau, Dominique, Toutain, Annick, Colin, Estelle, Pasquier, Laurent, Redon, Richard, Bouman, Arjan, Rosenfeld, Jill. A., Friez, Michael J., Pérez-Peña, Helena, Akhtar Rizvi, Syed Raza, Haider, Shozeb, Antonarakis, Stylianos E., Schwartz, Charles E., Martínez, Francisco, Bézieau, Stéphane, Kahle, Kristopher T., Isidor, Bertrand

Source: Genetics in Medicine; 20220101, Issue: Preprints