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Mouse models of NADK2 deficiency analyzed for metabolic and gene expression changes to elucidate pathophysiology Murray, G. C.; Bais, P.; Hatton, C. L.; Tadenev, A. L. D.; Hoffmann, B. R.; Stodola, T. J.; Morelli, K. H.; Pratt, S. L.; Schroeder, D.; Doty, R.; Fiehn, O.; John, S. W. M.; Bult, C. J.; Cox, G. A.; Burgess, R. W. 分享 收藏
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Convergence of mammalian RQC and C-end rule proteolytic pathways via alanine tailing Thrun, Anna; Garzia, Aitor; Kigoshi-Tansho, Yu; Patil, Pratik R.; Umbaugh, Charles S.; Dallinger, Teresa; Liu, Jia; Kreger, Sylvia; Patrizi, Annarita; Cox, Gregory A.; Tuschl, Thomas; Joazeiro, Claudio A. P. 分享 收藏
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease (vol 11, 4625, 2020) Martin, Paige B.; Kigoshi-Tansho, Yu; Sher, Roger B.; Ravenscroft, Gianina; Stauffer, Jennifer E.; Kumar, Rajesh; Yonashiro, Ryo; Mueller, Tina; Griffith, Christopher; Allen, William; Pehlivan, Davut; Harel, Tamar; Zenker, Martin; Howting, Denise; Schanze, Denny; Faqeih, Eissa A.; Almontashiri, Naif A. M.; Maroofian, Reza; Houlden, Henry; Mazaheri, Neda; Galehdari, Hamid; Douglas, Ganka; Posey, Jennifer E.; Ryan, Monique; Lupski, James R.; Laing, Nigel G.; Joazeiro, Claudio A. P.; Cox, Gregory A. 分享 收藏
NEMF mutations that impair ribosome-associated quality control are associated with neuromuscular disease 损害核糖体相关质量控制的NEMF突变与神经肌肉疾病相关 Martin, Paige B.; Kigoshi-Tansho, Yu; Sher, Roger B.; Ravenscroft, Gianina; Stauffer, Jennifer E.; Kumar, Rajesh; Yonashiro, Ryo; Mueller, Tina; Griffith, Christopher; Allen, William; Pehlivan, Davut; Harel, Tamar; Zenker, Martin; Howting, Denise; Schanze, Denny; Faqeih, Eissa A.; Almontashiri, Naif A. M.; Maroofian, Reza; Houlden, Henry; Mazaheri, Neda; Galehdari, Hamid; Douglas, Ganka; Posey, Jennifer E.; Ryan, Monique; Lupski, James R.; Laing, Nigel G.; Joazeiro, Claudio A. P.; Cox, Gregory A. 分享 收藏
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Absence of UCHL 1 function leads to selective motor neuropathy Genc, Baris; Jara, Javier H.; Schultz, Megan C.; Manuel, Marin; Stanford, Macdonell J.; Gautam, Mukesh; Klessner, Jodi L.; Sekerkova, Gabriella; Heller, Daniel B.; Cox, Gregory A.; Heckman, Charles J.; DiDonato, Christine J.; Ozdinler, P. Hande 分享 收藏
Effect of genetic background on the dystrophic phenotype in mdx mice Coley, William D.; Bogdanik, Laurent; Vila, Maria Candida; Yu, Qing; Van der Meulen, Jack H.; Rayavarapu, Sree; Novak, James S.; Nearing, Marie; Quinn, James L.; Saunders, Allison; Dolan, Connor; Andrews, Whitney; Lammert, Catherine; Austin, Andrew; Partridge, Terence A.; Cox, Gregory A.; Lutz, Cathleen; Nagaraju, Kanneboyina 分享 收藏
Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders Fairfield, Heather; Srivastava, Anuj; Ananda, Guruprasad; Liu, Rangjiao; Kircher, Martin; Lakshminarayana, Anuradha; Harris, Belinda S.; Karst, Son Yong; Dionne, Louise A.; Kane, Coleen C.; Curtain, Michelle; Berry, Melissa L.; Ward-Bailey, Patricia F.; Greenstein, Ian; Byers, Candice; Czechanski, Anne; Sharp, Jocelyn; Palmer, Kristina; Gudis, Polyxeni; Martin, Whitney; Tadenev, Abby; Bogdanik, Laurent; Pratt, C. Herbert; Chang, Bo; Schroeder, David G.; Cox, Gregory A.; Cliften, Paul; Milbrandt, Jeffrey; Murray, Stephen; Burgess, Robert; Bergstrom, David E.; Donahue, Leah Rae; Hamamy, Hanan; Masri, Amira; Santoni, Federico A.; Makrythanasis, Periklis; Antonarakis, Stylianos E.; Shendure, Jay; Reinholdt, Laura G. 分享 收藏
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A Direct HDAC4-MAP Kinase Crosstalk Activates Muscle Atrophy Program Choi, Moon-Chang; Cohen, Todd J.; Barrientos, Tomasa; Wang, Bin; Li, Ming; Simmons, Bryan J.; Yang, Jeong Soo; Cox, Gregory A.; Zhao, Yingming; Yao, Tso-Pang 分享 收藏
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Muscle choline kinase beta defect causes mitochondrial dysfunction and increased mitophagy Mitsuhashi, Satomi; Hatakeyama, Hideyuki; Karahashi, Minako; Koumura, Tomoko; Nonaka, Ikuya; Hayashi, Yukiko K.; Noguchi, Satoru; Sher, Roger B.; Nakagawa, Yasuhito; Manfredi, Giovanni; Goto, Yu-ichi; Cox, Gregory A.; Nishino, Ichizo 分享 收藏