Expanded clinical phenotype and untargeted metabolomics analysis in RARS2-related mitochondrial disorder: a case report.

Autor: Walimbe, Ameya S.^1,2 (AUTHOR), Machol, Keren^2,3 (AUTHOR), Kralik, Stephen F.⁴ (AUTHOR), Mizerik, Elizabeth A.^2,3 (AUTHOR), Yoel Gofn^5,6 (AUTHOR), Bekheirnia, Mir Reza^2,3 (AUTHOR), Gijavanekar, Charul³ (AUTHOR), Elsea, Sarah H.³ (AUTHOR), Emrick, Lisa T.^1,2 (AUTHOR), Scaglia, Fernando^2,3 (AUTHOR) fscaglia@bcm.edu

Publikováno v: BMC Neurology. 3/4/2024, Vol. 24 Issue 1, p1-8. 8p. 1 Black and White Photograph, 1 Chart.

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N-terminal domain on dystroglycan enables LARGE1 to extend matriglycan on a-dystroglycan and prevents muscular dystrophy.

Autor: Hidehiko Okuma, Hord, Jeffrey M., Chandel, Ishita, Venzke, David, Anderson, Mary E., Walimbe, Ameya S., Joseph, Soumya, Gastel, Zeita, Hara, Yuji, Fumiaki Saito, Kiichiro Matsumura, Campbell, Kevin P.

Publikováno v: eLife; 2/10/2023, p1-26, 26p

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Identification of a short, single site matriglycan that maintains neuromuscular function in the mouse.

Autor: Yang T; Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242 USA.; Department of Immunology, Harvard Medical School, Boston, MA 02115, USA., Chandel I; Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242 USA., Gonzales M; Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242 USA., Okuma H; Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242 USA., Prouty SJ; Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242 USA., Zarei S; Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242 USA., Joseph S; Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242 USA., Garringer KW; Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242 USA., Landa SO; Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242 USA., Yonekawa T; Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242 USA., Walimbe AS; Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242 USA., Venzke DP; Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242 USA., Anderson ME; Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242 USA., Hord JM; Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242 USA., Campbell KP; Howard Hughes Medical Institute, Department of Molecular Physiology and Biophysics, Department of Neurology, University of Iowa Roy J. and Lucille A. Carver College of Medicine, Iowa City, IA 52242 USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2023 Dec 21. Date of Electronic Publication: 2023 Dec 21.