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Select item 109633021.

Nuclear pore pathology underlying multisystem proteinopathy type 3‐related inclusion body myopathy

Rumiko Izumi, Kensuke Ikeda, Tetsuya Niihori, Naoki Suzuki, Matsuyuki Shirota, Ryo Funayama, Keiko Nakayama, Hitoshi Warita, Maki Tateyama, Yoko Aoki, Masashi Aoki

Ann Clin Transl Neurol. 2024 Mar; 11(3): 577–592. Published online 2023 Dec 29. doi: 10.1002/acn3.51977

PMCID:: PMC10963302

Article PDF–7.3M

Select item 105701122.

Skeletal muscle‐specific DJ‐1 ablation‐induced atrogenes expression and mitochondrial dysfunction contributing to muscular atrophy

Shuang Zhang, Hongmei Yan, Jiyang Ding, Ruwen Wang, Yonghao Feng, Xinyi Zhang, Xingyu Kong, Hongyu Gong, Xiaodan Lu, Alice Ma, Yinghui Hua, Huan Liu, Jiani Guo, Huanqing Gao, Zhenqi Zhou, Ru Wang, Peijie Chen, Tiemin Liu, Xingxing Kong

J Cachexia Sarcopenia Muscle. 2023 Oct; 14(5): 2126–2142. Published online 2023 Jul 19. doi: 10.1002/jcsm.13290

PMCID:: PMC10570112

Article PDF–3.0M

Select item 101679723.

Nox4 knockout does not prevent diaphragm atrophy, contractile dysfunction, or mitochondrial maladaptation in the early phase post-myocardial infarction in mice

Dongwoo Hahn, Ravi A. Kumar, Derek R. Muscato, Terence E. Ryan, Katrin Schröder, Leonardo F. Ferreira

Cell Physiol Biochem. Author manuscript; available in PMC 2023 May 9.

Published in final edited form as: Cell Physiol Biochem. 2021 Aug 20; 55(4): 489–504. doi: 10.33594/000000400

PMCID:: PMC10167972

Article PDF–1.4M

Select item 98862814.

A nanobody toolbox to investigate localisation and dynamics of Drosophila titins and other key sarcomeric proteins

Vincent Loreau, Renate Rees, Eunice HoYee Chan, Waltraud Taxer, Kathrin Gregor, Bianka Mußil, Christophe Pitaval, Nuno Miguel Luis, Pierre Mangeol, Frank Schnorrer, Dirk Görlich

eLife. 2023; 12: e79343. Published online 2023 Jan 16. doi: 10.7554/eLife.79343

PMCID:: PMC9886281

Article PDF–37M

Select item 91706605.

Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center

Xi Yin, Chuanqiang Pu, Zhenfu Wang, Ke Li, HuiFang Wang

Acta Neurol Belg. 2022; 122(3): 631–639. Published online 2021 Mar 19. doi: 10.1007/s13760-020-01542-9

PMCID:: PMC9170660

Article PDF–1.1M

Select item 87180666.

Muscle mitochondrial catalase expression prevents neuromuscular junction disruption, atrophy, and weakness in a mouse model of accelerated sarcopenia

Hongyang Xu, Rojina Ranjit, Arlan Richardson, Holly Van Remmen

J Cachexia Sarcopenia Muscle. 2021 Dec; 12(6): 1582–1596. Published online 2021 Sep 24. doi: 10.1002/jcsm.12768

PMCID:: PMC8718066

Article PDF–15M

Select item 81351057.

Skeletal muscle specific mitochondrial dysfunction and altered energy metabolism in a murine model (oim/oim) of severe osteogenesis imperfecta

Victoria L. Gremminger, Emily N. Harrelson, Tara K. Crawford, Adrienne Ohler, Laura C. Schulz, R. Scott Rector, Charlotte L. Phillips

Mol Genet Metab. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: Mol Genet Metab. 2021 Apr; 132(4): 244–253. Published online 2021 Feb 20. doi: 10.1016/j.ymgme.2021.02.004

PMCID:: PMC8135105

Article PDF–1.6M

Select item 78530708.

Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy

Anne Filipe, Alexander Chernorudskiy, Sandrine Arbogast, Ersilia Varone, Rocío-Nur Villar-Quiles, Diego Pozzer, Maryline Moulin, Stefano Fumagalli, Eva Cabet, Swati Dudhal, Maria-Grazia De Simoni, Raphaël Denis, Nathalie Vadrot, Corinne Dill, Matteo Giovarelli, Luke Szweda, Clara De Palma, Paolo Pinton, Carlotta Giorgi, Carlo Viscomi, Emilio Clementi, Sonia Missiroli, Simona Boncompagni, Ester Zito, Ana Ferreiro

Cell Death Differ. 2021 Jan; 28(1): 123–138. Published online 2020 Jul 13. doi: 10.1038/s41418-020-0587-z

PMCID:: PMC7853070

Article PDF–5.0M

Select item 74606119.

IDH2 Deficiency Is Critical in Myogenesis and Fatty Acid Metabolism in Mice Skeletal Muscle

Jeong Hoon Pan, Jingsi Tang, Young Jun Kim, Jin Hyup Lee, Eui-Cheol Shin, Jiangchao Zhao, Kee-Hong Kim, Kyung A. Hwang, Yan Huang, Jae Kyeom Kim

Int J Mol Sci. 2020 Aug; 21(16): 5596. Published online 2020 Aug 5. doi: 10.3390/ijms21165596

PMCID:: PMC7460611

Article PDF–1.1M

Select item 741592110.

Day-night rhythm of skeletal muscle metabolism is disturbed in older, metabolically compromised individuals

Jakob Wefers, Niels J. Connell, Ciarán E. Fealy, Charlotte Andriessen, Vera de Wit, Dirk van Moorsel, Esther Moonen-Kornips, Johanna A. Jörgensen, Matthijs K.C. Hesselink, Bas Havekes, Joris Hoeks, Patrick Schrauwen

Mol Metab. 2020 Nov; 41: 101050. Published online 2020 Jul 11. doi: 10.1016/j.molmet.2020.101050

PMCID:: PMC7415921

Article PDF–1.5M

Select item 739609011.

Raquel Fernando, José Pedro Castro, Tanina Flore, Stefanie Deubel, Tilman Grune, Christiane Ott

Oxid Med Cell Longev. 2020; 2020: 4908162. Published online 2020 Jul 24. doi: 10.1155/2020/4908162

PMCID:: PMC7396090

Article PDF–1016K

Select item 698034812.

ASC1 is a cell cycle regulator associated with severe and mild forms of myopathy

Rocío N Villar-Quiles, Fabio Catervi, Eva Cabet, Raul Juntas-Morales, Casie A. Genetti, Teresa Gidaro, Asuman Koparir, Adnan Yüksel, Sandra Coppens, Nicolas Deconinck, Emma Pierce-Hoffman, Xavière Lornage, Julien Durigneux, Jocelyn Laporte, John Rendu, Norma B. Romero, Alan H. Beggs, Laurent Servais, Mireille Cossée, Montse Olivé, Johann Böhm, Isabelle Duband-Goulet, Ana Ferreiro

Ann Neurol. Author manuscript; available in PMC 2021 Feb 1.

Published in final edited form as: Ann Neurol. 2020 Feb; 87(2): 217–232. Published online 2019 Dec 27. doi: 10.1002/ana.25660

PMCID:: PMC6980348

Article PDF–2.4M

Select item 681253813.

ACTA1-myopathy with prominent finger flexor weakness and rimmed vacuoles

Teerin Liewluck, Zhiyv Niu, Steven A. Moore, Mohammad Alsharabati, Margherita Milone

Neuromuscul Disord. Author manuscript; available in PMC 2019 Oct 24.

Published in final edited form as: Neuromuscul Disord. 2019 May; 29(5): 388–391. Published online 2019 Mar 2. doi: 10.1016/j.nmd.2019.02.012

PMCID:: PMC6812538

Article PDF–778K

Select item 672667414.

Nemaline myopathies: a current view

Caroline A. Sewry, Jenni M. Laitila, Carina Wallgren-Pettersson

J Muscle Res Cell Motil. 2019; 40(2): 111–126. Published online 2019 Jun 21. doi: 10.1007/s10974-019-09519-9

PMCID:: PMC6726674

Article PDF–1.3M

Select item 669281515.

TFAM Enhances Fat Oxidation and Attenuates High-Fat Diet–Induced Insulin Resistance in Skeletal Muscle

Jin-Ho Koh, Matthew L. Johnson, Surendra Dasari, Nathan K. LeBrasseur, Ivan Vuckovic, Gregory C. Henderson, Shawna A. Cooper, Shankarappa Manjunatha, Gregory N. Ruegsegger, Gerald I. Shulman, Ian R. Lanza, K. Sreekumaran Nair

Diabetes. 2019 Aug; 68(8): 1552–1564. Published online 2019 May 14. doi: 10.2337/db19-0088

Correction in:: Diabetes. 2020 Aug; 69(8): 1854.

PMCID:: PMC6692815

Article PDF–2.6M

Select item 669099516.

CYLD dysregulation in pathogenesis of sporadic inclusion body myositis

Satoshi Yamashita, Yoshimasa Matsuo, Nozomu Tawara, Kentaro Hara, Masanori Yamamoto, Tomo Nishikami, Kensuke Kawakami, Xiao Zhang, Ziwei Zhang, Tsukasa Doki, Yukio Ando

Sci Rep. 2019; 9: 11606. Published online 2019 Aug 12. doi: 10.1038/s41598-019-48115-2

PMCID:: PMC6690995

Article PDF–9.2M

Select item 662788017.

ACTN3 R577X Genotype and Exercise Phenotypes in Recreational Marathon Runners

Juan Del Coso, Victor Moreno, Jorge Gutiérrez-Hellín, Gabriel Baltazar-Martins, Carlos Ruíz-Moreno, Millán Aguilar-Navarro, Beatriz Lara, Alejandro Lucía

Genes (Basel) 2019 Jun; 10(6): 413. Published online 2019 May 29. doi: 10.3390/genes10060413

PMCID:: PMC6627880

Article PDF–1.3M

Select item 662176718.

An Early Onset Progressive Motor Neuron Disorder in Scyl1-Deficient Mice Is Associated with Mislocalization of TDP-43

Stephane Pelletier, Sebastien Gingras, Sherie Howell, Peter Vogel, James N. Ihle

J Neurosci. 2012 Nov 21; 32(47): 16560–16573. doi: 10.1523/JNEUROSCI.1787-12.2012

PMCID:: PMC6621767

Article PDF–4.6M

Select item 655685419.

Targeting ER stress/ER stress response in myopathies

Ester Zito

Redox Biol. 2019 Sep; 26: 101232. Published online 2019 Jun 4. doi: 10.1016/j.redox.2019.101232

PMCID:: PMC6556854

Article PDF–968K

Select item 652681520.

VCP maintains lysosomal homeostasis and TFEB activity in differentiated skeletal muscle

Khalid Arhzaouy, Chrisovalantis Papadopoulos, Nina Schulze, Sara K. Pittman, Hemmo Meyer, Conrad C. Weihl

Autophagy. 2019; 15(6): 1082–1099. Published online 2019 Jan 29. doi: 10.1080/15548627.2019.1569933

PMCID:: PMC6526815

Article PDF–4.5M

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