Article
Cell Biology
Xiaoxiao Ouyang, Xueyun Wang, Pan Li, Qin Huang, Li Zhou, Jingxiang Li, Li Gao, Qi Sun, Fangni Chai, Shupan Guo, Zhihui Zhou, Xin Liu, Lunzhi Dai, Wei Cheng, Haiyan Ren
Summary: In this study, the host protein ZPR1 was identified as an interacting partner of the EPEC effector NleE through protein crosslinking. It was found that ZPR1 regulates CHOP-mediated UPRER at the transcriptional level through liquid-liquid phase separation. Interestingly, NleE disrupts the binding ability of ZPR1 with K63-ubiquitin chains, which promotes its liquid-liquid phase separation. Further analysis showed that EPEC restricts host UPRER pathways at the transcription level in a cascade-dependent manner between NleE and ZPR1. Overall, this study reveals the mechanism by which EPEC interferes with CHOP-UPRER through regulating ZPR1 to facilitate immune evasion.
Editorial Material
Plant Sciences
Li Song, Weitao Li, Xuewei Chen
Summary: A recent study demonstrates the role of the rice TF APIP5 in immune regulation, expanding our understanding of plant TFs beyond their transcription factor functions.
TRENDS IN PLANT SCIENCE
(2022)
Article
Neurosciences
Goran Simic, Vana Vukic, Marija Babic, Maria Banovic, Ivana Berecic, Ena Spanic, Klara Zubcic, Anja Tea Golubic, Marija Barisic Kutija, Ana Merkler Sorgic, Zeljka Vogrinc, Ivan Lehman, Patrick R. Hof, Jadranka Sertic, Nina Barisic
Summary: This study aimed to identify reliable markers for monitoring treatment response and predicting treatment outcomes in patients with spinal muscular atrophy (SMA). The main finding was that the concentration of total tau protein in cerebrospinal fluid (CSF) correlated significantly with the duration of nusinersen treatment and motor improvement in SMA patients. The measurement of total tau concentration in CSF can serve as a reliable index for monitoring biomarker and clinical response to nusinersen therapy in SMA patients.
CNS NEUROSCIENCE & THERAPEUTICS
(2022)
Review
Pharmacology & Pharmacy
Mohsan Iftikhar, Justin Frey, Md Jasimuddin Shohan, Sohail Malek, Shaker A. Mousa
Summary: Many neuromuscular diseases are genetically inherited, with two common ones being Duchenne Muscular Dystrophy and Spinal Muscular Atrophy. Patients with these diseases often require supportive therapy, nutrition, and respiratory assistance, with FDA-approved drug therapies available to treat specific types of DMD and SMA.
PHARMACOLOGY & THERAPEUTICS
(2021)
Article
Biochemical Research Methods
Zheng Li, Xingye Li, Jianxiong Shen, Haining Tan, Tianhua Rong, Youxi Lin, Erwei Feng, Zhengguang Chen, Yang Jiao, Gang Liu, Lin Zhang, Matthew Tak Vai Chan, William Ka Kei Wu
Summary: Patients with spinal muscular atrophy (SMA) who contract COVID-19 may exhibit mild-to-moderate pneumonia symptoms, which can be relieved by antiviral and supportive treatment. Within a cohort of SMA patients residing in Hubei province, there was a low rate of COVID-19 diagnoses, suggesting a potential genetic influence.
BRIEFINGS IN BIOINFORMATICS
(2021)
Article
Clinical Neurology
Christophe Boulay, Emilien Delmont, Frederique Audic, Brigitte Chabrol, Shahram Attarian
Summary: The study demonstrated the feasibility and clinical relevance of using the MUNIX technique in pediatric SMA patients, showing potential as a useful biomarker for assessing disease progression and treatment response.
Review
Clinical Neurology
Gayatri Gandhi, Syahril Abdullah, Agus Iwan Foead, Wendy Wai Yeng Yeo
Summary: Spinal muscular atrophy is a neurodegenerative disease caused by low levels of the survival motor neuron protein due to genetic mutations. Current FDA-approved therapies for SMA may not be sufficient, leading to a need for additional treatments. miRNAs have shown potential as a therapeutic strategy for SMA, but challenges remain in effectively delivering them to target cells.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Review
Neurosciences
Brunhilde Wirth
Summary: The review highlights the challenging journey from gene discovery to therapy in spinal muscular atrophy (SMA), emphasizing the importance of perseverance in uncovering the biological mechanisms of the disease. Despite the impressive improvements seen with three therapeutic strategies in SMA, there are still many unanswered questions that need to be addressed as discussed in the review.
TRENDS IN NEUROSCIENCES
(2021)
Article
Pharmacology & Pharmacy
Theodora Markati, Gemma Fisher, Sithara Ramdas, Laurent Servais
Summary: In this review, the authors critically evaluate the role of risdiplam in the treatment of spinal muscular atrophy (SMA). They provide an overview of the current market for SMA, discuss the mechanism of action and pharmacological properties of risdiplam, and present the results from phase 2/3 clinical trials. The authors conclude that risdiplam has shown efficacy and a satisfactory safety profile in pivotal trials for different types of SMA.
EXPERT OPINION ON INVESTIGATIONAL DRUGS
(2022)
Article
Clinical Neurology
Tyler R. R. Fortuna, Sukhleen Kour, Anuradha Venkatakrishnan Chimata, Anixa Muinos-Buehl, Eric N. N. Anderson, Charlie H. H. Nelson IV, Caroline Ward, Om Chauhan, Casey O'Brien, Dhivyaa Rajasundaram, Deepa S. S. Rajan, Brunhilde Wirth, Amit Singh, Udai Bhan Pandey
Summary: GEMIN5 is essential for the assembly of snRNPs and its dysfunction is associated with neurodevelopmental disorders. This study reveals that SMN acts as a genetic suppressor of GEMIN5-mediated neurodegeneration by enhancing GEMIN5 expression. The expression patterns of SMN and GEMIN5 are strongly associated in SMA-derived motor neurons with SMN gene mutations.
ACTA NEUROPATHOLOGICA
(2023)
Article
Multidisciplinary Sciences
Susanne Wegmann, Sarah L. DeVos, Bryan Zeitler, Kimberly Marlen, Rachel E. Bennett, Marta Perez-Rando, Danny MacKenzie, Qi Yu, Caitlin Commins, Riley N. Bannon, Bianca T. Corjuc, Alison Chase, Lisa Diez, Hoang-Oanh B. Nguyen, Sarah Hinkley, Lei Zhang, Alicia Goodwin, Annemarie Ledeboer, Stephen Lam, Irina Ankoudinova, Hung Tran, Nicholas Scarlott, Rainier Amora, Richard Surosky, Jeffrey C. Miller, Ashley B. Robbins, Edward J. Rebar, Fyodor D. Urnov, Michael C. Holmes, Amy M. Pooler, Brigit Riley, H. Steve Zhang, Bradley T. Hyman
Summary: The study demonstrates that reducing tau protein expression using gene-silencing technology can effectively rescue neuronal damage in an Alzheimer's disease model, with sustained effects and no detectable side effects. This approach shows promise for the treatment of tau-related human brain diseases.
Article
Clinical Neurology
Marzieh Khani, Shahriar Nafissi, Hosein Shamshiri, Hamidreza Moazzeni, Hanieh Taheri, Mehdi Sadeghi, Najmeh Salehi, Fereshteh Chitsazian, Elahe Elahi
Summary: This study reports the identification of UBA1 as a novel causative gene for SBMA. A missense mutation in UBA1 was found to be the possible cause of non-Kennedy SBMA in a pedigree. The study also discusses the contribution of UBA1 to the etiology of XL-SMA.
EUROPEAN JOURNAL OF NEUROLOGY
(2022)
Article
Medicine, General & Internal
Sally Dunaway Young, Jacqueline Montes, Allan M. Glanzman, Richard Gee, John W. Day, Richard S. Finkel, Basil T. Darras, Darryl C. De Vivo, Giulia Gambino, Richard Foster, Janice Wong, Steve Garafalo, Zdenek Berger
Summary: Nusinersen treatment can improve or stabilize motor function in non-ambulatory children with later-onset spinal muscular atrophy (SMA). The severity of baseline scoliosis is associated with later motor function, with greater decline in motor function observed in children with more severe scoliosis.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, Research & Experimental
Audrey M. Winkelsas, Christopher Grunseich, George G. Harmison, Katarzyna Chwalenia, Carlo Rinaldi, Suzan M. Hammond, Kory Johnson, Melissa Bowerman, Sukrat Arya, Kevin Talbot, Matthew J. Wood, Kenneth H. Fischbeck
Summary: Research shows that ASOs targeting the 50 end of SMN2 can increase SMN mRNA and protein levels by inhibiting SMN2 mRNA decay. Combining 50 UTR ASO with SSO can elevate SMN levels beyond those achieved with SSO alone, offering a new therapeutic target for SMA.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2021)
Article
Nutrition & Dietetics
Qi Long, Yijie Feng, Fei Chen, Wenqiao Wang, Ming Ma, Shanshan Mao
Summary: This study aimed to evaluate the relationship between serum zinc levels and lipid profiles in children with spinal muscular atrophy (SMA). The results showed that serum zinc levels were positively correlated with high-density lipoprotein cholesterol (HDL-C) and apolipoprotein A1 (APO A1) levels in children with SMA. Therefore, measures should be taken to correct the lower serum zinc levels in order to improve lipid profiles in SMA children.
FRONTIERS IN NUTRITION
(2022)
Article
Neurosciences
Matthew E. R. Butchbach, Casey J. Lumpkin, Ashlee W. Harris, Luciano Saieva, Jonathan D. Edwards, Eileen Workman, Louise R. Simard, Livio Pellizzoni, Arthur H. M. Burghes
EXPERIMENTAL NEUROLOGY
(2016)
Article
Neurosciences
W. Arnold, Vicki L. McGovern, Benjamin Sanchez, Jia Li, Kaitlyn M. Corlett, Stephen J. Kolb, Seward B. Rutkove, Arthur H. Burghes
NEUROBIOLOGY OF DISEASE
(2016)
Article
Clinical Neurology
Stanley Iyadurai, W. David Arnold, John T. Kissel, Corey Ruhno, Vicki L. McGovern, Pamela J. Snyder, Thomas W. Prior, Jennifer Roggenbuck, Arthur H. Burghes, Stephen J. Kolb
Article
Clinical Neurology
E. P. Hoffman, Carsten Bonnemann, Marc Boutin, Bernard Brais, Filippo Buccella, Arthur Burghes, Christopher Coffey, Nabarun Dasgupta, Hugh Dawkins, Annamaria De Luca, Christopher Dowd, Tina Duong, Michelle Eagle, Richard Finkel, Pat Furlong, Cynthia Gagnon, Nathalie Goemans, Michela Guglieri, Yetrib Hathout, Nicholas Johnson, Emil Kakkis, Petra Kaufmann, Jonathan Kimmelman, Lawrence Korngut, Joyce Kullman, Hanns Lochmuller, Stefano Marini, Craig McDonald, Charles Mohan, Lauren Morgenroth, Hiroki Morizono, Kanneboyina Nagaraju, John Porter, Lori Reilly, Markus Ruegg, Joel Schneider, Pietro Spitali, Volker Straub, Lee Sweeney, Giorgio Tasca, Cathy Turner, Olav Veldhuizen, Jan Verschuuren, Susan Ward, Raffaella Willmann
NEUROMUSCULAR DISORDERS
(2017)
Article
Medicine, General & Internal
J. R. Mendell, S. Al-Zaidy, R. Shell, W. D. Arnold, L. R. Rodino-Klapac, T. W. Prior, L. Lowes, L. Alfano, K. Berry, K. Church, J. T. Kissel, S. Nagendran, J. L'Italien, D. M. Sproule, C. Wells, J. A. Cardenas, M. D. Heitzer, A. Kaspar, S. Corcoran, L. Braun, S. Likhite, C. Miranda, K. Meyer, K. D. Foust, A. H. M. Burghes, B. K. Kaspar
NEW ENGLAND JOURNAL OF MEDICINE
(2017)
Article
Geriatrics & Gerontology
Kajri A. Sheth, Chitra C. Iyer, Christopher G. Wier, Alexander E. Crum, Anna Bratasz, Stephen J. Kolb, Brian C. Clark, Arthur H. M. Burghes, W. David Arnold
NEUROBIOLOGY OF AGING
(2018)
Retraction
Biochemistry & Molecular Biology
Sarmila Majumder, Saradhadevi Varadharaj, Kalpana Ghoshal, Umrao Monani, Arthur H. M. Burghes, Samson T. Jacob
JOURNAL OF BIOLOGICAL CHEMISTRY
(2018)
Article
Microbiology
Afzal Hussain, Mohamed F. Alajmi, Meraj A. Khan, Syed A. Pervez, Faheem Ahmed, Samira Amir, Fohad M. Husain, Mohd S. Khan, Gouse M. Shaik, Iftekhar Hassan, Rais A. Khan, Md Tabish Rehman
FRONTIERS IN MICROBIOLOGY
(2019)
Article
Biochemistry & Molecular Biology
Mohd Shahnawaz Khan, Shams Tabrez, Majed S. Al-Okail, Gouse M. Shaik, Sheraz Ahmad Bhat, Tabish M. Rehman, Fohad Mabood Husain, Mohamed F. AlAjmi
Summary: Methylglyoxal (MG) is a potent glycating agent that leads to conformational changes in HSA and amyloid formation, which can be inhibited by quercetin. The study demonstrates that quercetin effectively reverses the adverse effects of MG by sterically inhibiting the interaction between HSA and MG.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2021)
Article
Geriatrics & Gerontology
Deepti Chugh, Chitra C. Iyer, Prameela Bobbili, Anton J. Blatnik, Brian K. Kaspar, Kathrin Meyer, Arthur H. M. Burghes, Brian C. Clark, W. David Arnold
Summary: The combination of exercise and FST overexpression has positive effects on neuromuscular junction transmission and muscle mass in aging mice, but does not affect motor unit degeneration.
NEUROBIOLOGY OF AGING
(2021)
Article
Geriatrics & Gerontology
Chitra C. Iyer, Deepti Chugh, Prameela J. Bobbili, Anton J. Blatnik, Alexander E. Crum, Allen F. Yi, Brian K. Kaspar, Kathrin C. Meyer, Arthur H. M. Burghes, W. David Arnold
Summary: Research showed that muscle hypertrophy induced by overexpression of follistatin not only increased muscle weight and torque production, but also counteracted age-related degeneration at the neuromuscular junction in mice.
NEUROBIOLOGY OF AGING
(2021)
Article
Pharmacology & Pharmacy
Mohd Shahnawaz Khan, Alya Alomari, Shams Tabrez, Iftekhar Hassan, Rizwan Wahab, Sheraz Ahmad Bhat, Nouf Omar Alafaleq, Nojood Altwaijry, Gouse M. Shaik, Syed Kashif Zaidi, Wessam Nouh, Majed S. Alokail, Mohamed A. Ismael
Summary: The study synthesized silver nanoparticles using plant extract and evaluated their anticancer potential. Results indicate that AgNPs have promising therapeutic effects against breast and colorectal cancers, possibly through inducing cell death via increased ROS production.
Article
Biochemistry & Molecular Biology
Anton J. Blatnik, Vicki L. McGovern, Arthur H. M. Burghes
Summary: Proximal spinal muscular atrophy (SMA) is a genetic disorder characterized by motor neuron loss and skeletal muscle atrophy due to deficiency of the essential survival motor neuron (SMN) protein. Therapeutics aimed at increasing SMN protein levels have shown efficacy in treating SMA, but the mechanisms underlying motor neuron loss are still not well understood. Genetics and biochemistry have provided insights into SMA and SMN, from identifying genetic regions to developing potential treatments, but further research is needed to determine critical pathways in SMA.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Gretchen Thomsen, Arthur H. M. Burghes, Caroline Hsieh, Janet Do, Binh T. T. Chu, Stephanie Perry, Basam Barkho, Petra Kaufmann, Douglas M. Sproule, Douglas E. Feltner, Wendy K. Chung, Vicki L. McGovern, Robert F. Hevner, Miriam Conces, Christopher R. Pierson, Mariacristina Scoto, Francesco Muntoni, Jerry R. Mendell, Kevin D. Foust
Summary: Biodistribution analysis of two patients with spinal muscular atrophy shows widespread onasemnogene abeparvovec DNA, mRNA and SMN protein throughout the central nervous system and peripheral organs following intravenous gene therapy administration. Both patients experienced varying outcomes after receiving the treatment, including improved motor function in one patient and death in the other shortly after administration. The study demonstrates effective distribution, transduction, and expression of onasemnogene abeparvovec throughout the CNS, supporting its potential for restoring SMN expression in individuals with SMA1.
Article
Clinical Neurology
Stephen J. Kolb, Christopher S. Coffey, Jon W. Yankey, Kristin Krosschell, W. David Arnold, Seward B. Rutkove, Kathryn J. Swoboda, Sandra P. Reyna, Ai Sakonju, Basil T. Darras, Richard Shell, Nancy Kuntz, Diana Castro, Julie Parsons, Anne M. Connolly, Claudia A. Chiriboga, Craig McDonald, W. Bryan Burnette, Klaus Werner, Mathula Thangarajh, Perry B. Shieh, Erika Finanger, Merit E. Cudkowicz, Michelle M. McGovern, D. Elizabeth McNeil, Richard Finkel, Susan T. Iannaccone, Edward Kaye, Allison Kingsley, Samantha R. Renusch, Vicki L. McGovern, Xueqian Wang, Phillip G. Zaworski, Thomas W. Prior, Arthur H. M. Burghes, Amy Bartlett, John T. Kissel
ANNALS OF NEUROLOGY
(2017)