Letter
Medicine, General & Internal
Carsten G. Boennemann, Beth A. Belluscio, Serge Braun, Carl Morris, Teji Singh, Francesco Muntoni
Summary: Five boys with Duchenne's muscular dystrophy received gene therapy using three different AAV products. However, they experienced serious adverse reactions and laboratory findings indicated cytotoxic T-cell immune responses.
NEW ENGLAND JOURNAL OF MEDICINE
(2023)
Article
Geriatrics & Gerontology
Christopher R. Heier, Nikki M. McCormack, Christopher B. Tully, James S. Novak, Breanne L. Newell-Stamper, Alan J. Russell, Alyson A. Fiorillo
Summary: Becker muscular dystrophy (BMD) is a genetic neuromuscular disease caused by mutations in the dystrophin gene. Unlike Duchenne muscular dystrophy, BMD is less severe. However, there is a lack of research and treatment options for BMD, partly due to the absence of a mouse model.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Article
Cell Biology
Justin P. Hardee, Marissa K. Caldow, Audrey S. M. Chan, Stuart K. Plenderleith, Jennifer Trieu, Rene Koopman, Gordon S. Lynch
Summary: The study showed that in dystrophin-deficient mdx mice, the regulation of core clock and mitochondrial quality control in muscles is impaired, suggesting relevance to DMD and related disorders.
AMERICAN JOURNAL OF PHYSIOLOGY-CELL PHYSIOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Anna Codina, Monica Roldan, Daniel Natera-de Benito, Carlos Ortez, Robert Planas, Leslie Matalonga, Daniel Cuadras, Laura Carrera, Jesica Exposito, Jesus Marquez, Cecilia Jimenez-Mallebrera, Josep M. Porta, Andres Nascimento, Cristina Jou
Summary: We developed a method for quantifying dystrophin in DMD and BMD patients using spectral confocal microscopy. The proposed methodology correctly classified patients according to their diagnosis and automated ROI selection. Spectral imaging could be implemented to measure dystrophin expression and pave the way for detailed analysis of its relation to the clinical course. Further studies could be done to understand the expression of dystrophin-associated protein complexes (DAPCs).
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Review
Clinical Neurology
Mengyuan Chang, Yong Cai, Zihui Gao, Xin Chen, Boya Liu, Cheng Zhang, Weiran Yu, Qianqian Cao, Yuntian Shen, Xinlei Yao, Xiaoyang Chen, Hualin Sun
Summary: Duchenne muscular dystrophy (DMD) is a severe and progressive muscle-wasting disease, characterized by deterioration of skeletal muscle and loss of mobility. The failure of respiratory and cardiac muscles is the main cause of premature death in most DMD patients. Dystrophin deficiency, caused by mutations in the dystrophin gene, plays a crucial role in the pathogenesis of DMD, leading to muscle cell damage and dysfunction.
JOURNAL OF NEUROLOGY
(2023)
Article
Clinical Neurology
Kate Maresh, Andriani Papageorgiou, Deborah Ridout, Neil A. Harrison, William Mandy, David Skuse, Francesco Muntoni
Summary: Duchenne muscular dystrophy (DMD) patients, in addition to muscle loss, also experience intellectual disability and neurobehavioral co-morbidities. This study shows that boys with DMD exhibit increased startle responses to threat, similar to a DMD mouse model, and these responses normalize with dystrophin restoration.
Review
Biochemistry & Molecular Biology
Ahlke Heydemann, Maria Siemionow
Summary: Despite the cloning of Dystrophin cDNA 35 years ago, there is still no effective treatment for patients with Duchenne Muscular Dystrophy (DMD) caused by a mutation in this gene. However, many novel therapies are currently in development and some have progressed to clinical trials.
Article
Multidisciplinary Sciences
Ziad Al Tanoury, John F. Zimmerman, Jyoti Rao, Daniel Sieiro, Harold M. McNamara, Thomas Cherrier, Alejandra Rodriguez-delaRosa, Aurore Hick-Colin, Fanny Bousson, Charlotte Fugier-Schmucker, Fabio Marchiano, Bianca Habermann, Jerome Chal, Alexander P. Nesmith, Svetlana Gapon, Erica Wagner, Vandana A. Gupta, Rhonda Bassel-Duby, Eric N. Olson, Adam E. Cohen, Kevin Kit Parker, Oliver Pourquie
Summary: This study introduces an in vitro human model to investigate the pathology of Duchenne muscular dystrophy (DMD) and test new therapeutic approaches. The researchers describe an optimized protocol for differentiating human induced pluripotent stem cells (iPSC) to a late myogenic stage, which allows them to replicate classic DMD phenotypes in isogenic DMD-mutant iPSC lines. Treatment with prednisolone significantly improves muscle function in DMD iPSC lines, challenging the prevailing view that its benefits are solely due to anti-inflammatory properties.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2021)
Review
Clinical Neurology
Patricia Soblechero-Martin, Andrea Lopez-Martinez, Laura de la Puente-Ovejero, Ainara Vallejo-Illarramendi, Virginia Arechavala-Gomeza
Summary: Utrophin is a paralogue of dystrophin that can be overexpressed in the absence of dystrophin and may act as a surrogate to compensate for its deficiency. Various strategies to overexpress utrophin are being investigated, with many compounds showing promising results in preclinical studies by modulating utrophin expression and ameliorating the disease phenotype in animal models.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2021)
Review
Behavioral Sciences
Amanda Ferrero, Marta Rossi
Summary: This article reviews the research on cognitive, behavioral and psychosocial functioning of BMD patients. It found that BMD patients commonly experience cognitive impairment and emotional/behavioral disorders, and the lack of specific proteins can lead to intellectual disability and other brain-related comorbidities.
NEUROSCIENCE AND BIOBEHAVIORAL REVIEWS
(2022)
Article
Endocrinology & Metabolism
Justin P. Hardee, Karen J. B. Martins, Paula M. Miotto, James G. Ryall, Stefan M. Gehrig, Boris Reljic, Timur Naim, Jin D. Chung, Jen Trieu, Kristy Swiderski, Ashleigh M. Philp, Andrew Philp, Matthew J. Watt, David A. Stroud, Rene Koopman, Gregory R. Steinberg, Gordon S. Lynch
Summary: The study demonstrates that low-frequency electrical stimulation can promote metabolic and mitochondrial remodeling in dystrophic muscles in mice, offering therapeutic potential for ameliorating dystrophic pathology and protecting against injury.
MOLECULAR METABOLISM
(2021)
Article
Geriatrics & Gerontology
Mary Chesshyre, Deborah Ridout, Yasumasa Hashimoto, Yoko Ookubo, Silvia Torelli, Kate Maresh, Valeria Ricotti, Lianne Abbott, Vandana Ayyar Gupta, Marion Main, Giulia Ferrari, Anna Kowala, Yung-Yao Lin, Francesco Saverio Tedesco, Mariacristina Scoto, Giovanni Baranello, Adnan Manzur, Yoshitsugu Aoki, Francesco Muntoni
Summary: This study highlights the importance of considering the expected effects of DMD mutations on dystrophin isoform production when evaluating motor impairments in DMD patients. Mutations that disrupt Dp140 and Dp71 are found to have a complex relationship with motor outcomes.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2022)
Article
Oncology
Nancy Alnassar, Malgorzata Borczyk, Georgia Tsagkogeorga, Michal Korostynski, Namshik Han, Dariusz C. Gorecki
Summary: Mutations in the DMD gene cause Duchenne muscular dystrophy (DMD), but recent research shows that reduced DMD expression is also associated with various malignancies. The downregulation of DMD in tumors is correlated with reduced patient survival and tumor stage. These findings challenge the current understanding of dystrophin expression and suggest a broader significance of the DMD gene beyond DMD.
Article
Cell Biology
Jerry R. Mendell, Perry B. Shieh, Craig M. McDonald, Zarife Sahenk, Kelly J. Lehman, Linda P. Lowes, Natalie F. Reash, Megan A. Iammarino, Lindsay N. Alfano, Brenna Sabo, Jeremy D. Woods, Christy L. Skura, Howard C. Mao, Loretta A. Staudt, Danielle A. Griffin, Sarah Lewis, Shufang Wang, Rachael A. Potter, Teji Singh, Louise R. Rodino-Klapac
Summary: Delandistrogene moxeparvovec (SRP-9001) is a gene transfer therapy that effectively improves SRP-9001 dystrophin expression and shows promising results in patients with Duchenne muscular dystrophy. However, differences in baseline motor function between different age groups may confound the evaluation of treatment effectiveness.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Clinical Neurology
Xiao-Fang Zhang, Yuan-Yuan Luo, Li Jiang, Si-Qi Hong
Summary: Our study investigated the intellectual function of Chinese patients with Duchenne muscular dystrophy (DMD) and analyzed the relationship between full-scale intelligence quotient (FSIQ) and various factors. We found that boys with DMD may have cognitive impairment, with the Working Memory Index being the most affected. There was no significant correlation between FSIQ and age, but there was a positive correlation between age and the Verbal Comprehension Index.
NEUROMUSCULAR DISORDERS
(2023)
Article
Rehabilitation
Riccardo Bravi, Christos I. Ioannou, Diego Minciacchi, Eckart Altenmueller
CLINICAL REHABILITATION
(2019)
Article
Multidisciplinary Sciences
Erez James Cohen, Kunlin Wei, Diego Minciacchi
SCIENTIFIC REPORTS
(2019)
Editorial Material
Neurosciences
Diego Minciacchi, David Rosenboom, Riccardo Bravi, Erez James Cohen
FRONTIERS IN NEUROSCIENCE
(2020)
Article
Neurosciences
Viola Benedetti, Gioele Gavazzi, Fabio Giovannelli, Riccardo Bravi, Fiorenza Giganti, Diego Minciacchi, Mario Mascalchi, Massimo Cincotta, Maria Pia Viggiano
Article
Neurosciences
Eros Quarta, Erez James Cohen, Riccardo Bravi, Diego Minciacchi
FRONTIERS IN SYSTEMS NEUROSCIENCE
(2020)
Article
Chemistry, Analytical
Riccardo Bravi, Stefano Caputo, Sara Jayousi, Alessio Martinelli, Lorenzo Biotti, Ilaria Nannini, Erez James Cohen, Eros Quarta, Stefano Grasso, Giacomo Lucchesi, Gabriele Righi, Giulio Del Popolo, Lorenzo Mucchi, Diego Minciacchi
Summary: This study evaluated the validity of using a customized wireless wearable sensor system for assessing shoulder ROM in CSCI patients in a clinical setting, and found essential information on its accuracy.
Article
Multidisciplinary Sciences
Erez James Cohen, Kunlin Wei, Diego Minciacchi
Summary: The formulation of strategies during a performance is crucial for motor control, with initial states having a significant impact and behavior remaining stable throughout the performance. By analyzing execution variables such as speed and duration, different strategy preferences among subjects were identified in a continuous task.
SCIENTIFIC REPORTS
(2021)
Article
Cell Biology
Alberto Granato, Adalberto Merighi
Summary: Pyramidal neurons are the most abundant cells in the neocortex and their dendrites play a crucial role in various neurological and mental disorders. Different types of intellectual disabilities may be sustained by different parts of the pyramidal neuron dendritic tree or by dysregulation of their interaction.
CELLULAR AND MOLECULAR NEUROBIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Adalberto Merighi, Nadia Gionchiglia, Alberto Granato, Laura Lossi
Summary: The gamma phosphorylated form of histone H2AX, known as gamma H2AX, was discovered over 40 years ago and has been found to play a crucial role in the cellular response to DNA damage. It is involved in various cellular functions in both normal and pathological cells. Particularly, its involvement in the central nervous system, from immature to mature neurons, highlights its importance in neurogenesis and neuronal cell death, showcasing its pleiotropic nature with diverse functions from embryonic life to old age.
Article
Environmental Sciences
Vincenzo Sorgente, Erez James Cohen, Riccardo Bravi, Diego Minciacchi
Summary: The study explores the correlation between gross and fine motor skills in children aged 6-11, finding that they both significantly improve with age. However, the intervention of gross motor training programs did not appear to have an influence on fine motor skills. Further research is needed to clarify the effect of gross motor practice on fine motor performances.
INTERNATIONAL JOURNAL OF ENVIRONMENTAL RESEARCH AND PUBLIC HEALTH
(2021)
Article
Psychology, Multidisciplinary
Riccardo Bravi, Gioele Gavazzi, Viola Benedetti, Fabio Giovannelli, Stefano Grasso, Giulia Panconi, Maria Pia Viggiano, Diego Minciacchi
Summary: This study investigated the effect of different sport environments on proactive and reactive inhibitory processes. Tennis players, swimmers, and non-athletes were compared in Go/No-Go and Stop Signal Task. The results showed that athletes performed better in reactive inhibitory control, while non-athletes performed relatively better in cued inhibitory tasks. Athletes exhibited a higher proportion of non-one-shot movements during inhibitory failures. The study also found a higher proportion of non-one-shot movements in cued inhibitory tasks.
FRONTIERS IN PSYCHOLOGY
(2022)
Article
Sport Sciences
Vincenzo Sorgente, Aaron Agudo-Ortega, Alejandro Lopez-Hernandez, Jesus Santos del Cerro, Diego Minciacchi, Jose Maria Gonzalez Rave
Summary: Evaluating force-velocity characteristics on dry-land is crucial in swimming as it can greatly impact in-water performance. This study aimed to identify differences in maximum force-velocity exertion based on swimmers' stroke and distance specialization. The results showed that sprinters had significantly higher force-velocity levels compared to long-distance swimmers, and breaststroke sprinters had the lowest force-velocity levels.
JOURNAL OF FUNCTIONAL MORPHOLOGY AND KINESIOLOGY
(2023)
Editorial Material
Sport Sciences
Vincenzo Sorgente, Diego Minciacchi
JOURNAL OF FUNCTIONAL MORPHOLOGY AND KINESIOLOGY
(2023)
Article
Multidisciplinary Sciences
Eros Quarta, Riccardo Bravi, Diego Minciacchi, Erez James Cohen
Summary: This article introduces a motion dataset from healthy human subjects performing fine motor control tasks on a graphic tablet, which could be used for assessing different aspects of fine motor control and testing machine learning algorithms.
Article
Psychology, Experimental
Erez J. Cohen, Riccardo Bravi, Diego Minciacchi
Summary: Assessing fine motor control through drawing and tracing tasks is an effective method for monitoring motor development in elementary school children. Research indicates that tracing performance significantly improves between second and third graders, while drawing ability only moderately increases. Attentional focus and cognitive development may be influencing factors for these developmental patterns.
PERCEPTUAL AND MOTOR SKILLS
(2021)
Article
Neurosciences
Yang He, Jun Tang, Meng Zhang, Junjie Ying, Dezhi Mu
Summary: This study investigated the protective effects and mechanisms of human placenta derived mesenchymal stem cells (hPMSCs) transplantation in a rat model of hypoxic-ischemic encephalopathy (HIE). The results showed that hPMSCs transplantation reduced apoptosis and improved long-term neurological prognosis. Furthermore, the downregulation of Sema 3A/NRP-1 expression and activation of the PI3K/Akt/mTOR signaling pathway played a key role in the protective effects of hPMSCs.
Article
Neurosciences
Emily L. Isenstein, Edward G. Freedman, Jiayi Xu, Ian A. DeAndrea-Lazarus, John J. Foxe
Summary: This study evaluated electrophysiological discrimination of parametric somatosensory stimuli in healthy young adults to understand how the brain processes the duration of tactile information. The results showed that participants did not electrophysiologically discriminate between 100 and 115 ms, but they exhibited distinct electrophysiological responses when the deviant stimuli were 130, 145, and 160 ms. These findings contribute to a better understanding of tactile sensitivity in different clinical conditions.
Article
Neurosciences
Juliana R. Souza, Ludmila Lima-Silveira, Daniela Accorsi-Mendonca, Benedito H. Machado
Summary: This study demonstrates that A2A receptors play a crucial role in modulating synaptic transmission in the NTS neurons and are required for the enhancement of glutamatergic transmission observed under short-term sustained hypoxia conditions.
Article
Neurosciences
Miki Hashizume, Rina Ito, Rie Suge, Yasushi Hojo, Gen Murakami, Takayuki Murakoshi
Summary: The basolateral amygdaloid complex (BLA) is closely involved in the formation of emotional memories, including both aversive memory and contextual fear memory. Acute sleep deprivation (SD) disrupts the acquisition of tone-associated fear memory in juvenile rats, but has no significant effect on contextual fear memory. Slow network oscillation in the amygdala contributes to the formation of amygdala-dependent fear memory in relation to sleep.
Article
Neurosciences
Qunxian Wang, Shipeng Guo, Dongjie Hu, Xiangjun Dong, Zijun Meng, Yanshuang Jiang, Zijuan Feng, Weihui Zhou, Weihong Song
Summary: GSDME plays a crucial role in the pathogenesis of Alzheimer's disease by regulating the switch from apoptosis to pyroptosis and participating in neuroinflammatory response. Knockdown of GSDME has been shown to improve cognitive impairments, indicating that GSDME could be a therapeutic target for Alzheimer's disease.
