Article
Biochemistry & Molecular Biology
Gang Li, Shijie Xu, Ung Gu Kang
Summary: Repeated administration of drugs of abuse leads to behavioral sensitization, which is also observed with MK-801, a NMDA receptor antagonist. This study investigated the characteristics of MK-801-induced behavioral sensitization and found that it occurred rapidly with only five consecutive treatments. The optimal dose for sensitization was identified, which corresponded to typical doses of abused NMDA antagonists. Changes were observed in the expression and phosphorylation of NMDA receptor subunits after MK-801-induced behavioral sensitization.
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS
(2023)
Article
Clinical Neurology
Laura E. Habets, Bart Bartels, Janke F. de Groot, W. Ludo van der Pol, Jeroen A. L. Jeneson, Fay-Lynn Asselman, Ruben P. A. van Eijk, Dick F. Stegeman
Summary: The study investigated motor unit reserve capacity in SMA patients during submaximal performance intensities in endurance shuttle tests. The findings showed decreased median frequencies and increased amplitudes in patients, indicating potential therapeutic targets for reducing fatigability in individual SMA patients. Differences in sEMG responses were observed between patients and healthy controls during endurance testing.
CLINICAL NEUROPHYSIOLOGY
(2021)
Article
Clinical Neurology
Christian Schneider, Meike K. Wassermann, Nicolai B. Grether, Gereon R. Fink, Gilbert Wunderlich, Helmar C. Lehmann
Summary: The study evaluated the organization and short-term changes of motor units in adult patients with spinal muscular atrophy (SMA) treated with nusinersen, finding significantly lower motor unit numbers in patients with SMA and a moderate to strong correlation between electrophysiological measures and clinical scores.
EUROPEAN JOURNAL OF NEUROLOGY
(2021)
Article
Clinical Neurology
Andrea Barp, Elena Carraro, Francesca Salmin, Andrea Lizio, Marta Cheli, Valeria Sansone
Summary: This study explored facial nerve response, MUNIX, and MUSIX in patients with spinal muscular atrophy (SMA) and compared them with healthy control subjects. The results showed that CMAP of the facial nerve and MUNIX of the orbicularis oculi muscle had high accuracy in discriminating between different subtypes of SMA and quantifying motor unit loss of the facial nerve.
Article
Clinical Neurology
Astrid Pechmann, Max Behrens, Katharina Doernbrack, Adrian Tassoni, Sabine Stein, Sibylle Vogt, Daniela Zoeller, Gunther Bernert, Tim Hagenacker, Ulrike Schara-Schmidt, Inge Schwersenz, Maggie C. Walter, Matthias Baumann, Manuela Baumgartner, Marcus Deschauer, Astrid Eisenkoelbl, Marina Flotats-Bastardas, Andreas Hahn, Veronka Horber, Ralf A. Husain, Sabine Illsinger, Jessika Johannsen, Cornelia Koehler, Heike Koelbel, Monika Mueller, Arpad von Moers, Kurt Schlachter, Gudrun Schreiber, Oliver Schwartz, Martin Smitka, Elisabeth Steiner, Eva Stoegmann, Regina Trollmann, Katharina Vill, Claudia Weiss, Gert Wiegand, Andreas Ziegler, Hanns Lochmueller, Janbernd Kirschner
Summary: This study presents real-world evidence on the effects of nusinersen treatment in patients with early-onset spinal muscular atrophy. The findings demonstrate significant improvements in motor function, particularly in children under the age of 2. However, the improvements in bulbar and respiratory function are not equivalent to those in motor function.
Article
Clinical Neurology
Laura E. Habets, Bart Bartels, Fay-Lynn Asselman, Melissa T. Hooijmans, Sandra van den Berg, Aart J. Nederveen, W. Ludo van der Pol, Jeroen A. L. Jeneson
Summary: This study provides clinical evidence of abnormal muscle bioenergetics in patients with hereditary proximal spinal muscular atrophy, suggesting a potential role of mitochondrial dysfunction in the disease pathogenesis. The study also highlights the contribution of degeneration and atrophy of motor neurons and associated musculature, as well as the depletion of specific myofiber types, to muscle weakness in this cohort. These findings contribute to a better understanding of the underlying mechanisms of the disease and provide potential new biomarkers and targets for therapy.
Article
Neurosciences
Wenjuan Yu, Hongwei Fang, Lei Zhang, Miaowen Hu, Sidi He, Huafang Li, Hao Zhu
Summary: Treatment with MK-801 enhances proliferation of hippocampal astrocytes and upregulates BDNF mRNA expression. The NMDA, PI3K, and ERK1/2 signaling pathways may be involved in regulating MK-801-induced BDNF upregulation. These findings suggest that astrocytes may play a role in the acute neurological and behavioral response to MK-801 treatment.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Article
Clinical Neurology
Francini Franscescon, Thiele P. Souza, Talise E. Muller, Paula Michelotti, Julia Canzian, Flavia Stefanello, Denis B. Rosemberg
Summary: Schizophrenia is a chronic neuropsychiatric disorder characterized by a shortened lifespan and impaired social and vocational functioning, often involving dysfunctions in the hypothalamic-pituitary-adrenal axis and cortisol regulation. Taurine, with its neuroprotective properties, shows promise in targeting various brain disorders, including schizophrenia, by modulating behaviors and neuroendocrine responses. The study on zebrafish models suggests that taurine can have a protective effect on behaviors and neuroendocrine responses associated with MK-801-induced schizophrenia-like phenotypes.
PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY
(2021)
Review
Neurosciences
Giulietta M. M. Riboldi, Irene Faravelli, Paola Rinchetti, Francesco Lotti
Summary: Since its identification as the gene responsible for SMA, the functions of the SMN protein have expanded to include roles in RNA processing pathways, mRNA trafficking and translation, axonal transport, endocytosis, and mitochondria metabolism. The SMN complex's activities are regulated by various processes, with post-translational modifications (PTMs) emerging as important regulators. PTMs, such as phosphorylation, methylation, ubiquitination, acetylation, and sumoylation, modulate the pleiotropic functions of the SMN complex. This overview focuses on the PTMs involved in regulating the SMN complex and their implications in SMA pathogenesis.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2023)
Article
Clinical Neurology
P. V. S. Souza, W. B. V. R. Pinto, A. Ricarte, B. M. L. Badia, D. D. Seneor, D. T. Teixeira, L. Caetano, E. A. Goncalves, M. A. T. Chieia, I. B. Farias, E. Bertini, A. S. B. Oliveira
Summary: This study identified a cohort of 20 patients with SMA type 4 in a Brazilian cohort of 227 SMA patients. The most common clinical symptom was limb-girdle muscle weakness, with absent tendon reflexes in 90% of patients and fasciculations in 45% of patients. The majority of patients (80%) had the homozygous deletion of exon 7 in the SMN1 gene, with 60% of them showing four copies of the SMN2 gene.
EUROPEAN JOURNAL OF NEUROLOGY
(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.
Article
Clinical Neurology
Dongwoo Yu, Seul Ah Mun, Sang Woo Kim, Dae-Chul Cho, Chi Heon Kim, Inbo Han, Subum Lee, Sang -Woo Lee, Kyoung-Tae Kim
Summary: D-serine exacerbates neuropathic pain after traumatic spinal cord injury by mediating the NMDA receptor. NMDA receptor antagonists alleviate neuropathic pain after traumatic spinal cord injury.
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
Geriatrics & Gerontology
Tomoki Hirunagi, Hideaki Nakatsuji, Kentaro Sahashi, Mikiyasu Yamamoto, Madoka Iida, Genki Tohnai, Naohide Kondo, Shinichiro Yamada, Ayuka Murakami, Seiya Noda, Hiroaki Adachi, Gen Sobue, Masahisa Katsuno
Summary: This study found that exercise has therapeutic potential in a mouse model of SBMA, improving motor function and survival and ameliorating neuronal and muscular histopathology. Exercise exerts its effect by activating the AMPK signaling pathway and suppressing the accumulation of polyQ-expanded AR protein in skeletal muscles and motor neurons.
JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE
(2023)
Article
Multidisciplinary Sciences
Marina Boido, Iacopo Gesmundo, Anna Caretto, Francesca Pedrolli, Roberta Schellino, Sheila Leone, Renzhi Cai, Wei Sha, Ezio Ghigo, Andrew V. Schally, Alessandro Vercelli, Riccarda Granata
Summary: The study shows that MR-409 has protective effects on SMN Delta 7 mice, indicating its potential as a promising drug for the treatment of SMA.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2023)
Article
Multidisciplinary Sciences
Ghjuvan Ghjacumu Shackleford, Nirmal Kumar Sampathkumar, Mehdi Hichor, Laure Weill, Delphine Meffre, Ludmila Juricek, Ingrid Laurendeau, Aline Chevallier, Nicolas Ortonne, Frederique Larousserie, Marc Herbin, Ivan Bieche, Xavier Coumoul, Mathieu Beraneck, Etienne-Emile Baulieu, Frederic Charbonnier, Eric Pasmant, Charbel Massaad
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2018)
Article
Multidisciplinary Sciences
Delphine Sapaly, Matthieu Dos Santos, Perrine Delers, Olivier Biondi, Gwendoline Querol, Leo Houdebine, Kevinee Khoobarry, Francois Girardet, Philippe Burlet, Anne-Sophie Armand, Christophe Chanoine, Jean-Francois Bureau, Frederic Charbonnier, Suzie Lefebvre
SCIENTIFIC REPORTS
(2018)
Article
Developmental Biology
Bruno Della Gaspera, Albert Chesneau, Laure Weill, Frederic Charbonnier, Christophe Chanoine
DEVELOPMENTAL BIOLOGY
(2018)
Article
Developmental Biology
Bruno Della Gaspera, Alice Mateus, Yannick Andeol, Laure Weill, Frederic Charbonnier, Christophe Chanoine
DEVELOPMENTAL BIOLOGY
(2019)
Article
Medicine, Research & Experimental
Takuo Hirose, Alfredo Cabrera-Socorro, David Chitayat, Thomas Lemonnier, Olivier Feraud, Carmen Cifuentes-Diaz, Nicolas Gervasi, Cedric Mombereau, Tanay Ghosh, Loredana Stoica, Jeanne d'Arc Al Bacha, Hiroshi Yamada, Marcel A. Lauterbach, Marc Guillon, Kiriko Kaneko, Joy W. Norris, Komudi Siriwardena, Susan Blaser, Jeremie Teillon, Roberto Mendoza-Londono, Marion Russeau, Julien Hadoux, Sadayoshi Ito, Pierre Corvol, Maria G. Matheus, Kenton R. Holden, Kohji Takei, Valentina Emiliani, Annelise Bennaceur-Griscelli, Charles E. Schwartz, Genevieve Nguyen, Matthias Groszer
JOURNAL OF CLINICAL INVESTIGATION
(2019)
Article
Neurosciences
Laia Just-Borras, Erica Hurtado, Victor Cilleros-Mane, Olivier Biondi, Frederic Charbonnier, Marta Tomas, Neus Garcia, Maria A. Lanuza, Josep Tomas
MOLECULAR NEUROBIOLOGY
(2019)
Article
Physiology
Leeo Houdebine, Domenico D'Amico, Jean Bastin, Farah Chali, Celine Desseille, Valentin Rumeau, Judy Soukkari, Carole Oudot, Thais Rouquet, Bruno Bariohay, Julien Roux, Delphine Sapaly, Laure Weill, Philippe Lopes, Fatima Djouadi, Cynthia Bezier, Frederic Charbonnier, Olivier Biondi
FRONTIERS IN PHYSIOLOGY
(2019)
Article
Biochemistry & Molecular Biology
Laia Just-Borras, Erica Hurtado, Victor Cilleros-Mane, Olivier Biondi, Frederic Charbonnier, Marta Tomas, Neus Garcia, Josep Tomas, Maria A. Lanuza
CELLULAR AND MOLECULAR LIFE SCIENCES
(2020)
Article
Biochemistry & Molecular Biology
Laia Just-Borras, Victor Cilleros-Mane, Erica Hurtado, Olivier Biondi, Frederic Charbonnier, Marta Tomas, Neus Garcia, Josep Tomas, Maria A. Lanuza
Summary: Physical exercise improves motor control, cognitive abilities, and neuroprotection in the nervous system. Studies show that exercise can induce molecular adaptations in muscles, transitioning them towards a slower, more resistant phenotype.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Cell Biology
Bruno Della Gaspera, Laure Weill, Christophe Chanoine
Summary: This article summarizes the literature on somite compartmentalization and proposes a model for the evolutionary history of somite compartmentalization. The study suggests that somites in vertebrates have evolved through two major transitions, involving changes in the cell potency of somitic cells and the formation of different vertebrate compartments.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Clinical Neurology
Domenico D'Amico, Olivier Biondi, Camille Januel, Cynthia Bezier, Delphine Sapaly, Zoe Clerc, Mirella El Khoury, Venkat Krishnan Sundaram, Leo Houdebine, Thibaut Josse, Bruno Della Gaspera, Cecile Martinat, Charbel Massaad, Laure Weill, Frederic Charbonnier
Summary: This study reveals that the IRE1 alpha/XBP1 branch of the unfolded protein response is disrupted in spinal muscular atrophy (SMA), with a depletion of XBP1s contributing to SMA pathogenesis. Rebalancing XBP1s expression can induce SMN expression and protect spinal motor neurons in severe SMA-like mice.
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
(2022)