Article
Biochemistry & Molecular Biology
Cecilia Simonini, Elisabetta Zucchi, Roberta Bedin, Ilaria Martinelli, Giulia Gianferrari, Nicola Fini, Gianni Soraru, Rocco Liguori, Veria Vacchiano, Jessica Mandrioli
Summary: The study found that CSF pNfH is significantly higher in classic and UMNp-ALS patients, and can differentiate them from UMN diseases with a better prognosis such as PLS and hSP. CSF pNfH independently predicted survival in UMN patients and classic/bulbar ALS, while in UMNp-ALS patients, the progression rate and presence of multifocal fasciculations were independent prognostic factors.
Article
Clinical Neurology
Wei Zhang, Jing Ma, Jiaying Shi, Shan Huang, Rongjuan Zhao, Xiaomin Pang, Juan Wang, Junhong Guo, Xueli Chang
Summary: The GGC repeat expansion in the 5' untranslated region of NOTCH2NLC gene is associated with a new phenotype of hereditary lower motor neuron syndrome. NOTCH2NLC genotyping should be performed to aid in the diagnosis of hereditary lower motor neuron syndromes.
JOURNAL OF NEUROLOGY
(2022)
Article
Biology
Arnault H. Caillet, Andrew T. M. Phillips, Dario Farina, Luca Modenese
Summary: The study focuses on deriving mathematical relationships between MN electrophysiological and anatomical properties by reprocessing data from 40 experimental studies in adult cat, rat, and mouse MN preparations. The validated mathematical framework provides a convenient tool for neuroscientists and experimenters. By using this framework, modelers can build profiles of inter-consistent MN-specific properties to scale pools of MN models, enhancing the accuracy and interpretability of simulations.
Review
Biochemistry & Molecular Biology
Joni Vanneste, Ludo van den Bosch
Summary: There is evidence suggesting that nucleocytoplasmic-transport deficits may be important in the pathogenesis of ALS, but current data are limited in clarifying the exact causal and temporal role. Understanding this will be significant for therapeutically targeting nucleocytoplasmic transport and associated proteins.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Biochemistry & Molecular Biology
Jing Zhao, Claire H. Stevens, Andrew W. Boyd, Lezanne Ooi, Perry F. Bartlett
Summary: Activation of EphA4 is involved in the pathogenesis of MND, and inhibiting EphA4 can improve functional outcomes. This review presents evidence that EphA4 signaling directly causes cell death in motor neurons, and discusses three likely mechanisms underlying this effect.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Clinical Neurology
Stefano Zoccolella, Alessandro Introna, Giammarco Milella, Antonella Mastronardi, Giovanni Iliceto, Eustachio D'Errico, Angela Fraddosio, Isabella Laura Simone
Summary: This study aimed to evaluate a cohort of LMNP patients and found that TMS abnormalities did not impact survival time but accelerated disease progression, leading to a faster progression to King's 4 stage.
JOURNAL OF THE NEUROLOGICAL SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Yu-Lung Lin, Jennifer Nhieu, Thomas Lerdall, Liming Milbauer, Chin-Wen Wei, Dong Jun Lee, Sang-Hyun Oh, Stanley Thayer, Li-Na Wei
Summary: This study presents a novel three-dimensional bilayer hydrogel tri-culture system that allows the formation of architecturally organized motor units (MUs) in vitro. The researchers successfully co-cultured three cell types of a MU, namely motor neuron (MN), myoblast, and Schwann cell, on a bilayer hydrogel matrix. The developed model exhibited key features of MUs, including organized MU structure, myelinated nerves, aligned myotubes innervated on clustered neuromuscular junctions (NMJs), MN-driven myotube contractions, and increases in cytosolic Ca2+ upon stimulation. This model provides a valuable tool for studying neuromuscular disorders and peripheral neuropathies, as well as for physiological and pharmacological research in tissue engineering.
CELL AND BIOSCIENCE
(2023)
Article
Clinical Neurology
Giammarco Milella, Stefano Zoccolella, Alessia Giugno, Marco Filardi, Daniele Urso, Salvatore Nigro, Benedetta Tafuri, Ludovica Tamburrino, Valentina Gnoni, Giancarlo Logroscino
Summary: This study found that spinal-onset ALS can be categorized into three groups based on the extent of upper motor neuron (UMN) and lower motor neuron (LMN) involvement. UMN burden is associated with higher diagnostic certainty and broader disease spread, while LMN involvement is associated with more severe disease and shorter survival.
JOURNAL OF NEUROLOGY
(2023)
Article
Neurosciences
Jackson Levine, Simon Avrillon, Dario Farina, Francois Hug, Jose L. Pons
Summary: Recent studies suggest that the nervous system generates movements by controlling groups of motor neurons that do not always align with muscle anatomy. This study aimed to determine whether these motor neuron synergies are consistent across tasks with different mechanical constraints. The results show that principal component analysis and cross-correlation can accurately identify common inputs and separate motor neurons that receive or do not receive these inputs.
JOURNAL OF PHYSIOLOGY-LONDON
(2023)
Article
Developmental Biology
Yupu Wang, Meike Lobb-Rabe, James Ashley, Purujit Chatterjee, Veera Anand, Hugo J. Bellen, Oguz Kanca, Robert A. Carrillo
Summary: This study investigates the expression patterns of Dpr and DIP genes in different types of neurons in Drosophila, revealing unique combinations of these cell-surface proteins and providing insights into neural development and synaptic connectivity.
Article
Genetics & Heredity
Marzieh Khani, Shahriar Nafissi, Hosein Shamshiri, Hamidreza Moazzeni, Hanieh Taheri, Elahe Elahi
Summary: This study identified a novel causative gene, RNF13, for recessively inherited ALS and found that its mutation affects protein homeostasis, contributing to the pathogenesis of neurodegeneration.
JOURNAL OF MEDICAL GENETICS
(2023)
Review
Biochemistry & Molecular Biology
Rachel James, Helena Chaytow, Leire M. Ledahawsky, Thomas H. Gillingwater
Summary: SMA is an autosomal recessive motor neuron disease caused by mutations in the SMN1 gene. The development of combinatorial therapies for SMA is necessary, with mitochondria being a relevant target for such therapies. Understanding mitochondrial dysfunction in SMA may lead to the development of targeted mitochondrial therapies with potential benefits for other motor neuron diseases and neurodegenerative disorders.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Article
Biochemistry & Molecular Biology
Cristina Pinto, Viviana Perez, Jessica Mella, Miguel Albistur, Teresa Caprile, Francisca C. Bronfman, Juan Pablo Henriquez
Summary: The study demonstrates that Wnt3 is transported and secreted by motor neurons to induce postsynaptic differentiation in nascent NMJs. Overexpression of Wnt3 in NSC-34 cells effectively induces acetylcholine receptor clustering on co-cultured myotubes.
Article
Biochemistry & Molecular Biology
Wei-Fang Chang, Min Peng, Jing Hsu, Jie Xu, Huan-Chieh Cho, Hsiu-Mei Hsieh-Li, Ji-Long Liu, Chung-Hao Lu, Li-Ying Sung
Summary: SMN is crucial for RNA spliceosome assembly and plays important roles in stem cell biology. Overexpression of SMN enhances the proliferation and potency of SSCs, positively influencing spermatogenesis.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Oncology
Mi Shen, Chun Zhou, Yingchao Tian, Tongxin Shang, Qingyun Liang, Mengru Ming, Fei Ding, Yuhua Ji
Summary: After peripheral nerve injury, the inaccurate reinnervation of the target leads to poor functional recovery. Schwann cells (SCs) express sensory and motor phenotypes associated with selective regeneration. Semaphorin 3A (Sema3A) plays an essential role in axon growth, and SC-secreted Sema3A might play a role in selective regeneration by a preferential effect on sensory neurons (SNs).
EXPERIMENTAL CELL RESEARCH
(2023)
Review
Cell Biology
Minkyung Kim, Brielle Bjorke, Grant S. Mastick
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2019)
Article
Neurosciences
Hannah N. Gruner, Minkyung Kim, Grant S. Mastick
Article
Developmental Biology
Minkyung Kim, Clare H. Lee, Sarah J. Barnum, Roland Cj Watson, Jennifer Li, Grant S. Mastick
DEVELOPMENTAL BIOLOGY
(2019)
Article
Biology
Mohamed Mahgoub, Jacob Paiano, Melania Bruno, Wei Wu, Sarath Pathuri, Xing Zhang, Sherry Ralls, Xiaodong Cheng, Andre Nussenzweig, Todd S. Macfarlan
Article
Biology
Gernot Wolf, Alberto de Iaco, Ming-An Sun, Melania Bruno, Matthew Tinkham, Don Hoang, Apratim Mitra, Sherry Ralls, Didier Trono, Todd S. Macfarlan
Article
Biochemistry & Molecular Biology
Bongmin Bae, Hannah N. Gruner, Maebh Lynch, Ting Feng, Kevin So, Daniel Oliver, Grant S. Mastick, Wei Yan, Simon Pieraut, Pedro Miura
Article
Developmental Biology
Riley Kellermeyer, Leah M. Heydman, Taylor Gillis, Grant S. Mastick, Minmin Song, Thomas Kidd
Article
Multidisciplinary Sciences
Tessa M. Bertozzi, Jessica L. Elmer, Todd S. Macfarlan, Anne C. Ferguson-Smith
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2020)
Article
Developmental Biology
Brielle Bjorke, Katherine G. Weller, Lauren E. Jones, G. Eric Robinson, Michelle Vesser, Lisheng Chen, Philip J. Gage, Thomas W. Gould, Grant S. Mastick
Summary: Muscle function relies on correct innervation by motor nerves, which pause and branch as they approach muscle targets. The study of the oculomotor nerve in mouse embryos found that Pitx2 function and Myf5-expressing cells play crucial roles in nerve growth pause and muscle precursor development, respectively.
DEVELOPMENTAL BIOLOGY
(2021)
Review
Genetics & Heredity
Anna D. Senft, Todd S. Macfarlan
Summary: Transposable elements (TEs) play a significant role in mammalian development and evolution by directly contributing genetic materials and indirectly affecting the evolution of TE repression systems such as KRAB-ZFPs. Despite the threats to genome stability, TEs actively shape mammalian-specific developmental processes and continue to impact mammalian development through ongoing co-evolution.
NATURE REVIEWS GENETICS
(2021)
Article
Biochemistry & Molecular Biology
Laura Sala, Manish Kumar, Mahendra Prajapat, Srividya Chandrasekhar, Rachel L. Cosby, Gaspare La Rocca, Todd S. Macfarlan, Parirokh Awasthi, Raj Chari, Michael Kruhlak, Joana A. Vidigal
Summary: AGO2 accumulates in the nucleus of quiescent cells and represses the expression of young retrotransposons by binding to them co-transcriptionally. This study reveals the nuclear function of AGO2 and its role as a genome-defense system in quiescence.
NATURE STRUCTURAL & MOLECULAR BIOLOGY
(2023)
Review
Developmental Biology
Riley Kellermeyer, Leah M. Heydman, Grant S. Mastick, Thomas Kidd
JOURNAL OF DEVELOPMENTAL BIOLOGY
(2018)
Article
Neurosciences
Wenzhu Wang, Zihan Li, Yitong Yan, Shuo Wu, Xinyu Yao, Chen Gao, Lanxiang Liu, Yan Yu
Summary: This study investigated the reparative mechanisms of low-intensity pulsed ultrasound (LIPUS) in traumatic brain injury (TBI) and found that LIPUS promotes hippocampal neurogenesis, enhances neural electrical activity and neural plasticity, ultimately restoring neuronal function and cognitive capabilities in TBI mice.
EXPERIMENTAL NEUROLOGY
(2024)
Article
Neurosciences
Wenmin Yi, Fei Chen, Minghao Yuan, Chuanling Wang, Shengyuan Wang, Jie Wen, Qian Zou, Yinshuang Pu, Zhiyou Cai
Summary: The study suggests that a high-fat diet may lead to tau hyperphosphorylation and synaptic dysfunction by inhibiting the SIRT1/AMPK pathway and disrupting autophagy flux, ultimately resulting in cognitive decline.
EXPERIMENTAL NEUROLOGY
(2024)
Article
Neurosciences
Kim M. Hemsley, Helen Beard, Glyn Chidlow, Teresa Mammone, Leanne K. Winner, Daniel Neumann, Barbara King, Marten F. Snel, Paul J. Trim, Robert J. Casson
Summary: Optical coherence tomography (OCT) is a non-invasive method that can be used to rapidly and quantitatively examine the integrity of the neuroretina. It has been shown that OCT can be used to observe retinal thinning in patients with childhood dementia, and to assess the improvement of retinal structure after treatment. Furthermore, OCT can provide insights into other childhood dementias based on the correlation between retinal and brain degeneration in Sanfilippo syndrome.
EXPERIMENTAL NEUROLOGY
(2024)
Article
Neurosciences
Qianling Jiang, Xin Ma, Gaochen Zhu, Wen Si, Lingyu He, Guan Yang
Summary: This study investigated the effects of EAE induction on thymopoiesis and T cell development, revealing changes such as increased apoptosis, decreased proliferation, and a blockade in the transition from double-negative thymocytes to double-positive cells. It was also found that positive selection was disrupted in the thymus of EAE mice, along with an increased production of regulatory T cells.
EXPERIMENTAL NEUROLOGY
(2024)
Article
Neurosciences
Alice McDouall, Guido Wassink, Sumudu Ranasinghe, Kelly Q. Zhou, Rashika N. Karunasinghe, Justin M. Dean, Joanne O. Davidson
Summary: This study found that blocking connexin 43 hemichannels can attenuate brain injury and promote neurodevelopment in infants with mild hypoxic-ischemic encephalopathy, without causing hypothermia.
EXPERIMENTAL NEUROLOGY
(2024)
Article
Neurosciences
Hannah Sweetman, Mahmudur Rahman, Aditya Vedantam, Kajana Satkunendrarajah
Summary: Degenerative cervical myelopathy (DCM) is a neurological condition characterized by chronic compression of the cervical spinal cord, leading to impaired limb function. While respiratory dysfunction is not a common symptom of DCM, it can affect the ventilatory response to respiratory challenges. Surgical decompression improves sensorimotor function in DCM, but its impact on respiratory function is unclear. This study evaluates respiratory function and adaptive ventilation in a DCM model, showing that DCM impairs acute adaptive ventilatory ability and surgical decompression does not fully restore it.
EXPERIMENTAL NEUROLOGY
(2024)
Article
Neurosciences
Chengmei Sun, Muhammad Saif Ur Rahman, Budbazar Enkhjargal, Jianhua Peng, Keren Zhou, Zhiyi Xie, Lingyun Wu, Tongyu Zhang, Qiquan Zhu, Jiping Tang, Yujia Zeng, John H. Zhang, Shanshan Xu
Summary: This study found that Osteopontin (OPN) can attenuate inflammatory responses after subarachnoid hemorrhage (SAH) by promoting an anti-inflammatory microglial state. This effect may be mediated through the integrin-FAK-STAT3 and NF-kappa B signaling pathways.
EXPERIMENTAL NEUROLOGY
(2024)
Article
Neurosciences
Yang Yang, Xuezhu Chen, Chuanyan Yang, Mei Liu, Qianying Huang, Likun Yang, Yuhai Wang, Hua Feng, Zhongyang Gao, Tunan Chen
Summary: The study explores the effects of specific chemogenetic stimulation of intact corticospinal tract on functional recovery after stroke in mice. The findings demonstrate that combining chemogenetic activation with rehabilitation training leads to significant motor functional recovery by promoting axon sprouting and rewiring new functional circuits.
EXPERIMENTAL NEUROLOGY
(2024)