Review
Immunology
Yizhang Mo, Kebing Chen
Summary: High mobility group box 1 (HMGB1) functions both as a nonhistone nucleoprotein and an extracellular inflammatory cytokine. It is mainly located in the nucleus in the resting state and regulates key nuclear activities. After spinal cord injury, HMGB1 is expressed by neurons, microglia, and ependymal cells and released into the extracellular matrix and blood circulation, contributing to the pathophysiological process of spinal cord injury. HMGB1 can regulate microglia activation, exacerbate inflammation, and result in neuronal death. However, it has also been shown to benefit neuron survival, regeneration, and motor function recovery. This article reviews the timing of HMGB1 secretion and translocation, release mechanisms, and its role in spinal cord injury, and identifies challenges to be addressed.
FRONTIERS IN IMMUNOLOGY
(2023)
Review
Clinical Neurology
Lintao Xu, Jingyu Wang, Yueming Ding, Linlin Wang, Yong-Jian Zhu
Summary: Microglia undergo activation, proliferation, and changes in gene and protein expression and morphology after traumatic spinal cord injury (SCI), leading to both detrimental and beneficial effects. Understanding and regulating microglial activation status is crucial for reducing harmful effects, promoting repair, and developing effective therapies for SCI.
FRONTIERS IN NEUROLOGY
(2022)
Review
Medicine, General & Internal
Hideaki Nakajima, Kazuya Honjoh, Shuji Watanabe, Ai Takahashi, Arisa Kubota, Akihiko Matsumine
Summary: The incidence of cervical spinal cord injury (CSCI) without major bone injury is increasing, particularly among older individuals with pre-existing cervical spinal canal stenosis. The demographics, neurological injury, treatment, and prognosis of this type of CSCI differ from those with bone or central cord injury. The optimal management of CSCI without major bone injury is a subject of debate among spine surgeons worldwide. This narrative review aims to address unresolved clinical questions and discuss treatment strategies based on current findings.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Neurosciences
Wu Jiang, Fan He, Guoming Ding, Junsong Wu
Summary: TPT reduces neuronal death and improves functional recovery after SCI, possibly through inhibition of caspase-1-dependent pyroptosis.
MOLECULAR NEUROBIOLOGY
(2022)
Article
Biotechnology & Applied Microbiology
Zhijie Zhu, Xin Li, Xuankang Wang, Xiaoshuang Zuo, Yangguang Ma, Xue Gao, Zhuowen Liang, Zhihao Zhang, Zhiwen Song, Tan Ding, Cheng Ju, Penghui Li, Kun Li, Jiawei Zhang, Huilin Quan, Zhe Wang, Xueyu Hu
Summary: The study demonstrates that Photobiomodulation (PBM) enhances the effectiveness of mitochondrial transplantation in treating spinal cord injury (SCI). PBM combined with mitochondrial transplantation increases ATP production, reduces oxidative stress and neuronal apoptosis levels, promoting tissue repair and motor function recovery.
BIOENGINEERING & TRANSLATIONAL MEDICINE
(2023)
Article
Neurosciences
Yuka Nakamura, Masaki Ueno, Jesse K. Niehaus, Richard A. Lang, Yi Zheng, Yutaka Yoshida
Summary: Deleting RhoA and RhoC genes to eliminate extrinsic inhibitory pathways, as well as deleting the PTEN gene to enhance intrinsic regenerative response, were found to promote neural circuit rewiring through a combinatorial approach. While this method increased the potential for rewiring, it did not significantly impact axon regrowth across the lesion and motor recovery.
JOURNAL OF NEUROSCIENCE
(2021)
Review
Pharmacology & Pharmacy
Arezou Zarepour, Ayca Bal Ozturk, Duygu Koyuncu Irmak, Gokcen Yasayan, Aylin Gokmen, Erdal Karaoz, Atefeh Zarepour, Ali Zarrabi, Ebrahim Mostafavi
Summary: Spinal cord injury (SCI) has a significant impact on patients' quality of life and is known as one of the most challenging diseases in the world. Different therapeutic strategies, including the use of stem cells and nanomaterials, show promising potential for SCI treatment.
EUROPEAN JOURNAL OF PHARMACEUTICS AND BIOPHARMACEUTICS
(2022)
Article
Immunology
Yuluo Rong, Chengyue Ji, Zhuanghui Wang, Xuhui Ge, Jiaxing Wang, Wu Ye, Pengyu Tang, Dongdong Jiang, Jin Fan, Guoyong Yin, Wei Liu, Weihua Cai
Summary: After spinal cord injury, astrocytes release CCL2 through sEVs, affecting microglia and neurons, leading to neuronal apoptosis and microglial activation. The activated microglia then release IL-1 beta, further exacerbating neuronal apoptosis.
JOURNAL OF NEUROINFLAMMATION
(2021)
Article
Neurosciences
Zachary T. Olmsted, Cinzia Stigliano, Brandon Marzullo, Jose Cibelli, Philip J. Horner, Janet L. Paluh
Summary: This study evaluates the survival and integration of hiPSC-derived spinal motor neurons and oligodendrocyte progenitor cells in a rat model, demonstrating successful transplantation and meeting functional electrophysiology parameters. The findings provide a streamlined and predictable approach for neural cell-based therapies of spinal cord injury.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2022)
Article
Neuroimaging
Simon Schading, Gergely David, Tim Max Emmenegger, Cristian Achim, Alan Thompson, Nikolaus Weiskopf, Armin Curt, Patrick Freund
Summary: This study tracks the spatiotemporal dynamics of remote anterograde and retrograde spinal tract degeneration in the upper cervical cord following SCI over two years utilizing quantitative MRI. The findings show ongoing structural changes, indicative of myelin reductions and atrophy within 2 years after SCI, providing potential biomarkers for regenerative and remyelinating therapies along entire spinal pathways.
NEUROIMAGE-CLINICAL
(2023)
Article
Biotechnology & Applied Microbiology
Wan-Kyu Ko, Seong Jun Kim, Gong Ho Han, Daye Lee, Dabin Jeong, Sang Jin Lee, In-Bo Han, Je Beom Hong, Seung Hun Sheen, Seil Sohn
Summary: This study investigates the recovery after traumatic spinal cord injury (SCI) by inducing cellular differentiation of transplanted neural stem cells (NSCs) into neurons. Results show that the use of a gel graft containing NSCs and positively charged gold nanoparticles (pGNP) promotes the differentiation of NSCs into neurons and reduces differentiation into astrocytes. Additionally, this treatment leads to increased regeneration of damaged axons and improved locomotor function. These findings suggest that embedding embryonic spinal cord-derived NSCs in a neuron-inducing pGNP gel graft can be an effective stem cell therapy for SCI.
BIOENGINEERING & TRANSLATIONAL MEDICINE
(2022)
Article
Pharmacology & Pharmacy
Zhijie Zhu, Xuankang Wang, Zhiwen Song, Xiaoshuang Zuo, Yangguang Ma, Zhihao Zhang, Cheng Ju, Zhuowen Liang, Kun Li, Xueyu Hu, Zhe Wang
Summary: This study found that PBM could promote the recovery of mitochondrial respiratory chain complex activity, increase ATP production, alleviate neuronal apoptosis, and reverse motor dysfunction after SCI in rats. The neuroprotective effects of PBM were mediated by activation of the AMPK/PGC-1 alpha/TFAM pathway to restore mitochondrial bioenergetics.
FRONTIERS IN PHARMACOLOGY
(2022)
Article
Neurosciences
Sajad Hassanzadeh, Mahsa Sabetvand, Reza Sardar, Roya Aryanpour, Zeinab Namjoo
Summary: The study investigates the impact of 17 beta-estradiol (E2) on mitochondrial alterations in motor neurons induced by spinal cord injury in rats. The results suggest that E2 treatment can improve mitochondria structural integrity and reduce irregular mitochondrial features in motor neurons.
MOLECULAR NEUROBIOLOGY
(2023)
Article
Medicine, Research & Experimental
Zijian Tan, Shangyao Qin, Yimin Yuan, Xin Hu, Xiao Huang, Hong Liu, Yingyan Pu, Cheng He, Zhida Su
Summary: The study identifies NOTCH1 as a key signaling pathway in reactive astrocytes that regulates the conversion of astrocytes into neurons. Inhibition of NOTCH1 signaling can reprogram astrocytes into neurons, suggesting a potential clinical approach for neuroregeneration.
Article
Biochemistry & Molecular Biology
Ning Wang, Hai Yu, Qian Song, Ping Mao, Kuo Li, Gang Bao
Summary: The study developed and characterized SM@SA-CS nanomicelles, showing potential therapeutic effects in oxidative stress in neural cells.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2021)
Article
Clinical Neurology
Amira Masri, Mohammad Shboul, Aisha Khasawneh, Rama Jadallah, Asma ALmustafa, Nathalie Escande-Beillard, Hanan Hamamy, Faris Bakri, Bruno Reversade
CLINICAL NEUROLOGY AND NEUROSURGERY
(2020)
Article
Genetics & Heredity
Margaux Serey-Gaut, Marcello Scala, Bruno Reversade, Lyse Ruaud, Christelle Cabrol, Francesco Musacchia, Annalaura Torella, Andrea Accogli, Nathalie Escande-Beillard, Jean Langlais, Gianluca Piatelli, Alessandro Consales, Vincenzo Nigro, Valeria Capra, Lionel Van Maldergem
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2020)
Article
Neurosciences
Nathalie Escande-Beillard, Abigail Loh, Sahar N. Saleem, Kohei Kanata, Yui Hashimoto, Umut Altunoglu, Artina Metoska, Joanes Grandjean, Fui Mee Ng, Oz Pomp, Nithya Baburajendran, Joyner Wong, Jeffrey Hill, Emmanuel Beillard, Patrick Cozzone, Maha Zaki, Hulya Kayserili, Hiroshi Hamada, Hidetaka Shiratori, Bruno Reversade
Article
Pediatrics
Neha S. Bhatia, Jiin Ying Lim, Carine Bonnard, Jyn-Ling Kuan, Maggie Brett, Heming Wei, Breana Cham, Huilin Chin, Celia Bosso-Lefevre, Perumal Dharuman, Nathalie Escande-Beillard, Arun George Devasia, Chew Yin Jasmine Goh, Sylvia Kam, Wendy Kein-Meng Liew, Woei Kang Liew, Grace Lin, Kanika Jain, Alvin Yu-Jin Ng, Deepa Subramanian, Min Xie, Yuen-Ming Tan, Nilesh R. Tawari, Zenia Tiang, Teck Wah Ting, Sumanty Tohari, Cheuk Ka Tong, Alexander Lezhava, Sarah B. Ng, Hai Yang Law, Byrappa Venkatesh, Swati Tomar, Raman Sethi, Grace Tan, Arthi Shanmugasundaram, Denise Li-Meng Goh, Poh San Lai, Angeline Lai, Ee Shien Tan, Ivy Ng, Bruno Reversades, Ene Choo Tan, Roger Foo, Saumya Shekhar Jamuar
Summary: Using NGS technology, particularly WES or WGS, can improve diagnostic yield in patients with suspected genetic disorders in the Asian setting. Trio sequencing shows higher diagnostic yield for certain phenotypes, and positive results can lead to changes in patient treatment.
ARCHIVES OF DISEASE IN CHILDHOOD
(2021)
Article
Biochemistry & Molecular Biology
Jide Tian, Blake Middleton, Victoria Seunghee Lee, Hye Won Park, Zhixuan Zhang, Bokyoung Kim, Catherine Lowe, Nancy Nguyen, Haoyuan Liu, Ryan S. Beyer, Hannah W. Chao, Ryan Chen, Davis Mai, Karen Anne O'Laco, Min Song, Daniel L. Kaufman
Summary: The expression of gamma-aminobutyric acid receptors in immune cells may have therapeutic potential in diseases like T1D, multiple sclerosis, rheumatoid arthritis, and COVID-19. Specific modulation of GABA(B)-Rs with agonists like lesogaberan shows promise in restoring normoglycemia and improving T1D remission rates in mouse models. The analysis of gene expression databases suggests a common feature of GABA receptors and production/secretion-related genes in immune cells.
Article
Multidisciplinary Sciences
Jide Tian, Min Song, Daniel L. Kaufman
Summary: Current disease-modifying drugs have limited efficacy in preventing disability progression in most multiple sclerosis patients, highlighting the need for new treatments. Research indicates that treatment with a BBB-permeable GABA(A)-R-specific agonist, homotaurine, can limit epitope spreading within the CNS, potentially offering therapeutic benefits for MS and other inflammatory disorders.
SCIENTIFIC REPORTS
(2021)
Article
Virology
Jide Tian, Blake Middleton, Daniel L. Kaufman
Summary: The study found that GABA-R agonists have positive effects in limiting coronavirus infections, especially mediated through GABA(A)-Rs. GABA and homotaurine are safe for human consumption, making them promising candidates for the treatment of coronavirus infections.
Article
Genetics & Heredity
Umut Altunoglu, Esra Borklu, Anju Shukla, Nathalie Escande-Beillard, Susanne Ledig, Hulya Azakli, Shalini S. Nayak, Serpil Eraslan, Katta Mohan Girisha, Ingo Kennerknecht, Hulya Kayserili
Summary: Homozygous variants in PPP2R3C gene can cause a syndromic 46,XY complete gonadal dysgenesis phenotype, while heterozygous variants may lead to reduced fertility in males. The study described patients from Turkish and Indian descent, including both 46,XX and 46,XY affected individuals displaying various external genital phenotypes.
Correction
Genetics & Heredity
Bruno Reversade, Nathalie Escande-Beillard, Aikaterini Dimopoulou, Bjorn Fischer, Serene C. Chng, Yun Li, Mohammad Shboul, Puay-Yoke Tham, Hulya Kayserili, Lihadh Al-Gazali, Monzer Shahwan, Francesco Brancati, Hane Lee, Brian D. O'Connor, Mareen Schmidt-von Kegler, Barry Merriman, Stanley F. Nelson, Amira Masri, Fawaz Alkazaleh, Deanna Guerra, Paola Ferrari, Arti Nanda, Anna Rajab, David Markie, Mary Gray, John Nelson, Arthur Grix, Annemarie Sommer, Ravi Savarirayan, Andreas R. Janecke, Elisabeth Steichen, David Sillence, Ingrid Hausser, Birgit Budde, Gudrun Nurnberg, Peter Nurnberg, Petra Seemann, Desiree Kunkel, Giovanna Zambruno, Bruno Dallapiccola, Markus Schuelke, Stephen Robertson, Hanan Hamamy, Bernd Wollnik, Lionel Van Maldergem, Stefan Mundlos, Uwe Kornak
Article
Genetics & Heredity
Abigail Y. T. Loh, Sanja Spoljar, Granville Y. W. Neo, Nathalie Escande-Beillard, Marc Leushacke, Monique N. H. Luijten, Byrappa Venkatesh, Carine Bonnard, Maurice A. M. van Steensel, Henning Hamm, Andrew Carmichael, Neil Rajan, Thomas J. Carney, Bruno Reversade
Summary: Huriez syndrome is a rare genetic skin disorder characterized by scleroatrophic hands and feet, hypoplastic nails, palmoplantar keratoderma, and a predisposition to cutaneous squamous cell carcinoma. This study reported three HRZ families from different regions and identified germline SMARCAD1 pathogenic variants. The findings suggest that Huriez syndrome may be allelic to Adermatoglyphia and Basan syndrome, sharing similar genetic and phenotypic features.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2022)
Article
Developmental Biology
Hyuk Nam Kwon, Kristen Kurtzeborn, Vladislav Iaroshenko, Xing Jin, Abigail Loh, Nathalie Escande-Beillard, Bruno Reversade, Sunghyouk Park, Satu Kuure
Summary: Nephron endowment plays a crucial role in adult renal health, and defects in the molecular regulation of nephron progenitors can lead to reduced nephron mass. This study characterized the metabolic consequences of MAPK/ERK deficiency and identified pyruvate and proline as important factors in nephron progenitor maintenance.
Article
Multidisciplinary Sciences
Lauren G. Mascibroda, Mohammad Shboul, Nathan D. Elrod, Laurence Colleaux, Hanan Hamamy, Kai-Lieh Huang, Natoya Peart, Moirangthem Kiran Singh, Hane Lee, Barry Merriman, Jeanne N. Jodoin, Poojitha Sitaram, Laura A. Lee, Raja Fathalla, Baeth Al-Rawashdeh, Osama Ababneh, Mohammad El-Khateeb, Nathalie Escande-Beillard, Stanley F. Nelson, Yixuan Wu, Liang Tong, Linda J. Kenney, Sudipto Roy, William K. Russell, Jeanne Amiel, Bruno Reversade, Eric J. Wagner
Summary: Oral-facial-digital (OFD) syndromes are a group of congenital disorders characterized by face and oral cavity malformations, and digit anomalies. Mutations in the INTS13 gene have been found to cause OFD type 2, disrupting ciliogenesis and gene expression.
NATURE COMMUNICATIONS
(2022)
Article
Medicine, Research & Experimental
Nasrinsadat Nabavizadeh, Annkatrin Bressin, Mohammad Shboul, Ricardo Moreno Traspas, Poh Hui Chia, Carine Bonnard, Emmanuelle Szenker-Ravi, Burak Saribas, Emmanuel Beillard, Umut Altunoglu, Zohreh Hojati, Scott Drutman, Susanne Freier, Mohammad El-Khateeb, Rajaa Fathallah, Jean-Laurent Casanova, Wesam Soror, Alaa Arafat, Nathalie Escande-Beillard, Andreas Mayer, Bruno Reversade
Summary: Exome sequencing has revolutionized the identification of germline variations responsible for Mendelian diseases, but it cannot capture non-coding regions. This study demonstrates how RNA-seq can complement exome sequencing by identifying a deep intronic mutation in a gene associated with Osteogenesis Imperfecta and neonatal progeria syndrome. The mutation alters pre-mRNA processing and leads to exon skipping, revealing the importance of transcriptomic approaches in understanding the molecular mechanisms of human diseases.
EMBO MOLECULAR MEDICINE
(2023)
Article
Medicine, Research & Experimental
Samantha Wong, Yu Xuan Tan, Abigail Yi Ting Loh, Kiat Yi Tan, Hane Lee, Zainab Aziz, Stanley F. Nelson, Engin Ozkan, Hülya Kayserili, Nathalie Escande-Beillard, Bruno Reversade
Summary: A new lethal syndrome caused by a genetic defect in the proto-oncogene RAF1 is discovered, highlighting the importance of RTK signaling for human development and homeostasis.
EMBO MOLECULAR MEDICINE
(2023)
Meeting Abstract
Biochemistry & Molecular Biology
Marwan Nashabat, Sahin Avci, Esra Borklu-Yucel, Hilal Piril Saracoglu, Piraye Oflazer, Nathalie Escande-Beillard, Hulya Kayserili
EUROPEAN JOURNAL OF HUMAN GENETICS
(2022)