Article
Cell Biology
Kanta Yamazoe, Yoshihiro H. Inoue
Summary: The Cdk1-CycB complex is crucial for cell-cycle regulation. Import and export processes are important for the localization and activation of Cdk1. Interaction between Cdc25C and Cdk-activating kinase with Cdk1 in the nucleus is necessary for centrosome separation.
Review
Genetics & Heredity
Aadil Yousuf, Nadeem Ahmed, Abrar Qurashi
Summary: Fragile X-associated tremor/ataxia syndrome (FXTAS) and fragile X syndrome (FXS) are distinct disorders caused by abnormal expansion of CGG repeats. FXTAS is a neurodegenerative disorder characterized by gene hyperexpression, while FXS is a neurodevelopmental disorder characterized by gene silencing. Non-canonical DNA and RNA structures formed from CGG repeat expansions can disrupt cellular processes and have different effects in these two disorders.
FRONTIERS IN GENETICS
(2022)
Article
Neurosciences
Kaleb Dee Miles, Caleb Andrew Doll
Summary: Developmental changes in ionic balance play a crucial role in neural circuit formation. The shift of GABAergic neurotransmission from depolarizing to hyperpolarizing output is induced by changes in Cl- gradients and is delayed in Fragile X syndrome (FXS) models. The absence of FMRP protein, which regulates chloride transporter expression, can significantly impact FXS phenotypes. This perspective summarizes the expression of Cl- transporters and discusses the imbalances in inhibitory neurotransmission in FXS, highlighting potential therapeutic strategies.
FRONTIERS IN NEUROSCIENCE
(2022)
Review
Cell Biology
Rob Willemsen, R. Frank Kooy
Summary: Fragile X-related disorders are caused by expanded CGG repeats in the FMR1 gene and can manifest as either neurodegenerative or neurodevelopmental disorders. Mouse models have provided valuable insights into these disorders and their translational value for developing targeted therapies for intellectual disability and autism disorders.
DISEASE MODELS & MECHANISMS
(2023)
Review
Cell Biology
Chunzhu Song, Kendal Broadie
Summary: Drosophila models of neurological disease, particularly the FXS model, have greatly contributed to our understanding of the pathogenic mechanisms and neurological phenotypes of fragile X syndrome, and have provided potential therapeutic targets.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Multidisciplinary Sciences
Ha Eun Kong, Junghwa Lim, Alexander Linsalata, Yunhee Kang, Indranil Malik, Emily G. Allen, Yiqu Cao, Lisa Shubeck, Rich Johnston, Yanting Huang, Yanghong Gu, Xiangxue Guo, Michael E. Zwick, Zhaohui Qin, Thomas S. Wingo, Jorge Juncos, David L. Nelson, Michael P. Epstein, David J. Cutler, Peter K. Todd, Stephanie L. Sherman, Stephen T. Warren, Peng Jin
Summary: This study identified Prosbeta5 (PSMB5) as a candidate genetic modifier for FXTAS using a Drosophila model. Knockdown of PSMB5 suppressed CGG-associated neurodegeneration in flies and cells. Additionally, an expression quantitative trait locus variant in PSMB5 was associated with delayed onset of FXTAS in human carriers. These findings suggest a therapeutic strategy for FXTAS by targeting PSMB5.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2022)
Article
Neurosciences
Nicole K. Morrill, Aurelie Joly-Amado, Qingyou Li, Sahana Prabhudeva, Edwin J. Weeber, Kevin R. Nash
Summary: This study found that the reduction in Reelin may be related to FXS, and enhancing the Reelin signaling successfully rescued cognitive deficits in FXS mice, providing a feasible therapeutic approach.
EXPERIMENTAL NEUROLOGY
(2022)
Article
Neurosciences
Se Jin Jeon, Huiyoung Kwon, Ho Jung Bae, Edson Luck Gonzales, Junhyeong Kim, Hye Jin Chung, Dong Hyun Kim, Jong Hoon Ryu, Chan Young Shin
Summary: This study found that agmatine can reverse FXS symptoms in Fmr1 KO mouse model, including compulsions, learning and memory deficits, hyperactivity, aberrant social interaction, and communication deficit, while normalizing abnormal long-term potentiation and depression in the hippocampus.
Article
Genetics & Heredity
Maria Dolores De Donno, Antonietta Puricella, Simona D'Attis, Valeria Specchia, Maria Pia Bozzetti
Summary: Fragile X syndrome is a neuro-developmental disease that affects intellectual abilities and social interactions. The fruit fly, Drosophila melanogaster, is a reliable model to study the neuronal pathways associated with this syndrome. It has been found that the FMRP protein is crucial for the normal structure of neurons, correct synaptic differentiation, and synaptic connectivity during neuronal circuit development. This study demonstrates that FMRP is also required for transposon silencing in the brains of Drosophila mutants, suggesting a potential role of transposons in the pathogenesis of Fragile X syndrome and abnormal social behaviors.
Review
Clinical Neurology
Ramkumar Aishworiya, Dragana Protic, Randi Hagerman
Summary: There is increasing recognition of the heterogeneity of origin of cases of autism spectrum disorder (ASD), with genetic etiology identified in 20-40% of cases. The Fragile X premutation state is a newly discovered disease state associated with various disorders, including ASD, and understanding molecular mechanisms may facilitate targeted treatments in the future.
JOURNAL OF NEUROLOGY
(2022)
Review
Neurosciences
Snow Bach, Stephen Shovlin, Michael Moriarty, Barbara Bardoni, Daniela Tropea
Summary: RTT and FXS are two monogenetic neurodevelopmental disorders with overlapping features possibly due to interactions between MeCP2 and FMRP. Both syndromes affect brain development and result in dysregulation of common molecular signaling pathways.
FRONTIERS IN CELLULAR NEUROSCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Lital Gildin, Rossana Rauti, Ofir Vardi, Liron Kuznitsov-Yanovsky, Ben M. Maoz, Menahem Segal, Dalit Ben-Yosef
Summary: Fragile X syndrome affects the development and function of human neuronal networks, with smaller cell bodies and reduced connections observed in FX-iNs compared to control iNs. FX networks also exhibit higher spontaneous burst-firing activity and lower network synchrony, providing insight into the intellectual dysfunction associated with FXS.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Cell Biology
Azalea Lee, Jie Xu, Zhexing Wen, Peng Jin
Summary: Fragile X syndrome is the most common inherited cause of intellectual disability and autism spectrum disorder. Human induced pluripotent stem cells provide a unique means of studying FXS pathophysiology specific to humans.
Article
Biochemistry & Molecular Biology
Dragana D. Protic, Ramkumar Aishworiya, Maria Jimena Salcedo-Arellano, Si Jie Tang, Jelena Milisavljevic, Filip Mitrovic, Randi J. Hagerman, Dejan B. Budimirovic
Summary: FXS is a neurodevelopmental disorder that can be improved through early diagnosis and interventions targeting behavior symptoms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Biochemistry & Molecular Biology
Pernille Bulow, Menahem Segal, Gary J. Bassell
Summary: This article discusses the emergence of hyperexcitability in neurodevelopmental disorders and explores recent advances in understanding novel mechanisms in Fragile X syndrome (FXS), providing new therapeutic strategies for FXS and other neurodevelopmental disorders.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Biotechnology & Applied Microbiology
Martin Akerman, Oliver I. Fregoso, Shipra Das, Cristian Ruse, Mads A. Jensen, Darryl J. Pappin, Michael Q. Zhang, Adrian R. Krainer
Meeting Abstract
Oncology
Adam Naguib, Gyula Bencze, Christopher R. Faehnle, Thomas Schalch, Zaolt Lazar, Cristian I. Ruse, Leemor Joshua-Tor, Darryl J. Peppin, Lloyd C. Trotman
Article
Biochemistry & Molecular Biology
Samira Fekairi, Sarah Scaglione, Charly Chahwan, Ewan R. Taylor, Agnes Tissier, Stephane Coulon, Meng-Qiu Dong, Cristian Ruse, John R. Yates, Paul Russell, Robert P. Fuchs, Clare H. McGowan, Pierre-Henri L. Gaillard
Article
Biochemical Research Methods
Bingwen Lu, Cristian I. Ruse, John R. Yates
JOURNAL OF PROTEOME RESEARCH
(2008)
Article
Biochemical Research Methods
Cristian I. Ruse, Daniel B. McClatchy, Bingwen Lu, Daniel Cociorva, Akira Motoyama, Sung Kyu Park, John R. Yates
JOURNAL OF PROTEOME RESEARCH
(2008)
Article
Virology
Stephen Schuck, Cristian Ruse, Arne Stenlund
JOURNAL OF VIROLOGY
(2013)
Article
Multidisciplinary Sciences
Claudio Scuoppo, Cornelius Miething, Lisa Lindqvist, Jose Reyes, Cristian Ruse, Iris Appelmann, Seungtai Yoon, Alexander Krasnitz, Julie Teruya-Feldstein, Darryl Pappin, Jerry Pelletier, Scott W. Lowe
Article
Genetics & Heredity
Susanna Obad, Camila O. dos Santos, Andreas Petri, Markus Heidenblad, Oliver Broom, Cristian Ruse, Cexiong Fu, Morten Lindow, Jan Stenvang, Ellen Marie Straarup, Henrik Frydenlund Hansen, Troels Koch, Darryl Pappin, Gregory J. Hannon, Sakari Kauppinen
Article
Multidisciplinary Sciences
Jiou Wang, George W. Farr, Caroline J. Zeiss, Diego J. Rodriguez-Gil, Jean H. Wilson, Krystyna Furtak, D. Thomas Rutkowski, Randal J. Kaufman, Cristian I. Ruse, John R. Yates, Steve Perrin, Mel B. Feany, Arthur L. Horwich
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2009)
Article
Biochemical Research Methods
Cristian I. Ruse, Samantha Peacock, Cornel Ghiban, Keith Rivera, Darryl J. Pappin, Peter Leopold
Article
Multidisciplinary Sciences
Saulius Vainauskas, Rebecca M. Duke, James McFarland, Colleen McClung, Cristian Ruse, Christopher H. Taron
SCIENTIFIC REPORTS
(2016)
Article
Biotechnology & Applied Microbiology
Zia Khan, Sasan Amini, Joshua S. Bloom, Cristian Ruse, Amy A. Caudy, Leonid Kruglyak, Mona Singh, David H. Perlman, Saeed Tavazoie
Meeting Abstract
Oncology
C. Miething, C. Scuoppo, L. Lindqvist, J. Reyes, C. Ruse, I Appelmann, S. Yoon, A. Krasnitz, J. Teruya-Feldstein, D. Pappin, J. Pelletier, S. Lowe
Meeting Abstract
Biochemistry & Molecular Biology
A. Horwich, A. Apetri, N. Tyagi, W. Fenton, C. Ruse, J. Yates, G. Farr, J. Wang
BIOCHEMISTRY AND CELL BIOLOGY-BIOCHIMIE ET BIOLOGIE CELLULAIRE
(2010)