Article
Neurosciences
Daniel Fil, Robbie L. Conley, Aamir R. Zuberi, Cathleen M. Lutz, Terry Gemelli, Marek Napierala, Jill S. Napierala
Summary: Friedreich's ataxia is a neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin. This study investigated the impact of the G130V mutation on Fxn expression and its multi-system effect in vivo.
NEUROBIOLOGY OF DISEASE
(2023)
Article
Multidisciplinary Sciences
Marta Prieto, Alessandra Folci, Gwenola Poupon, Sara Schiavi, Valeria Buzzelli, Marie Pronot, Urielle Francois, Paula Pousinha, Norma Lattuada, Sophie Abelanet, Sara Castagnola, Magda Chafai, Anouar Khayachi, Carole Gwizdek, Frederic Brau, Emmanuel Deval, Maura Francolini, Barbara Bardoni, Yann Humeau, Viviana Trezza, Stephane Martin
Summary: In this study, the authors present a Fmr1(R138Q) knock-in mouse model and show that the R138Q mutation results in impaired long-term potentiation and socio-cognitive performance in these mice.
NATURE COMMUNICATIONS
(2021)
Article
Psychiatry
Fang-Cheng Fan, Yang Du, Wen-Hui Zheng, Y. Peng Loh, Yong Cheng
Summary: This study demonstrates that conditional knockout of neuronal CPE leads to learning and memory deficits, hippocampal and amygdala degeneration, and reduced neurogenesis in mice.
TRANSLATIONAL PSYCHIATRY
(2023)
Article
Agriculture, Multidisciplinary
Jiaming Liu, Yuhe Zhang, Tao Ye, Qingxia Yu, Jiaheng Yu, Shushu Yuan, Xinxin Gao, Xinxin Wan, Rui Zhang, Weihua Han, Yang Zhang
Summary: This study found that coffee improved the motor deficits and dopaminergic neuronal loss in a mouse model of Parkinson's disease by regulating gut microbiota. Coffee increased the level of tight junction protein and reduced astrocyte activation marker level. It also decreased the levels of proapoptotic proteins and increased the level of antiapoptotic protein, preventing apoptotic cascade. Coffee also improved gut microbiota dysbiosis. These findings suggest that coffee's neuroprotective effects on Parkinson's disease involve the regulation of gut microbiota.
JOURNAL OF AGRICULTURAL AND FOOD CHEMISTRY
(2022)
Article
Cell Biology
Seongbin Kim, Hyoseon Oh, Sang Han Choi, Ye-Eun Yoo, Young Woo Noh, Yisul Cho, Geun Ho Im, Chanhee Lee, Yusang Oh, Esther Yang, Gyuri Kim, Won-Suk Chung, Hyun Kim, Hyojin Kang, Yongchul Bae, Seong-Gi Kim, Eunjoon Kim
Summary: In this study, researchers found that Myt1l deficiency in mice leads to autism-related phenotypes, which exhibit age-dependent characteristics. The study also suggests that while the reduction of Myt1l expression in juveniles temporarily improves these phenotypes, they reappear in adults.
Article
Behavioral Sciences
Alexander Andreev-Andrievskiy, Oleg Dolgov, Jeffrey Alberts, Anfisa Popova, Evgeniia Lagereva, Konstantin Anokhin, Olga Vinogradova
Summary: Spaceflight has profound and persistent effects on the physiology and behavior of mice, including deficits in balance responses, reduced muscle strength, and altered behavior. While these effects gradually improve post-flight, they are not fully resolved. These findings provide valuable insights for long-duration space exploration missions.
BEHAVIOURAL BRAIN RESEARCH
(2022)
Article
Medicine, Research & Experimental
Amel Saoudi, Sacha Barberat, Olivier le Coz, Mathilde Doisy Caquant, Thomas Tensorer, Eric Sliwinski, Luis Garcia, Francesco Muntoni, Cyrille Vaillend, Aurelie Goyenvalle
Summary: In the mdx52 mouse model, exon 51 skipping restores Dp427 expression in the brain, leading to a reduction in anxiety and unconditioned fear, and improvement in fear conditioning. However, the improvement in fear memory is limited.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2023)
Article
Behavioral Sciences
Flavio B. Goncalves, Mariana S. A. Garcia-Gomes, Ana Claudia Silva-Sampaio, Thiago B. Kirsten, Eduardo F. Bondan, Thaisa M. Sandini, Jorge C. Florio, Ivo Lebrun, Alex de C. Coque, Sandra R. Alexandre-Ribeiro, Silvia M. G. Massironi, Claudia M. C. Mori, Maria M. Bernardi
Summary: This study explored the development of motor dysfunction in tremor mutant mice and its relationship with levels of GABA, glutamate, glycine, dopamine, serotonin, noradrenaline, and cytokines in the brain. The results showed that motor impairments in the mutant mice were associated with changes in neurotransmitter levels in the cortical, striatal, and cerebellar regions. Reduced inhibitory pathway activity and altered neurotransmitter levels were implicated in the motor disturbances.
BEHAVIOURAL BRAIN RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Yu-Hsin Chen, Yen-Chou Chen, Ling-Ling Hwang, Liang-Yo Yang, Dah-Yuu Lu
Summary: The study suggests that androgen receptors play a crucial role in traumatic brain injury by mediating neuroprotective effects, regulating necrosis and autophagy, and impacting motor function and brain lesions.
Article
Neurosciences
Yuning Liu, Hong Xing, Alexis F. Ernst, Canna Liu, Christian Maugee, Fumiaki Yokoi, Madepalli Lakshmana, Yuqing Li
Summary: A hexanucleotide repeat expansion in the C9ORF72 gene is a commonly reported genetic cause of ALS and FTD. This study found that loss of C9ORF72 function leads to motor impairment in mice, with involvement of Purkinje cells in the cerebellum. The study also suggests that manipulating Purkinje cell activity or cerebellar output could be a potential treatment for C9ORF72-associated ALS/FTD.
MOLECULAR AND CELLULAR NEUROSCIENCE
(2022)
Article
Cell Biology
Qi-Xin Wen, Biao Luo, Xiao-Yong Xie, Gui-Feng Zhou, Jian Chen, Li Song, Yue Liu, Shi-Qi Xie, Long Chen, Kun-Yi Li, Xiao-Jiao Xiang, Guo-Jun Chen
Summary: AP2S1 plays a crucial role in the pathophysiology of Alzheimer disease (AD) by regulating the degradation and translocation of APP, which affects the generation of A beta. Knockdown or overexpression of AP2S1 decreases or increases the protein levels of APP and A beta, respectively, suggesting its importance in the pathogenesis of AD. This regulation is achieved through lysosomal degradation rather than endocytosis.
Article
Cardiac & Cardiovascular Systems
Julius R. Herting, Jule H. Koenig, Katarina Hadova, Alexander Heinick, Frank U. Mueller, Paul Pauls, Matthias D. Seidl, Carolina Soppa, Uwe Kirchhefer
Summary: PR72 overexpression in myocardial cells results in mild cardiac hypertrophy and increased contractility. This is accompanied by an increase in the peak amplitude of Ca2+ transients, a shorter decay in intracellular Ca2+ levels, and longer duration and wider width of Ca2+ sparks. Consistent with the contractile data, phosphorylation of phospholamban is also increased in TG hearts, while expression of the Na+/Ca2+ exchanger is decreased.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Multidisciplinary Sciences
Pablo Serrano-Lorenzo, Dino Gobelli, Rocio Garrido-Moraga, Maria J. Esteban-Amo, Jose R. Lopez-Lopez, Antonio Orduna, Miguel A. de la Fuente, Miguel A. Martin, Maria Simarro
Summary: Increasing evidence shows that the electron transfer chain is crucial in controlling macrophages' effector functions. This study generated Ndufs4-/- mouse macrophage cell lines, which exhibit decreased complex I activity, altered complex I assembly, and reduced levels of maximal respiration and ATP production. These mitochondrial respiration alterations are associated with a pro-inflammatory cytokine profile response and enhanced phagocytosis of Gram-negative bacteria.
Article
Behavioral Sciences
Emre Fertan, Richard E. Brown
Summary: The 5xFAD mouse model of Alzheimer's disease (AD) exhibits age-related neuropathology and impairments in sensory, motor, and cognitive function. This study investigated how age-related changes in motor function affected working memory performance in 5xFAD mice using the Hebb-Williams Maze (HWM). The results showed that the 5xFAD mice performed better on the accelerating rotarod at 6 months of age but worse at 12 months of age compared to WT mice. In the HWM, the 5xFAD mice made more errors on difficult problems at 6 months of age and more errors at each level of problem difficulty at 12 months of age compared to WT mice. The latency to solve problems was higher for 5xFAD mice in difficult problems at 6 months of age and in intermediate problems at 12 months of age. Overall, the deficits in working memory observed in 5xFAD mice in the HWM were not confounded by impaired motor performance.
BEHAVIOURAL BRAIN RESEARCH
(2022)
Article
Neurosciences
Ayan Hussein, Alexander Tielemans, Mark G. Baxter, Deanna L. Benson, George W. Huntley
Summary: The Lrrk2(G2019S) mutation negatively impacts cholinergic innervation anatomically and functionally, impairing corticostriatal network function, potentially contributing to early PD-associated executive function deficits.
EXPERIMENTAL NEUROLOGY
(2022)
Article
Biochemistry & Molecular Biology
Jianfang Liu, Tara Lichtenberg, Katherine A. Hoadley, Laila M. Poisson, Alexander J. Lazar, Andrew D. Cherniack, Albert J. Kovatich, Christopher C. Benz, Douglas A. Levine, Adrian V. Lee, Larsson Omberg, Denise M. Wolf, Craig D. Shriver, Vesteinn Thorsson, Hai Hu
Article
Biochemistry & Molecular Biology
Han Chen, Chunyan Li, Xinxin Peng, Zhicheng Zhou, John N. Weinstein, Han Liang
Article
Cell Biology
Joshua D. Campbell, Christina Yau, Reanne Bowlby, Yuexin Liu, Kevin Brennan, Huihui Fan, Alison M. Taylor, Chen Wang, Vonn Walter, Rehan Akbani, Lauren Averett Byers, Chad J. Creighton, Cristian Coarfa, Juliann Shih, Andrew D. Cherniack, Olivier Gevaert, Marcos Prunello, Hui Shen, Pavana Anur, Jianhong Chen, Hui Cheng, D. Neil Hayes, Susan Bullman, Chandra Sekhar Pedamallu, Akinyemi I. Ojesina, Sara Sadeghi, Karen L. Mungall, A. Gordon Robertson, Christopher Benz, Andre Schultz, Rupa S. Kanchi, Carl M. Gay, Apurva Hegde, Lixia Diao, Jing Wang, Wencai Ma, Pavel Sumazin, Hua-Sheng Chiu, Ting-Wen Chen, Preethi Gunaratne, Larry Donehower, Janet S. Rader, Rosemary Zuna, Hikmat Al-Ahmadie, Alexander J. Lazar, Elsa R. Flores, Kenneth Y. Tsai, Jane H. Zhou, Anil K. Rustgi, Esther Drill, Ronglei Shen, Christopher K. Wong, Joshua M. Stuart, Peter W. Laird, Katherine A. Hoadley, John N. Weinstein, Myron Peto, Curtis R. Pickering, Zhong Chen, Carter Van Waes
Article
Cell Biology
Theo A. Knijnenburg, Linghua Wang, Michael T. Zimmermann, Nyasha Chambwe, Galen F. Gao, Andrew D. Cherniack, Huihui Fan, Hui Shen, Gregory P. Way, Casey S. Greene, Yuexin Liu, Rehan Akbani, Bin Feng, Lawrence A. Donehower, Chase Miller, Yang Shen, Mostafa Karimi, Haoran Chen, Pora Kim, Peilin Jia, Eve Shinbrot, Shaojun Zhang, Jianfang Liu, Hai Hu, Matthew H. Bailey, Christina Yau, Denise Wolf, Zhongming Zhao, John N. Weinstein, Lei Li, Li Ding, Gordon B. Mills, Peter W. Laird, David A. Wheeler, Ilya Shmulevich, Raymond J. Monnat, Yonghong Xiao, Chen Wang
Article
Biochemistry & Molecular Biology
Richa Gupta, Giorgia Radicioni, Sabri Abdelwahab, Hong Dang, Jerome Carpenter, Michael Chua, Piotr A. Mieczkowski, John T. Sheridan, Scott H. Randell, Mehmet Kesimer
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
(2019)
Letter
Genetics & Heredity
Diane Armao, Thomas W. Bouldin, Rachel M. Bailey, Jody E. Hooper, Diana X. Bharucha, Steven J. Gray
ORPHANET JOURNAL OF RARE DISEASES
(2019)
Article
Multidisciplinary Sciences
Rui Yang, Kathryn K. Walder-Christensen, Namsoo Kim, Danwei Wu, Damaris N. Lorenzo, Alexandra Badea, Yong-Hui Jiang, Henry H. Yin, William C. Wetsel, Vann Bennett
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2019)
Article
Multidisciplinary Sciences
Damaris N. Lorenzo, Alexandra Badea, Ruobo Zhou, Peter J. Mohler, Xiaowei Zhuang, Vann Bennett
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2019)
Correction
Immunology
Vesteinn Thorsson, David L. Gibbs, Scott D. Brown, Denise Wolf, Dante S. Bortone, Tai-Hsien Ou Yang, Eduard Porta-Pardo, Galen F. Gao, Christopher L. Plaisier, James A. Eddy, Elad Ziv, Aedin C. Culhane, Evan O. Paull, I. K. Ashok Sivakumar, Andrew J. Gentles, Raunaq Malhotra, Farshad Farshidfar, Antonio Colaprico, Joel S. Parker, Lisle E. Mose, Nam Sy Vo, Jianfang Liu, Yuexin Liu, Janet Rader, Varsha Dhankani, Sheila M. Reynolds, Reanne Bowlby, Andrea Califano, Andrew D. Cherniack, Dimitris Anastassiou, Davide Bedognetti, Younes Mokrab, Aaron M. Newman, Arvind Rao, Ken Chen, Alexander Krasnitz, Hai Hu, Tathiane M. Malta, Houtan Noushmehr, Chandra Sekhar Pedamallu, Susan Bullman, Akinyemi I. Ojesina, Andrew Lamb, Wanding Zhou, Hui Shen, Toni K. Choueiri, John N. Weinstein, Justin Guinney, Joel Saltz, Robert A. Holt, Charles S. Rabkin, Alexander J. Lazar, Jonathan S. Serody, Elizabeth G. Demicco, Mary L. Disis, Benjamin G. Vincent, Ilya Shmulevich
Review
Cell Biology
Damaris N. Lorenzo
Article
Clinical Neurology
Diane Armao, Terry S. Hartman, Laurence Katz, Christopher M. Shea, Jenna Koschnitzky, Richard Yang, J. Keith Smith, Carolyn Quinsey
Summary: The study found that communication about the risks and benefits of CT scans among families of hydrocephalus patients is often inconsistent. However, participants unanimously agreed on the importance of discussing risks and benefits before CT scans, while expressing a desire for more education and information support.
CHILDS NERVOUS SYSTEM
(2021)
Article
Genetics & Heredity
Diane Armao, Thomas W. Bouldin, Rachel M. Bailey, Steven J. Gray
Summary: The study identified progressive degeneration of rod and cone photoreceptor cells in the retinas of newly developed GAN rat models, suggesting a possible contribution to visual impairment in human GAN patients. The current gene therapy clinical trial for GAN treatment does not specifically address this retinal cell degeneration, indicating the need for future treatment protocols to potentially include strategies targeting the protection of these cells.
OPHTHALMIC GENETICS
(2021)
Article
Genetics & Heredity
Margot A. Cousin, Blake A. Creighton, Keith A. Breau, Rebecca C. Spillmann, Erin Torti, Sruthi Dontu, Swarnendu Tripathi, Deepa Ajit, Reginald J. Edwards, Simone Afriyie, Julia C. Bay, Kathryn M. Harper, Alvaro A. Beltran, Lorena J. Munoz, Liset Falcon Rodriguez, Michael C. Stankewich, Richard E. Person, Yue Si, Elizabeth A. Normand, Amy Blevins, Alison S. May, Louise Bier, Vimla Aggarwal, Grazia M. S. Mancini, Marjon A. van Slegtenhorst, Kirsten Cremer, Jessica Becker, Hartmut Engels, Stefan Aretz, Jennifer J. MacKenzie, Eva Brilstra, Koen L. I. van Gassen, Richard H. van Jaarsveld, Renske Oegema, Gretchen M. Parsons, Paul Mark, Ingo Helbig, Sarah E. McKeown, Robert Stratton, Benjamin Cogne, Bertrand Isidor, Pilar Cacheiro, Damian Smedley, Helen V. Firth, Tatjana Bierhals, Katja Kloth, Deike Weiss, Cecilia Fairley, Joseph T. Shieh, Amy Kritzer, Parul Jayakar, Evangeline Kurtz-Nelson, Raphael A. Bernier, Tianyun Wang, Evan E. Eichler, Ingrid M. B. H. van de Laar, Allyn McConkie-Rosell, Marie T. McDonald, Jennifer Kemppainen, Brendan C. Lanpher, Laura E. Schultz-Rogers, Lauren B. Gunderson, Pavel N. Pichurin, Grace Yoon, Michael Zech, Robert Jech, Juliane Winkelmann, Adriana S. Beltran, Michael T. Zimmermann, Brenda Temple, Sheryl S. Moy, Eric W. Klee, Queenie K. -G. Tan, Damaris N. Lorenzo
Summary: SPTBN1 mutations cause a neurodevelopmental syndrome with intellectual disability, language and motor delays, and other features. Heterozygous SPTBN1 variants disrupt beta II-spectrin stability, binding to molecular partners, and disturb cytoskeleton organization and dynamics, suggesting compromise of neural development and function. This study expands the understanding of spectrinopathies affecting the brain and highlights the critical role of beta II-spectrin in the central nervous system.
Article
Biology
Blake A. Creighton, Simone Afriyie, Deepa Ajit, Cristine R. Casingal, Kayleigh M. Voos, Joan Reger, April M. Burch, Eric Dyne, Julia Bay, Jeffrey K. Huang, Eva S. Anton, Meng-Meng Fu, Damaris N. Lorenzo
Summary: Variants in the high-confidence autism spectrum disorder (ASD) gene ANK2 target both the ubiquitously expressed 220 kDa ankyrin-B and the neurospecific 440 kDa ankyrin-B (AnkB440) isoforms, affecting axonal collateral branching and growth cone collapse. Deficits in AnkB440 response to repellent cues may contribute to the pathogenicity of ANK2 variants.
Review
Neurosciences
Damaris N. N. Lorenzo, Reginald J. J. Edwards, Anastasia L. L. Slavutsky
Summary: Spectrins, encoded by genes such as SPTAN1, SPTBN1, SPTBN2 and SPTBN4, are implicated in neurological disorders. This review summarizes the diverse functions and organization of neuronal spectrins and provides insights into the pathophysiology of spectrinopathies, aided by functional studies in mouse models.
NATURE REVIEWS NEUROSCIENCE
(2023)