Article
Biochemistry & Molecular Biology
Yejin Lee, Hyeongju Kim, Douglas Barker, Ravi Vijayvargia, Ranjit Singh Atwal, Harrison Specht, Hasmik Keshishian, Steven A. Carr, Ramee Lee, Seung Kwak, Kyung-Gi Hyun, Jacob Loupe, Marcy E. MacDonald, Ji-Joon Song, Ihn Sik Seong
Summary: This study identified new phosphorylation sites in huntingtin protein through mass spectrometry analysis, which are found to be related to the pathogenesis and protein degradation in Huntington's disease. These findings provide clues for further investigation.
HUMAN MOLECULAR GENETICS
(2023)
Article
Medicine, Research & Experimental
Shaohong Isaac Peng, Lok Leong, Jacquelyne Ka-Li Sun, Zhefan Stephen Chen, Hei-Man Chow, Ho Yin Edwin Chan
Summary: This study found that synaptic defects and abnormal neurite outgrowth exist in mutant Ataxin-2-expressing mouse primary cortical neurons. The CAG RNA-binding peptide BIND can rescue these abnormalities by inhibiting sCAG RNA production, Ataxin-2 CAG RNA foci formation, and mutant Ataxin-2 protein translation. However, when the expansion of CAG repeats is interrupted, BIND loses its inhibitory effect on mutant protein aggregation.
MOLECULAR THERAPY-NUCLEIC ACIDS
(2022)
Article
Biology
Sushila A. Shenoy, Sushuang Zheng, Wencheng Liu, Yuanyi Dai, Yuanxiu Liu, Zhipeng Hou, Susumu Mori, Yi Tang, Jerry Cheng, Wenzhen Duan, Chenjian Li
Summary: Here we report the successful generation and characterization of a novel Huntington's disease mouse model BAC226Q, which exhibits HD-like phenotypes and can serve as a valuable tool for studying disease mechanisms and testing therapeutic approaches.
Article
Cell Biology
Sandra Franco-Iborra, Ainhoa Plaza-Zabala, Marta Montpeyo, David Sebastian, Miquel Vila, Marta Martinez-Vicente
Summary: The study found that HTT protein plays a crucial role in mitophagy, and the expansion of its polyQ tract affects this process, ultimately leading to the accumulation of damaged mitochondria and an increase in oxidative stress, leading to negative effects on mitochondrial dysfunction and neurodegeneration in Huntington disease.
Article
Multidisciplinary Sciences
David F. Fischer, Sipke Dijkstra, Kimberly Lo, Johnny Suijker, Ana C. P. Correia, Patricia Naud, Martin Poirier, Michela A. Tessari, Ivette Boogaard, Geraldine Flynn, Mijke Visser, Marieke B. A. C. Lamers, George McAllister, Ignacio Munoz-Sanjuan, Douglas Macdonald
Summary: Huntington's disease is caused by a genetic mutation that leads to the expression of a mutant huntingtin protein. Researchers have developed sensitive assays to detect this protein, providing a sustainable resource for studying the disease.
Article
Biochemistry & Molecular Biology
Marina G. Yefimova, Emile Bere, Anne Cantereau-Becq, Annie-Claire Meunier-Balandre, Bruno Merceron, Agnes Burel, Karine Merienne, Celia Ravel, Frederic Becq, Nicolas Bourmeyster
Summary: The study focused on the ultrastructure of the pathological retina in HD R6/1 mice and discovered the presence of myelinosomes, abnormal organelles enriched with mutant Huntingtin protein, which may contribute to the spread of HD in the retina. Exploring the presence of myelinosomes in ocular fluids could potentially serve as an additional biomarker for HD diagnostics.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Review
Environmental Sciences
Sukhbir Singh, Hema, Neelam Sharma, Monika Sachdeva, Tapan Behl, Ishrat Zahoor, Neeraj Kumar Fuloria, Mahendran Sekar, Shivkanya Fuloria, Vetriselvan Subramaniyan, Amal M. Alsubayiel, Hamed Ghaleb Dailah, Tanveer Naved, Saurabh Bhatia, Ahmed Al-Harrasi, Lotfi Aleya
Summary: Neurodegeneration refers to the loss of neuronal capacity and structure over time, leading to neurodegenerative disorders such as Alzheimer's, amyotrophic lateral sclerosis, Parkinson's, and Huntington's disease (HD). This review primarily focuses on HD, a common single-gene neurological disorder. HD affects the entire body and brain, with a mutant huntingtin polyglutamine sequence that leads to apoptosis and dysfunction. Nanoparticles have emerged as a promising strategy for the treatment of HD, as they can cross the blood-brain barrier and reduce drug toxicity. This review provides an overview of HD, including its symptoms, genetics, and management, and discusses the latest studies on nanotechnology-related technologies for HD treatment.
ENVIRONMENTAL SCIENCE AND POLLUTION RESEARCH
(2022)
Article
Biochemical Research Methods
Yang Lin, Xiaoyong Pan, Hong-Bin Shen
Summary: This study presents an updated cell-line-specific predictor IncLocator 2.0, which uses deep models trained per cell line to predict IncRNA subcellular localization from sequences. By constructing benchmark datasets, learning word embeddings, and utilizing different neural networks, IncLocator 2.0 achieves varying effectiveness in different cell lines and demonstrates the necessity of training cell-line-specific models. Moreover, the use of Integrated Gradients helps explain the proposed model and identifies potential patterns related to specific nucleotides that determine the subcellular localizations of IncRNAs.
Article
Neurosciences
Dazhang Bai, Longhong Zhu, Qingqing Jia, Xuezhi Duan, Laiqiang Chen, Xiang Wang, Junqi Hou, Guohui Jiang, Su Yang, Shihua Li, Xiao-Jiang Li, Peng Yin
Summary: Loss of TDP-43 leads to expansion of CAG repeat in Huntington's disease gene by dysregulating the expression of DNA mismatch repair genes. These findings highlight the importance of TDP-43 in the pathogenesis of CAG repeat diseases.
PROGRESS IN NEUROBIOLOGY
(2023)
Article
Cell Biology
Shreya Rajachandran, Xin Zhang, Qiqi Cao, Andre L. Caldeira-Brant, Xiangfan Zhang, Youngmin Song, Melanie Evans, Orhan Bukulmez, Edward J. Grow, Makoto Nagano, Kyle E. Orwig, Haiqi Chen
Summary: In this study, the molecular, cellular, and spatial composition of SSC niches was systematically dissected using spatial transcriptomics, computational analyses, and functional assays. The results showed that pleiotrophin regulates mouse SSC functions through syndecan receptors, and ephrin-A1 may be a niche factor that influences human SSC functions. Moreover, the spatial re-distribution of inflammation-related LR interactions was found to underlie diabetes-induced testicular injury. This study provides a systems approach to understanding the complex organization of the stem cell microenvironment in health and disease.
Article
Psychiatry
Lang He, Shang Wang, Linliu Peng, Huifang Zhao, Shuai Li, Xiaobo Han, Jean de Dieu Habimana, Zhao Chen, Chunrong Wang, Yun Peng, Huirong Peng, Yue Xie, Lijing Lei, Qi Deng, Linlin Wan, Na Wan, Hongyu Yuan, Yiqing Gong, Guangdong Zou, Zhiyuan Li, Beisha Tang, Hong Jiang
Summary: SCA3 is a neurodegenerative disease caused by abnormal CAG repeats, and CRISPR/Cas9 technology shows potential in correcting SCA3-iPSCs. This study highlights the importance of genetic control and stem cell therapy in understanding and treating SCA3.
TRANSLATIONAL PSYCHIATRY
(2021)
Article
Biochemistry & Molecular Biology
Adam Ciesiolka, Anna Stroynowska-Czerwinska, Pawel Joachimiak, Agata Ciolak, Emilia Kozlowska, Michal Michalak, Magdalena Dabrowska, Marta Olejniczak, Katarzyna D. Raczynska, Dominika Zielinska, Magdalena Wozna-Wysocka, Wlodzimierz J. Krzyzosiak, Agnieszka Fiszer
Summary: Polyglutamine diseases, such as Huntington's disease, are incurable neurological disorders caused by CAG repeat expansion in specific genes. The use of CAG repeat-targeting artificial miRNAs shows promise in selectively decreasing mutant protein levels. Research suggests that the efficiency and selectivity of art-miRNAs are influenced by the localization and sequence context of CAG repeats in the transcript. Additionally, the downregulation of mutant polyQ proteins involves rapid activation of translational repression and transcript deadenylation, with the slicer activity of AGO2 being dispensable in this process.
CELLULAR AND MOLECULAR LIFE SCIENCES
(2021)
Article
Chemistry, Multidisciplinary
Caijuan Li, Yingqi Lin, Yizhi Chen, Xichen Song, Xiao Zheng, Jiawei Li, Jun He, Xiusheng Chen, Chunhui Huang, Wei Wang, Jianhao Wu, Jiaxi Wu, Jiale Gao, Zhuchi Tu, Xiao-Jiang Li, Sen Yan, Shihua Li
Summary: Researchers designed a peptide that specifically binds mutant huntingtin and its aggregates, and brings them into lysosomes for degradation, thereby improving neuropathology and behavioral abnormalities in HD KI-140Q mice.
Review
Neurosciences
Zainab Irfan, Sofia Khanam, Varnita Karmakar, Sayeed Mohammed Firdous, Bothaina Samih Ismail Abou El Khier, Ilyas Khan, Muneeb U. Rehman, Andleeb Khan
Summary: Huntington's disease is a neuro-degenerative disorder characterized by abnormal movements, cognitive and psychiatric disorders. The expansion of CAG trinucleotide in the htt gene leads to neuronal death and network degeneration in the brain, causing loss of motor coordination and muscle function.
Article
Cell Biology
Sara Bilekova, Balma Garcia-Colomer, Alberto Cebrian-Serrano, Silvia Schirge, Karsten Krey, Michael Sterr, Thomas Kurth, Stefanie M. Hauck, Heiko Lickert
Summary: Spermatogenesis is a crucial biological process that produces functional sperm for successful reproduction. The acrosome, a lysosome-related organelle in the sperm head, is essential for egg-sperm recognition and fusion. The role of the insulin inhibitory receptor (inceptor) in acrosome formation was investigated, and its absence resulted in acrosomal malformation and male infertility.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2023)
Article
Neurosciences
Keun-Hwa Jung, Kyung-Il Park, Woo-Jin Lee, Hyoshin Son, Kon Chu, Sang Kun Lee
Summary: This study investigated the relationship of plasma OA beta levels with clinical and radiological variables in a health screening population. The results suggest that both WML and plasma OA beta levels can serve as early markers for neurodegeneration in the healthcare population, especially in the periventricular area, which may be related to amyloid pathogenesis.
JOURNAL OF ALZHEIMERS DISEASE
(2022)
Article
Clinical Neurology
Seon-Jae Ahn, Han Sang Lee, Jangsup Moon, Kon Chu
Summary: The article presents the first familial cases of Gerstmann-Straussler-Scheinker disease (GSS) in South Korea, highlighting the possibility of misdiagnosis as hereditary cerebellar ataxia and the phenotypical variability of GSS despite the same genetic mutation.
NEUROLOGICAL SCIENCES
(2022)
Article
Clinical Neurology
Woo-Jin Lee, Jun-Sang Sunwoo, Jung-Ick Byun, Han-Joon Kim, Soon-Tae Lee, Keun-Hwa Jung, Kyung-Il Park, Kon Chu, Manho H. Kim, Sang Kun Lee, Carlos H. Schenck, Ki-Young Jung
Summary: This study evaluated the frequency of symptom improvement in isolated REM sleep behavior disorder (iRBD) patients with coexisting obstructive sleep apnea (OSA) after positive airway pressure (PAP) treatment. The results suggest that respiratory events that co-occur with REM without atonia (RWA) may predict improvement in RBD symptoms after PAP treatment.
Article
Clinical Neurology
Yoonhyuk Jang, Woo-Jin Lee, Han Sang Lee, Kon Chu, Sang Kun Lee, Soon-Tae Lee
Summary: Anakinra may be a therapeutic option for refractory cerebral autoinflammatory diseases, but it may be ineffective for some patients.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2022)
Article
Clinical Neurology
Woo-Jin Lee, Young Nam Kwon, Boram Kim, Jangsup Moon, Kyung-Il Park, Kon Chu, Jung-Joon Sung, Sang Kun Lee, Sung-Min Kim, Soon-Tae Lee
Summary: This study investigated the clinical characteristics and outcomes of myelin oligodendrocyte glycoprotein (MOG) antibody-associated autoimmune encephalitis (MOGAE) in adult patients. The results showed that the outcomes varied according to the three phenotypes in MOGAE. Short immunotherapy maintenance was associated with relapse, and brain atrophy and dual antibodies of NMDAR and MOG were associated with poor outcomes.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY
(2023)
Article
Clinical Neurology
Seon-Jae Ahn, Soon-Tae Lee, Kon Chu
Summary: Autoimmune encephalitis, specifically GABA B receptor antibody encephalitis, can occur after ChAdOx1 nCoV-19 vaccination. Symptoms may include generalized tonic-clonic seizures, cognitive decline, and gait disturbance. Treatment typically involves immunotherapy.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2022)
Letter
Clinical Neurology
Mi-Kyoung Kang, Seon-Jae Ahn, Jiyeon Ha, Sung Hye Park, Jangsup Moon, Kon Chu
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2023)
Article
Clinical Neurology
Seondeuk Kim, Jangsup Moon, Keun-Hwa Jung, Seon-Jae Anh, Han Sang Lee, Yoonhyuk Jang, Kyung-Il Park, Sang Kun Lee, Kon Chu
Summary: This study retrospectively analyzed the genetic tests of clinical FCCM patients and found that brainstem lesions could be a radiologic marker for FCCM with the mutation detected. The age-related disease burden regarding FCCM was also demonstrated according to genetic information.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
Article
Clinical Neurology
Kyung-Il Park, Sungeun Hwang, Hyoshin Son, Kon Chu, Ki-Young Jung, Sang Kun Lee
Summary: This study aimed to identify factors related to PER retention and polytherapy pattern. Among 2,655 patients with epilepsy, 328 patients were enrolled. The retention of PER was associated with younger age at onset, indicating longer usage in patients with a lower age at onset.
JOURNAL OF CLINICAL NEUROLOGY
(2023)
Article
Clinical Neurology
Hyoshin Son, Kyung-Il Park, Dae-Seop Shin, Jangsup Moon, Soon -Tae Lee, Keun-Hwa Jung, Ki-Young Jung, Kon Chu, Sang Kun Lee
Summary: This study aimed to evaluate the supportive value of the morphometric analysis program (MAP) in detecting focal cortical dysplasia (FCD) in a single institution in Korea. The MAP, combined with interpretations by radiologists, was found to increase the detection rate of FCD. The MAP showed the strongest ability in detecting FCD IIa and was not affected by the type of reference scanner.
JOURNAL OF CLINICAL NEUROLOGY
(2023)
Letter
Clinical Neurology
Seondeuk Kim, Seoyeon Kim, Yoonhyuk Jang, Kon Chu
JOURNAL OF CLINICAL NEUROLOGY
(2023)
Article
Clinical Neurology
Yoonhyuk Jang, Kwanghoon Lee, Cheol Lee, Kon Chu, Sang Kun Lee, Jae-Kyung Won, Soon-Tae Lee
Summary: By comparing NMDARe-associated teratomas with non-encephalitic control teratomas, it was found that there were no significant differences in mutations between the two types of teratomas in terms of genomic analysis. Pathologic analysis revealed similar presence of neuronal tissue and lymphocytic infiltration between the two groups, but rituximab-naive encephalitic teratomas showed a higher frequency of germinal center formation.
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
(2023)
