Review
Biochemistry & Molecular Biology
Terence Gall-Duncan, Nozomu Sato, Ryan K. C. Yuen, Christopher E. Pearson
Summary: Expansions of gene-specific DNA tandem repeats (TRs) have been found to cause more than 60 phenotypes, not just disease, and not only in humans. Technological advances in DNA sequencing and computational analyses have accelerated the discovery of disease-causing TR expansions. From 2019 to 2021, 17 new disease-causing TR expansions were reported, totaling over 69 diseases. Repeat diseases exhibit atypical clinical features, genetic anticipation, and multiple and partially penetrant phenotypes among family members.
Article
Biotechnology & Applied Microbiology
Readman Chiu, Indhu-Shree Rajan-Babu, Jan M. Friedman, Inanc Birol
Summary: Tandem repeat (TR) expansion is the underlying cause of over 40 neurological disorders, and long-read sequencing technology offers an exciting avenue for detecting TR expansions. The software tool Straglr allows for targeted genotyping and novel expansion detection, showing potential for investigating disease-associated TR expansions using long-read sequencing.
Article
Multidisciplinary Sciences
Layla T. Ghaffari, Davide Trotti, Aaron R. Haeusler
Summary: The C9orf72 gene mutation is a common cause of ALS and FTD, and its expression in healthy neurons is regulated by membrane depolarization. However, this regulation is altered in neurons derived from C9-NRE carriers, which may have implications for the unique clinical associations of C9-NRE transcripts and disease pathogenesis.
Article
Biochemical Research Methods
Xuewen Wang, Bruce Budowle, Jianye Ge
Summary: USAT is a user-friendly bioinformatics software that allows for interpretation, visualization, and comparisons of TRs. It offers various functions such as allele size conversion, sequence comparison of haplotypes, figure plotting, comparison for allele distribution, and interactive visualization. An exemplary application of USAT for analyzing the CODIS core STR loci for DNA forensics showcased its capabilities in benchmarking human individuals.
BMC BIOINFORMATICS
(2022)
Article
Neurosciences
Jing Cheng, Huancheng Zheng, Chenyu Liu, Jiabin Jin, Zhenkai Xing, Yili Wu
Summary: Alzheimer's disease (AD) is the most common neurodegenerative disease leading to dementia in the elderly. The Ubiquitin proteasome system (UPS) is critical in AD pathogenesis, and UBE2O, a major component of UPS, shows reduced expression with age and in AD mice. Increasing UBE2O expression or activity may be a potential approach for AD treatment by inhibiting neuronal death.
JOURNAL OF ALZHEIMERS DISEASE
(2023)
Article
Cell Biology
A. Ra Kho, Bo Young Choi, Song Hee Lee, Dae Ki Hong, Beom Seok Kang, Si Hyun Lee, Sang Won Suh
Summary: The administration of imipramine after hypoglycemia significantly reduces neuronal death and improves cognitive function, suggesting it as a promising therapeutic tool for preventing hypoglycemia-induced neuronal death.
Article
Cell Biology
Sentiljana Gumeni, Eleni-Dimitra Papanagnou, Maria S. Manola, Ioannis P. Trougakos
Summary: The balanced functionality of cellular proteostatic modules, particularly the Parkin/Pink1 pathway, is crucial for maintaining proteome stability and mitochondrial function. Activation of the Nrf2 pathway shows therapeutic potential in ameliorating age-related degenerative diseases by modulating mitophagy and proteostatic responses.
CELL DEATH & DISEASE
(2021)
Article
Neurosciences
Ruming Deng, Wenjie Wang, Xiang Xu, Jiasheng Ding, Jiahe Wang, Siyuan Yang, Haiying Li, Haitao Shen, Xiang Li, Gang Chen
Summary: Mitochondrial damage is crucial in secondary brain injury caused by intracerebral hemorrhage (ICH), and MIC60 plays a significant role in maintaining mitochondrial structure and function. Overexpression of MIC60 can reduce neuronal death and functional impairments induced by ICH, suggesting that MIC60 may be a promising target for ICH therapy.
MOLECULAR NEUROBIOLOGY
(2021)
Article
Neurosciences
Christian M. Simon, Beatriz Blanco-Redondo, Jannik M. Buettner, John G. Pagiazitis, Emily V. Fletcher, Josiane K. Sime Longang, George Z. Mentis
Summary: The study reveals that chronic treatment with 4-aminopyridine (4-AP) improves motor behavior in both sexes of a severe mouse model of spinal muscular atrophy (SMA) by increasing neuronal activity, restoring neurotransmission and synapse numbers, particularly proprioceptive synapses and neuromuscular junctions (NMJs), without affecting motor neuron death. Additionally, combining 4-AP treatment with pharmacological inhibition of p53-dependent motor neuron death leads to additive effects, fully correcting sensory-motor circuit pathology and enhancing phenotypic benefits in SMA mice.
JOURNAL OF NEUROSCIENCE
(2021)
Article
Biochemistry & Molecular Biology
Shubhangini Tiwari, Abhishek Singh, Parul Gupta, K. Amrutha, Sarika Singh
Summary: This study investigates the role of the ubiquitin-encoding gene UBA52 in mitochondrial physiology. UBA52 interacts with VDAC1, and its overexpression protects neurons from oxidative stress and improves mitochondrial functionality and cell viability. This provides new insights into the prevention of dopaminergic cell death during acute Parkinson's disease pathogenesis.
ACS CHEMICAL NEUROSCIENCE
(2023)
Article
Multidisciplinary Sciences
Nerea Jimenez-Tellez, Fahad Iqbal, Marcus Pehar, Alberto Casas-Ortiz, Tiffany Rice, Naweed Syed
Summary: Dexmedetomidine has been found to have low neurotoxicity and can promote neuronal growth and branching, protecting neurons from cytotoxic effects induced by other anesthetics. However, higher concentrations may lead to cell death, and further studies are needed to understand its effects on synaptic connections.
SCIENTIFIC REPORTS
(2021)
Article
Biochemistry & Molecular Biology
Parul Gupta, Shubhangini Tiwari, Abhishek Singh, Amit Pal, Amit Mishra, Sarika Singh
Summary: Rivastigmine, a clinical drug for Alzheimer's disease, not only inhibits acetylcholinesterase activity and improves cognition, but also has significant effects on disease-related pathological mechanisms, including tau levels, amyloid aggregation, biochemical alterations, ER functionality, protein degradation machinery, and neuronal apoptosis.
BIOCHEMICAL JOURNAL
(2021)
Review
Clinical Neurology
Francisca Barake, Marcela Bravo-Zehnder, Alfonso Gonzalez
Summary: This review study explores a new regulation system in the hippocampus involving the neuronal surface P antigen (NSPA) and the tyrosine phosphatase PTPMEG/PTPN4, which has potential therapeutic implications for cognitive dysfunction in systemic lupus erythematosus (SLE) patients.
CURRENT OPINION IN NEUROLOGY
(2022)
