Review
Clinical Neurology
Jared S. Katzeff, Fiona Bright, Katherine Phan, Jillian J. Kril, Lars M. Ittner, Michael Kassiou, John R. Hodges, Olivier Piguet, Matthew C. Kiernan, Glenda M. Halliday, Woojin Scott Kim
Summary: This study explores and evaluates potential biomarkers for distinguishing frontotemporal dementia and amyotrophic lateral sclerosis, aiming to improve diagnosis and treatment for patients. The two diseases share common genetic and molecular features, with a lack of sensitive and specific biomarkers for diagnostic and disease surveillance purposes.
Review
Neurosciences
Wan Zhou, Renshi Xu
Summary: Amyotrophic lateral sclerosis (ALS) is a progressive and fatal neurodegenerative disease that results in the loss of motor neurons and other neurons and glial cells, causing muscle atrophy, severe disability, and eventual death. The pathogenesis of ALS involves various factors such as genetic mutations, protein homeostasis imbalances, RNA metabolism disorders, mitochondrial dysfunctions, glutamate-mediated excitatory toxicities, and intra-neuronal material transport disorders. Understanding the molecular genetic pathogenesis of ALS can provide new insights into its occurrence and progression.
FRONTIERS IN NEUROSCIENCE
(2023)
Article
Biochemistry & Molecular Biology
Danielle Whitham, Eugene Belenkiy, Costel C. C. Darie, Aurelian Radu
Summary: Lymphoblastoid cell lines (LCLs) are ideal for studying ALS, and proteomics analysis using liquid chromatography followed by tandem mass spectrometry can identify differentially expressed proteins and cellular pathways in ALS compared to healthy controls. This provides a promising approach for further investigating ALS mechanisms and searching for therapeutic agents.
Review
Neurosciences
Frances Theunissen, Phillip K. West, Samuel Brennan, Bojan Petrovic, Kosar Hooshmand, P. Anthony Akkari, Matt Keon, Boris Guennewig
Summary: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease characterized by the selective early degeneration of motor neurons in the brain and spinal cord. The integrity of the cytoskeleton and mitochondria of motor neurons plays a crucial role in maintaining axonal stability, transport, and signaling between neurons. The formation of protein aggregates and mitochondrial dysfunction are shared pathological features in ALS, Alzheimer's disease, Parkinson's disease, Huntington's disease, and Charcot-Marie-Tooth disease.
TRANSLATIONAL NEURODEGENERATION
(2021)
Article
Biochemistry & Molecular Biology
Sungtaek Oh, Yura Jang, Chan Hyun Na
Summary: This study used discovery-based approaches and quantitative comparative analyses to identify differential proteins in the cerebrospinal fluid (CSF) of patients with ALS. They found 15 proteins that showed significant differences between ALS and the control group, providing a foundation for biomarker research in ALS.
Article
Biochemistry & Molecular Biology
Luyang Xiong, Michael McCoy, Hitoshi Komuro, Xiaoxia Z. West, Valentin Yakubenko, Detao Gao, Tejasvi Dudiki, Amanda Milo, Jacqueline Chen, Eugene A. Podrez, Bruce Trapp, Tatiana Byzova
Summary: ALS is a progressive neurodegenerative disease with no cure, where inflammation and oxidative stress may play a significant role, particularly in patients with the SOD1 mutation. The accumulation of CEP, a DHA peroxidation product, in ALS brains may be linked to activated inflammatory cells and reduced antioxidant activity due to the mutation, highlighting its potential as a hallmark of oxidative damage in neurodegenerative diseases.
FREE RADICAL BIOLOGY AND MEDICINE
(2022)
Article
Biochemistry & Molecular Biology
Elizabeth R. Dellar, Iolanda Vendrell, Kevin Talbot, Benedikt M. Kessler, Roman Fischer, Martin R. Turner, Alexander G. Thompson
Summary: This study used mass spectrometry with library-free data-independent acquisition to analyze the CSF proteome of ALS patients. It identified proteins correlated with clinical variables and strengthened the candidacy of CHIT1 and UCHL1 as biomarkers for ALS. The study also highlighted inflammatory and endoplasmic reticulum proteins as potential prognostic biomarkers.
JOURNAL OF NEUROCHEMISTRY
(2023)
Article
Clinical Neurology
Philippe Corcia, Pascal Lejeune, Patrick Vourc'h, Stephane Beltran, Anne-Sophie Piegay, Helene Blasco, Vincent Meininger
Summary: This study characterized the prototypical phenotype of patients with amyotrophic lateral sclerosis (ALS) associated with PFN1 mutations and identified clinical indications for testing mutations in this gene. The main clinical findings for familial ALS linked to PFN1 were identified as pedigrees with over five cases, an onset age around 50 years, onset in the lower limbs, and the absence of cognitive impairment. The similarities with other ALS mutations prompt a review of ALS classifications based on both phenotype and genotype.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Review
Cell Biology
T. J. Tracey, S. E. Kirk, F. J. Steyn, S. T. Ngo
Summary: Lipids are essential for cellular health and maintenance in the central nervous system (CNS), playing roles in structural integrity, signaling, and metabolism. Changes in lipid metabolism in neurodegenerative diseases, such as amyotrophic lateral sclerosis (ALS), can impact key cellular processes, warranting further research.
SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY
(2021)
Article
Medicine, Research & Experimental
Guzel F. Zakyrjanova, Arthur R. Giniatullin, Kamilla A. Mukhutdinova, Eva A. Kuznetsova, Alexey M. Petrov
Summary: The study suggests that disruptions in membrane lipids at neuromuscular junctions could be an early event in ALS, with ceramide accumulation potentially triggering neuromuscular abnormalities. The cholesterol derivative 25-hydroxycholesterol may be a promising molecule for restoring membrane and functional properties at the early stage of the disease.
Article
Pharmacology & Pharmacy
Gabriel Rodrigues Coutinho Pereira, Barbara de Azevedo Abrahim-Vieira, Joelma Freire de Mesquita
Summary: Amyotrophic lateral sclerosis (ALS) is a prevalent motor neuron disorder in adults, currently with no cure. SOD1 binding ligand 1 (SBL-1) has shown potential in inhibiting the oxidation of a critical residue for SOD1 aggregation, a central event in ALS-related neurodegeneration. Molecular dynamics simulations revealed stable interactions between SOD1 and SBL-1, suggesting that SBL-1's mechanism of action and binding affinity may be preserved in A4V and D90A mutations. In silico evaluations also demonstrated that SBL-1 had drug-like characteristics and low toxicity. Therefore, SBL-1 could be a promising strategy to treat ALS, including for patients with frequent mutations.
Review
Clinical Neurology
Thomas H. Julian, Sarah Boddy, Mahjabin Islam, Julian Kurz, Katherine J. Whittaker, Tobias Moll, Calum Harvey, Sai Zhang, Michael P. Snyder, Christopher McDermott, Johnathan Cooper-Knock, Pamela J. Shaw
Summary: Mendelian randomization studies on amyotrophic lateral sclerosis show a causal link between blood lipids and the disease risk, while factors like smoking and immune function require further investigation for confirmation. The use of high methodological standards and replication across different datasets are essential for reliable results in Mendelian randomization studies.
Article
Pharmacology & Pharmacy
Yijun Pan, Yoshiteru Kagawa, Jiaqi Sun, Bradley J. Turner, Cheng Huang, Anup D. Shah, Ralf B. Schittenhelm, Joseph A. Nicolazzo
Summary: This study characterized BBB transporter expression and function in a transgenic ALS model and found altered BBB function, indicating implications for drug delivery to the brain.
Review
Medicine, General & Internal
Can Cui, Jiangwei Sun, Kyla A. McKay, Caroline Ingre, Fang Fang
Summary: This systematic review investigated the association between medication use and ALS risk, and found no strong evidence linking any medication use with the risk of ALS.
Article
Neurosciences
Shuangwu Liu, Yuying Zhao, Qingguo Ren, Dong Zhang, Kai Shao, Pengfei Lin, Ying Yuan, Tingjun Dai, Yongqing Zhang, Ling Li, Wei Li, Peiyan Shan, Xiangshui Meng, Qian Wang, Chuanzhu Yan
Summary: This study investigated amygdala abnormalities in ALS patients, revealing distinct patterns at different clinical disease stages and highlighting their impact on anxiety and cognitive dysfunction.
HUMAN BRAIN MAPPING
(2022)
Article
Clinical Neurology
Jozsef Gal, Jing Chen, Yuriko Katsumata, David W. Fardo, Wang-Xia Wang, Sergey Artiushin, Douglas Price, Sonya Anderson, Ela Patel, Haining Zhu, Peter T. Nelson
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2018)
Article
Biochemistry & Molecular Biology
Liqing Li, Tomasz Kolodziej, Naser Jafari, Jing Chen, Haining Zhu, Zenon Rajfur, Cai Huang
Article
Biochemistry & Molecular Biology
Sanjit K. Dhar, Vasudevan Bakthavatchalu, Bithika Dhar, Jing Chen, Izumi Tadahide, Haining Zhu, Tianyan Gao, Daret K. St Clair
Article
Multidisciplinary Sciences
Marisa Kamelgarn, Jing Chen, Lisha Kuang, Huan Jin, Edward J. Kasarskis, Haining Zhu
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
(2018)
Article
Clinical Neurology
Shon A. Koren, Matthew J. Hamm, Shelby E. Meier, Blaine E. Weiss, Grant K. Nation, Emad A. Chishti, Juan Pablo Arango, Jing Chen, Haining Zhu, Eric M. Blalock, Jose F. Abisambra
ACTA NEUROPATHOLOGICA
(2019)
Article
Multidisciplinary Sciences
Yanqi Xie, Liliia M. Kril, Tianxin Yu, Wen Zhang, Mykhaylo S. Frasinyuk, Svitlana P. Bondarenko, Kostyantyn M. Kondratyuk, Elizabeth Hausman, Zachary M. Martin, Przemyslaw P. Wyrebek, Xifu Liu, Agripina Deaciuc, Linda P. Dwoskin, Jing Chen, Haining Zhu, Chang-Guo Zhan, Vitaliy M. Sviripa, Jessica Blackburn, David S. Watt, Chunming Liu
SCIENTIFIC REPORTS
(2019)
Article
Biochemistry & Molecular Biology
Brandon L. Jutras, Christina R. Savage, William K. Arnold, Kathryn G. Lethbridge, Dustin W. Carroll, Kit Tilly, Aaron Bestor, Haining Zhu, Janakiram Seshu, Wolfram R. Zuckert, Philip E. Stewart, Patricia A. Rosa, Catherine A. Brissette, Brian Stevenson
MOLECULAR MICROBIOLOGY
(2019)
Article
Hematology
Jianing Li, Sonja S. Pijut, Yuhuan Wang, Ailing Ji, Rupinder Kaur, Ryan E. Temel, Deneys R. van der Westhuyzen, Gregory A. Graf
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2019)
Review
Biochemistry & Molecular Biology
Aiman A. Zein, Rupinder Kaur, Toka O. K. Hussein, Gregory A. Graf, Jyh-Yeuan Lee
BIOCHEMICAL SOCIETY TRANSACTIONS
(2019)
Article
Biochemistry & Molecular Biology
Hannah C. Lifsey, Rupinder Kaur, Bradley H. Thompson, Lisa Bennett, Ryan E. Temel, Gregory A. Graf
JOURNAL OF NUTRITIONAL BIOCHEMISTRY
(2020)
Review
Biochemistry & Molecular Biology
Kori Williams, Allison Segard, Gregory A. Graf
Summary: Sitosterolemia is a lipid disorder characterized by accumulation of dietary xenosterols due to mutations in ABCG5 or ABCG8 genes. Research over the past twenty years has uncovered a larger number of carriers with mutations in ABCG5 ABCG8, but the effects of these variants on G5G8 structure and activity are still largely unknown.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Hematology
Naofumi Amioka, Chia-Hua Wu, Hisashi Sawada, Sohei Ito, Alex C. Pettey, Congqing Wu, Jessica J. Moorleghen, Deborah A. Howatt, Gregory A. Graf, Craig W. Vander Kooi, Alan Daugherty, Hong S. Lu
Summary: Angiotensinogen (AGT), an essential component in the renin-angiotensin system, was studied in this research. It was found that mutations in the conserved sequences in either the loop or β-sheet region individually had no effect on AGT regulation. However, mutations in conserved sequences in both regions synergistically contributed to the secretion of AGT from hepatocytes.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Qing Ye, Yinan Zhang, Yanan Cao, Xiachang Wang, Yubin Guo, Jing Chen, Jamie Horn, Larissa Ponomareva, Luksana Chaiswing, Khaled A. Shaaban, Qiou Wei, Bradley D. Anderson, Daret K. St Clair, Haining Zhu, Markos Leggas, Jon S. Thorson, Qing-Bai She
CELL CHEMICAL BIOLOGY
(2019)
Meeting Abstract
Clinical Neurology
Peter Nelson, Haining Zhu, Jozsef Gal
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY
(2018)
Article
Oncology
Chontida Yarana, Dustin Carroll, Jing Chen, Luksana Chaiswing, Yanming Zhao, Teresa Noel, Michael Alstott, Younsoo Bae, Emily V. Dressler, Jeffrey A. Moscow, D. Allan Butterfield, Haining Zhu, Daret K. St Clair
CLINICAL CANCER RESEARCH
(2018)