Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Kang-Fu Yin, Ting Chen, Xiao-Jing Gu, Zheng Jiang, Wei-Ming Su, Qing-Qing Duan, Xiang-Jin Wen, Bei Cao, Ju-Rong Li, Li-Yi Chi, Yong-Ping Che. Identification of Potential Causal Genes for Neurodegenerative Diseases by Mitochondria-Related Genome-Wide Mendelian Randomization. Molecular neurobiology. 2024-09-30. PMID:39347895. |
through the integration of summary statistics from expression quantitative trait loci (eqtl) datasets (human blood and brain tissue), mitochondrial dna copy number (mtdna-cn), and genome-wide association studies (gwas) datasets of five ndds from european ancestry, we conducted a mendelian randomization (mr) analysis to explore the potential causal relationship between mitochondrial-related genes and alzheimer's disease (ad), parkinson's disease (pd), amyotrophic lateral sclerosis (als), frontotemporal dementia (ftd), and lewy body dementia (lbd). |
2024-09-30 |
2024-10-02 |
human |
Jonathan Plessis-Belair, Kathryn Ravano, Ellen Han, Aubrey Janniello, Catalina Molina, Roger B She. NEMF mutations in mice illustrate how Importin-β specific nuclear transport defects recapitulate neurodegenerative disease hallmarks. PLoS genetics. vol 20. issue 9. 2024-09-23. PMID:39312574. |
pathological disruption of nucleocytoplasmic transport (nct), such as the mis-localization of nuclear pore complex proteins (nups), nuclear transport receptors, ran-gtpase, and rangap1, are seen in both animal models and in familial and sporadic forms of amyotrophic lateral sclerosis (als), frontal temporal dementia and frontal temporal lobar degeneration (ftdtld), and alzheimer's and alzheimer's related dementias (ad/adrd). |
2024-09-23 |
2024-09-26 |
mouse |
Inge R Holtman, Christopher K Glass, Alexi Not. Interpretation of Neurodegenerative GWAS Risk Alleles in Microglia and their Interplay with Other Cell Types. Advances in neurobiology. vol 37. 2024-08-29. PMID:39207711. |
gwas studies implicate microglia in the pathogenesis of alzheimer's disease (ad), parkinson's disease (pd), multiple sclerosis (ms), and to a lesser degree suggest a role for microglia in vascular dementia (vad), frontotemporal dementia (ftd), and amyotrophic lateral sclerosis (als), and other neurodegenerative and neuropsychiatric disorders. |
2024-08-29 |
2024-09-04 |
Not clear |
Aya Ikeda, Hongrui Meng, Daisuke Taniguchi, Muneyo Mio, Manabu Funayama, Kenya Nishioka, Mari Yoshida, Yuanzhe Li, Hiroyo Yoshino, Tsuyoshi Inoshita, Kahori Shiba-Fukushima, Yohei Okubo, Takashi Sakurai, Taku Amo, Ikuko Aiba, Yufuko Saito, Yuko Saito, Shigeo Murayama, Naoki Atsuta, Ryoichi Nakamura, Genki Tohnai, Yuishin Izumi, Mitsuya Morita, Asako Tamura, Osamu Kano, Masaya Oda, Satoshi Kuwabara, Toru Yamashita, Jun Sone, Ryuji Kaji, Gen Sobue, Yuzuru Imai, Nobutaka Hattor. CHCHD2 P14L, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters Ca PNAS nexus. vol 3. issue 8. 2024-08-12. PMID:39131911. |
chchd2 p14l, found in amyotrophic lateral sclerosis, exhibits cytoplasmic mislocalization and alters ca chchd2 and chchd10, linked to parkinson's disease and amyotrophic lateral sclerosis-frontotemporal dementia (als), respectively, are mitochondrial intermembrane proteins that form a heterodimer. |
2024-08-12 |
2024-08-14 |
Not clear |
Cui Yang, Guangdong Liu, Xi Chen, Weidong L. Cerebellum in Alzheimer's disease and other neurodegenerative diseases: an emerging research frontier. MedComm. vol 5. issue 7. 2024-07-16. PMID:39006764. |
alzheimer's disease (ad), alongside other dementias such as vascular dementia (vad), lewy body dementia (dlb), and frontotemporal dementia (ftd), as well as other neurodegenerative diseases (nds) like parkinson's disease (pd), amyotrophic lateral sclerosis (als), huntington's disease (hd), and spinocerebellar ataxias (sca), are characterized by specific and non-specific neurodegenerations in central nervous system. |
2024-07-16 |
2024-07-18 |
Not clear |
Shuang He, Xin-Xin He, Hong-Qi Yang, Jie-Wen Zhang, Shuai Che. Two new cases with the UBQLN2 gene mutation in Han Chinese. Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 2024-06-28. PMID:38943019. |
variations in the ubqln2 gene are associated with a group of diseases with x-linked dominant inheritance and clinical phenotypes of amyotrophic lateral sclerosis (als) and/or frontal temporal lobe dementia (ftd). |
2024-06-28 |
2024-07-01 |
Not clear |
Mehdi Benkirane, Marion Bonhomme, Heba Morsy, Stephanie L Safgren, Cecilia Marelli, Annabelle Chaussenot, Damian Smedley, Valentina Cipriani, Jean-Madeleine de Sainte-Agathe, Can Ding, Lise Larrieu, Letizia Vestito, Henri Margot, Gaetan Lesca, Francis Ramond, Anna Castrioto, David Baux, Jan Verheijen, Emna Sansa, Paola Giunti, Aline Haetty, Anne Bergougnoux, Morgane Pointaux, Olivier Ardouin, Charles Van Goethem, Marie-Claire Vincent, Marios Hadjivassiliou, Mireille Cossée, Tiphaine Rouaud, Oliver Bartsch, William D Freeman, Klaas J Wierenga, Eric W Klee, Jana Vandrovcova, Henry Houlden, Anne Debant, Michel Koeni. De novo and inherited monoallelic variants in TUBA4A cause ataxia and spasticity. Brain : a journal of neurology. 2024-06-17. PMID:38884572. |
alpha-tubulin 4a encoding gene (tuba4a) has been associated with familial amyotrophic lateral sclerosis (fals) and fronto-temporal dementia (ftd), based on identification of likely pathogenic variants in patients from distinct als and ftd cohorts. |
2024-06-17 |
2024-06-19 |
Not clear |
C Sellier, P Corcia, P Vourc'h, L Dupui. C9ORF72 hexanucleotide repeat expansion: From ALS and FTD to a broader pathogenic role? Revue neurologique. 2024-04-12. PMID:38609750. |
the major gene underlying monogenic forms of amyotrophic lateral sclerosis (als) and fronto-temporal dementia (ftd) is c9orf72. |
2024-04-12 |
2024-04-15 |
Not clear |
Veronika Pak, Quadri Adewale, Danilo Bzdok, Mahsa Dadar, Yashar Zeighami, Yasser Iturria-Medin. Distinctive whole-brain cell types predict tissue damage patterns in thirteen neurodegenerative conditions. eLife. vol 12. 2024-03-21. PMID:38512130. |
by unifying spatial gene expression, structural mri, and cell deconvolution, here we describe how the human brain distribution of canonical cell types extensively predicts tissue damage in 13 neurodegenerative conditions, including early- and late-onset alzheimer's disease, parkinson's disease, dementia with lewy bodies, amyotrophic lateral sclerosis, mutations in presenilin-1, and 3 clinical variants of frontotemporal lobar degeneration (behavioral variant, semantic and non-fluent primary progressive aphasia) along with associated three-repeat and four-repeat tauopathies and tdp43 proteinopathies types a and c. we reconstructed comprehensive whole-brain reference maps of cellular abundance for six major cell types and identified characteristic axes of spatial overlapping with atrophy. |
2024-03-21 |
2024-03-23 |
human |
Carmelo Milioto, Mireia Carcolé, Ashling Giblin, Rachel Coneys, Olivia Attrebi, Mhoriam Ahmed, Samuel S Harris, Byung Il Lee, Mengke Yang, Robert A Ellingford, Raja S Nirujogi, Daniel Biggs, Sally Salomonsson, Matteo Zanovello, Paula de Oliveira, Eszter Katona, Idoia Glaria, Alla Mikheenko, Bethany Geary, Evan Udine, Deniz Vaizoglu, Sharifah Anoar, Khrisha Jotangiya, Gerard Crowley, Demelza M Smeeth, Mirjam L Adams, Teresa Niccoli, Rosa Rademakers, Marka van Blitterswijk, Anny Devoy, Soyon Hong, Linda Partridge, Alyssa N Coyne, Pietro Fratta, Dario R Alessi, Ben Davies, Marc Aurel Busche, Linda Greensmith, Elizabeth M C Fisher, Adrian M Isaac. PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons. Nature neuroscience. 2024-02-29. PMID:38424324. |
dipeptide repeat proteins are a major pathogenic feature of c9orf72 amyotrophic lateral sclerosis (c9als)/frontotemporal dementia (ftd) pathology, but their physiological impact has yet to be fully determined. |
2024-02-29 |
2024-03-03 |
mouse |
Igor Y Iskusnykh, Anastasia A Zakharova, Evgenii D Kryl'skii, Tatyana N Popov. Aging, Neurodegenerative Disorders, and Cerebellum. International journal of molecular sciences. vol 25. issue 2. 2024-01-23. PMID:38256091. |
diminished cerebellar function results in the motor and cognitive impairment observed in patients with neurodegenerative disorders such as alzheimer's disease (ad), vascular dementia (vd), parkinson's disease (pd), huntington's disease (hd), spinal muscular atrophy (sma), amyotrophic lateral sclerosis (als), friedreich's ataxia (frda), and multiple sclerosis (ms), and even during the normal aging process. |
2024-01-23 |
2024-01-25 |
Not clear |
Tian Liu, Liam Wetzel, Zexi Zhu, Pavan Kumaraguru, Viraj Gorthi, Yan Yan, Mohammed Zaheen Bukhari, Aizara Ermekbaeva, Hanna Jeon, Teresa R Kee, Jung-A Alexa Woo, David E Kan. Disruption of Mitophagy Flux through the PARL-PINK1 Pathway by CHCHD10 Mutations or CHCHD10 Depletion. Cells. vol 12. issue 24. 2023-12-22. PMID:38132101. |
coiled-coil-helix-coiled-coil-helix domain-containing 10 (chchd10) is a nuclear-encoded mitochondrial protein which is primarily mutated in the spectrum of familial and sporadic amyotrophic lateral sclerosis (als)-frontotemporal dementia (ftd). |
2023-12-22 |
2023-12-24 |
Not clear |
Chengchen Zhang, Fei Deng, Yi Li, Tim Hall, Ewa Goldy. Paper-based lateral flow assay for the point-of-care detection of neurofilament light chain. Annual International Conference of the IEEE Engineering in Medicine and Biology Society. IEEE Engineering in Medicine and Biology Society. Annual International Conference. vol 2023. 2023-12-12. PMID:38082598. |
with its ease of use and reliability, the paper-based lfa is a valuable tool for the diagnosis and management of neurological conditions.clinical relevance- the auns-assisted lfa test strip developed in this study offers a rapid, cost-effective, and simple method for detecting nf-l levels, making it of great interest to practicing clinicians for the diagnosis of various neurological diseases such as hiv-associated dementia (hid), amyotrophic lateral sclerosis (als), and creutzfeldt-jakob disease (cjd). |
2023-12-12 |
2023-12-17 |
Not clear |
Emily Simmonds, Kristin S Levine, Jun Han, Hirotaka Iwaki, Mathew J Koretsky, Nicole Kuznetsov, Faraz Faghri, Caroline Warly Solsberg, Artur Schuh, Lietsel Jones, Sara Bandres-Ciga, Cornelis Blauwendraat, Andrew Singleton, Valentina Escott-Price, Hampton L Leonard, Mike A Nall. Sleep disturbances as risk factors for neurodegeneration later in life. medRxiv : the preprint server for health sciences. 2023-11-21. PMID:37986827. |
we found that sleep disorders such as sleep apnea were associated with the risk of alzheimer's disease (ad), amyotrophic lateral sclerosis, dementia, parkinson's disease (pd), and vascular dementia in three national scale biobanks, with hazard ratios (hrs) ranging from 1.31 for pd to 5.11 for dementia. |
2023-11-21 |
2023-11-29 |
Not clear |
Courtney N Johnson, Kandarp A Sojitra, Erich J Sohn, Alma K Moreno-Romero, Antoine Baudin, Xiaoping Xu, Jeetain Mittal, David S Libic. Insights into Molecular Diversity within the FET Family: Unraveling Phase Separation of the N-Terminal Low Complexity Domain from RNA-Binding Protein EWS. bioRxiv : the preprint server for biology. 2023-11-14. PMID:37961424. |
furthermore, point mutations in fus and taf15 are associated with neurodegenerative conditions like amyotrophic lateral sclerosis and frontotemporal lobar dementia. |
2023-11-14 |
2023-11-20 |
Not clear |
Feng-Ling You, Gao-Fu Xia, Jing Ca. Behavioural Variant Frontotemporal Dementia due to Current Alzheimer research. vol 20. issue 5. 2023-10-24. PMID:37872794. |
behavioural variant frontotemporal dementia due to frontal, temporal lobe dementia (ftd) and amyotrophic lateral sclerosis (als) are fatal neurodegenerative diseases. |
2023-10-24 |
2023-11-08 |
Not clear |
Lucreția Anghel, Anamaria Ciubară, Aurel Nechita, Luiza Nechita, Corina Manole, Liliana Baroiu, Alexandru Bogdan Ciubară, Carmina Liana Mușa. Sleep Disorders Associated with Neurodegenerative Diseases. Diagnostics (Basel, Switzerland). vol 13. issue 18. 2023-09-28. PMID:37761265. |
sleep disturbances are common in various neurological pathologies, including amyotrophic lateral sclerosis (als), multiple system atrophy (msa), hereditary ataxias, huntington's disease (hd), progressive supranuclear palsy (psp), and dementia with lewy bodies (dlb). |
2023-09-28 |
2023-10-07 |
Not clear |
Chao Gao, Jingwen Jiang, Yuyan Tan, Shengdi Che. Microglia in neurodegenerative diseases: mechanism and potential therapeutic targets. Signal transduction and targeted therapy. vol 8. issue 1. 2023-09-22. PMID:37735487. |
here we comprehensively review the biology of microglia and the roles of microglia in neurodegenerative diseases, including alzheimer's disease, parkinson's disease, multiple system atrophy, amyotrophic lateral sclerosis, frontotemporal dementia, progressive supranuclear palsy, corticobasal degeneration, dementia with lewy bodies and huntington's disease. |
2023-09-22 |
2023-10-07 |
Not clear |
Wei-Shi Liu, Ya-Ru Zhang, Yi-Jun Ge, Hui-Fu Wang, Wei Cheng, Jin-Tai Y. Inflammation and Brain Structure in Alzheimer's Disease and Other Neurodegenerative Disorders: a Mendelian Randomization Study. Molecular neurobiology. 2023-09-22. PMID:37736795. |
neurodegenerative disorders including alzheimer's disease (ad), parkinson's disease (pd), amyotrophic lateral sclerosis (als), and dementia with lewy bodies (dlb) and brain structure imaging measures were selected as the outcomes. |
2023-09-22 |
2023-10-07 |
Not clear |
Lin Guo, Jacob R Mann, Jocelyn C Mauna, Katie E Copley, Hejia Wang, Jack D Rubien, Hana M Odeh, JiaBei Lin, Bo Lim Lee, Laura Ganser, Emma Robinson, Kevin M Kim, Anastasia C Murthy, Tapas Paul, Bede Portz, Amanda M Gleixner, Zamia Diaz, Jenny L Carey, Ashleigh Smirnov, George Padilla, Ellen Lavorando, Carolann Espy, Yulei Shang, Eric J Huang, Alessandra Chesi, Nicolas L Fawzi, Sua Myong, Christopher J Donnelly, James Shorte. Defining RNA oligonucleotides that reverse deleterious phase transitions of RNA-binding proteins with prion-like domains. bioRxiv : the preprint server for biology. 2023-09-21. PMID:37732211. |
rna-binding proteins with prion-like domains, such as fus and tdp-43, condense into functional liquids, which can transform into pathological fibrils that underpin fatal neurodegenerative disorders, including amyotrophic lateral sclerosis (als)/frontotemporal dementia (ftd). |
2023-09-21 |
2023-10-07 |
human |