Gain-of-function ANXA11 mutation cause late-onset ALS with aberrant protein aggregation, neuroinflammation and autophagy impairment

Authors: Qing Liu, Ye Sun, Baodong He, Haodong Chen, Lijing Wang, Gaojie Wang, Kang Zhang, Ximeng Zhao, Xinzhe Zhang, Dongchao Shen, Xue Zhang, Liying Cui

Source: Acta Neuropathologica Communications, Vol 13, Iss 1, Pp 1-18 (2025)

Subject Terms: ANXA11, Amyotrophic lateral sclerosis, Mouse model, TDP-43 proteinopathy, Neuroinflammation, Autophagy, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2051-5960

Access URL: https://doaj.org/article/e5ac6ca65c23420b8d25cc983cc4e795

N88S seipin-related seipinopathy is a lipidopathy associated with loss of iron homeostasis

Authors: Mariana O. Ribeiro, Mafalda Oliveira, Verónica Nogueira, Vítor Costa, Vitor Teixeira

Source: Cell Communication and Signaling, Vol 23, Iss 1, Pp 1-29 (2025)

Subject Terms: Lipid droplet, Seipin, Misfolding, Seipinopathy, Lipidopathy, Proteinopathy, Medicine, Cytology, QH573-671

File Description: electronic resource

Relation: https://doaj.org/toc/1478-811X

Access URL: https://doaj.org/article/56b89b890400405bbfcdf23bec285a49

C9ORF72 poly-PR induces TDP-43 nuclear condensation via NEAT1 and is modulated by HSP70 activity

Authors: Agnihotri, Diksha ^{1, 2, 3}, Lee, Chi-Chang ¹, Lu, Po-Chao ^{1, 7, 8}, He, Ruei-Yu ¹, Huang, Yung-An ¹, Kuo, Hung-Chih ^{6, 9, 10}, Huang, Joseph Jen-Tse ^{1, 4, 5, 6, 11, ∗}

Source: In Cell Reports 28 January 2025 44(1)

Elucidating the pathobiology of Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS) with its expanded RNA structure formation and proteinopathy

Authors: Krishna Singh, Sakshi Shukla, Uma Shankar, Neha Jain, Rishav Nag, Kumari Aditi Pramod, Amit Kumar

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-17 (2024)

Subject Terms: CANVAS, RFC1, Proteinopathy, Repeat expansions, RNA r(AAGGG)n, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/3d2ab25dc6784cbcafce36f464afde38

Glymphatic dysfunction and neurodegeneration in ALS: Longitudinal insights from rNLS8 TDP-43 mice

Authors: Akram Zamani, Adam K. Walker, David K. Wright

Source: Neurobiology of Disease, Vol 206, Iss , Pp 106832- (2025)

Subject Terms: Motor neuron disease, Proteinopathy, Waste clearance, Diffusion weighted imaging, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996125000488; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/040cb5a0e32b4d59a9d4a05fb190370f

TDP-43 as a potential retinal biomarker for neurodegenerative diseases

Authors: Margit Glashutter, Printha Wijesinghe, Joanne A. Matsubara

Source: Frontiers in Neuroscience, Vol 19 (2025)

Subject Terms: TDP-43 proteinopathy, neurodegenerative disease, biomarker, retina, eye, brain, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fnins.2025.1533045/full; https://doaj.org/toc/1662-453X

Access URL: https://doaj.org/article/c8992ee46c1942a7a7ae7fb33a641872

Understanding the Role of Inflammation in ALS-FTSD: A systematic Review and Meta-analysis Investigating the Relationship between Inflammation and Amyotrophic Lateral Sclerosis and Frontotemporal Spectrum Disorder.

Authors: Scott Purdie, William Daley, Fergal Waldron, Jenna Gregory

Source: International Journal of Medical Students, Vol 12 (2025)

Subject Terms: ALS, Inflammation, C9orf72, Proteinopathy TDP43, FUS Protein, Medicine (General), R5-920, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: http://ijms.info/IJMS/article/view/2955; https://doaj.org/toc/2076-6327

Access URL: https://doaj.org/article/db1b16f6987f4534bccdb650c708ab5a

2024 VCP International Conference: Exploring multi-disciplinary approaches from basic science of valosin containing protein, an AAA+ ATPase protein, to the therapeutic advancement for VCP-associated multisystem proteinopathy

Authors: A. Peck, A. Dadi, Z. Yavarow, L.N. Alfano, D. Anderson, M.R. Arkin, T.F. Chou, E.S. D'Ambrosio, J. Diaz-Manera, J.P. Dudley, A.G. Elder, N. Ghoshal, C.E. Hart, M.M. Hart, D.M. Huryn, A.E. Johnson, K.B. Jones, V. Kimonis, E. Kiskinis, E.B. Lee, T.E. Lloyd, M. Mapstone, A. Martin, H. Meyer, T. Mozaffar, C.U. Onyike, G. Pfeffer, A. Pindon, M. Raman, I. Richard, D.C. Rubinsztein, M. Schiava, A.K. Schütz, P.S. Shen, D.R. Southworth, A.M. Staffaroni, M. Taralio-Gravovac, C.C. Weihl, Q. Yao, Y. Ye, N. Peck

Source: Neurobiology of Disease, Vol 207, Iss , Pp 106861- (2025)

Subject Terms: Valosin-containing protein (VCP), VCP/p97, VCP-MSP, Multisystem proteinopathy, Motor neuron disease, ATPase, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S0969996125000774; https://doaj.org/toc/1095-953X

Access URL: https://doaj.org/article/0449a62dc51b4ba2a41c432954ed71fa

Current concepts and molecular pathology of neurodegenerative diseases

Authors: Forrest, Shelley L. ^{1, 2, 3}, Kovacs, Gabor G. ^{1, 2, 3, 4, 5, ⁎}

Source: In Pathology March 2025 57(2):178-190

mTOR signaling controls protein aggregation during heat stress and cellular aging in a translation- and Hsf1-independent manner

Authors: Fischbach, Arthur ^∗, Widlund, Per O., Hao, Xinxin, Nyström, Thomas ^∗

Source: In Journal of Biological Chemistry February 2025 301(2)

Lycorine protects motor neurons against TDP-43 proteinopathy-induced degeneration in cross-species models with amyotrophic lateral sclerosis

Authors: Jing Wen, Yunhao Li, Yanzhu Qin, Lingli Yan, Ke Zhang, Ang Li, Ziying Wang, Feng Yu, Jianheng Lai, Wei Yang, Yong U. Liu, Dajiang Qin, Huanxing Su

Source: Pharmacological Research, Vol 210, Iss , Pp 107518- (2024)

Subject Terms: ALS, TDP-43 proteinopathy, Lycorine, UPS, Motor neurons, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S1043661824004638; https://doaj.org/toc/1096-1186

Access URL: https://doaj.org/article/e4ba3981426e4aba86d2d7d212d5061e

Adult Hydrocephalus and the Glymphatic System

Authors: Eide, Per Kristian ^{a, b, c, ∗}

Source: In Neurosurgery Clinics of North America April 2025 36(2):127-140

In vivo diagnosis of TDP-43 proteinopathies: in search of biomarkers of clinical use

Authors: Juan I. López-Carbonero, Irene García-Toledo, Laura Fernández-Hernández, Pablo Bascuñana, María J. Gil-Moreno, Jordi A. Matías-Guiu, Silvia Corrochano

Source: Translational Neurodegeneration, Vol 13, Iss 1, Pp 1-20 (2024)

Subject Terms: TDP-43 proteinopathy, Biomarkers, Early diagnosis, ALS, FTD, LATE, Neurology. Diseases of the nervous system, RC346-429

File Description: electronic resource

Relation: https://doaj.org/toc/2047-9158

Access URL: https://doaj.org/article/e463fc941f6c458eb3db83c652187611

Frontotemporal dementia-like disease progression elicited by seeded aggregation and spread of FUS

Authors: Sonia Vazquez-Sanchez, Britt Tilkin, Fatima Gasset-Rosa, Sitao Zhang, Diana Piol, Melissa McAlonis-Downes, Jonathan Artates, Noe Govea-Perez, Yana Verresen, Lin Guo, Don W. Cleveland, James Shorter, Sandrine Da Cruz

Source: Molecular Neurodegeneration, Vol 19, Iss 1, Pp 1-15 (2024)

Subject Terms: FUS-proteinopathy, Aggregation, Spreading, Amyotrophic lateral sclerosis (ALS), Frontotemporal lobar degeneration (FTLD), Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1326

Access URL: https://doaj.org/article/95638d30dda343ee9bedd62a7544c554

Progressive degeneration in a new Drosophila model of spinocerebellar ataxia type 7

Authors: Alyson Sujkowski, Bedri Ranxhi, Zoya R. Bangash, Zachary M. Chbihi, Matthew V. Prifti, Zaina Qadri, Nadir Alam, Sokol V. Todi, Wei-Ling Tsou

Source: Scientific Reports, Vol 14, Iss 1, Pp 1-12 (2024)

Subject Terms: Aggregation, Polyglutamine, Proteinopathy, Retinal degeneration, Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/2045-2322

Access URL: https://doaj.org/article/02032200ee2c45fbaad73258a23beade

Study of the neuroprotective properties of the heteroreceptor EPOR/CD131 agonist of peptide structure in tau-proteinopathy modeling

Authors: Yulia V. Stepenko, Veronika S. Shmigerova, Darya A. Kostina, Olesya V. Shcheblykina, Nina I. Zhernakova, Alexey V. Solin, Natalia V. Koroleva, Vera A. Markovskaya, Olga V. Dudnikova, Anton A. Bolgov

Source: Research Results in Pharmacology, Vol 10, Iss 2, Pp 41-47 (2024)

Subject Terms: tau-proteinopathy, neuroinflammation, post-translational modifications, frontotemporal dementia, parkinsonism, ara-290, Therapeutics. Pharmacology, RM1-950

File Description: electronic resource

Relation: https://rrpharmacology.ru/index.php/journal/article/view/492/495; https://doaj.org/toc/2658-381X

Access URL: https://doaj.org/article/748371325e0247c8bea4efff0cbc31f5

Regulation of TAR DNA binding protein 43 (TDP-43) homeostasis by cytosolic DNA accumulation

Authors: Yang, Cha ¹, Leifer, Cynthia ², Lammerding, Jan ³, Hu, Fenghua ^{1, ∗}

Source: In Journal of Biological Chemistry December 2024 300(12)

The progress and development trends on stress granules in the world and China during the past 35 years

Authors: Wenyuan Li, Yao Wang

Source: Cellular, Molecular and Biomedical Reports, Vol 4, Iss 1, Pp 17-29 (2024)

Subject Terms: autophagy-inducing kinase, bibliometric analysis, multisystem proteinopathy, non-rna-binding proteins, stress granules, Medicine

File Description: electronic resource

Relation: https://www.cmbr-journal.com/article_175510_66437f6608a047aca9fe59c84140aefb.pdf; https://doaj.org/toc/2823-2550

Access URL: https://doaj.org/article/de4d6052c45b4d5c9203cb53e4e228ce

Rapid iPSC inclusionopathy models shed light on formation, consequence, and molecular subtype of α-synuclein inclusions

Authors: Lam, Isabel ^{1, 2, 3, 28}, Ndayisaba, Alain ^{1, 2, 3, 4, 28}, Lewis, Amanda J. ⁵, Fu, YuHong ⁶, Sagredo, Giselle T. ⁶, Kuzkina, Anastasia ^{1, 2, 3}, Zaccagnini, Ludovica ⁷, Celikag, Meral ⁷, Sandoe, Jackson ⁸, Sanz, Ricardo L. ^{1, 2, 3}, Vahdatshoar, Aazam ^{1, 2}, Martin, Timothy D. ^{3, 9, 10}, Morshed, Nader ^{3, 10, 11, 12}, Ichihashi, Toru ¹³, Tripathi, Arati ^{1, 3}, Ramalingam, Nagendran ^{1, 3}, Oettgen-Suazo, Charlotte ^{1, 2}, Bartels, Theresa ⁸, Boussouf, Manel ^{1, 2}, Schäbinger, Max ^{1, 2}, Hallacli, Erinc ^{1, 2, 3}, Jiang, Xin ¹⁴, Verma, Amrita ^{1, 2}, Tea, Challana ¹⁵, Wang, Zichen ¹⁵, Hakozaki, Hiroyuki ¹⁵, Yu, Xiao ^{1, 2}, Hyles, Kelly ^{1, 2}, Park, Chansaem ^{1, 2}, Wang, Xinyuan ^{1, 2, 3}, Theunissen, Thorold W. ⁸, Wang, Haoyi ⁸, Jaenisch, Rudolf ⁸, Lindquist, Susan ^{8, 10, 29}, Stevens, Beth ^{3, 10, 11, 12}, Stefanova, Nadia ⁴, Wenning, Gregor ^{4, 29}, van de Berg, Wilma D.J. ¹⁶, Luk, Kelvin C. ¹⁷, Sanchez-Pernaute, Rosario ^{18, 19}, Gómez-Esteban, Juan Carlos ¹⁸, Felsky, Daniel ^{20, 21}, Kiyota, Yasujiro ¹³, Sahni, Nidhi ^{22, 23}, Yi, S. Stephen ²⁴, Chung, Chee Yeun ¹⁴, Stahlberg, Henning ⁵, Ferrer, Isidro ²⁵, Schöneberg, Johannes ¹⁵, Elledge, Stephen J. ^{3, 9, 10}, Dettmer, Ulf ^{1, 3}, Halliday, Glenda M. ^{6, 26}, Bartels, Tim ⁷, Khurana, Vikram ^{1, 2, 3, 12, 26, 27, 30, ∗}

Source: In Neuron 4 September 2024 112(17):2886-2909

Prion-like Spreading of Disease in TDP-43 Proteinopathies

Authors: Emma Pongrácová, Emanuele Buratti, Maurizio Romano

Source: Brain Sciences, Vol 14, Iss 11, p 1132 (2024)

Subject Terms: TDP-43, proteinopathy, prion-like, ALS, FTLD-TDP, pathological spreading, Neurosciences. Biological psychiatry. Neuropsychiatry, RC321-571

File Description: electronic resource

Relation: https://www.mdpi.com/2076-3425/14/11/1132; https://doaj.org/toc/2076-3425

Access URL: https://doaj.org/article/294feb397f1f445c9446bff5e505b1ad