Results 11 to 20 of about 636,708 (294)

Human tauopathy strains defined by phosphorylation in R1-R2 repeat domains of tau

Acta Neuropathologica Communications, 2023
Distinctive post-translational modifications (PTM) characterize tau inclusions found in tauopathy patients. Using detergent-insoluble tau isolated from Alzheimer’s disease (AD-tau) or Progressive Supranuclear Palsy (PSP-tau) patients, we provide insights
Ethan D. Smith, Quan Vo, Benoit I. Giasson, David R. Borchelt, Stefan Prokop, Paramita Chakrabarty   +5 more
doaj   +1 more source

Disease Knowledge Transfer across Neurodegenerative Diseases [PDF]

, 2019
We introduce Disease Knowledge Transfer (DKT), a novel technique for transferring biomarker information between related neurodegenerative diseases. DKT infers robust multimodal biomarker trajectories in rare neurodegenerative diseases even when only ...
Alexander, Daniel C., Blumberg, Stefano B., Crutch, Sebastian J., Eshaghi, Arman, Golland, Polina, Lorenzi, Marco, Marinescu, Razvan V., Morell, Pere P., Oxtoby, Neil P., Yong, Keir X., Young, Alexandra L.   +10 more
core   +4 more sources

Analysis of spinal and muscle pathology in transgenic mice overexpressing wild-type and ALS-linked mutant MATR3

Acta Neuropathologica Communications, 2018
Mutations in MATR3 have been associated with amyotrophic lateral sclerosis (ALS) as well as a form of distal myopathy termed vocal cord pharyngeal distal myopathy (VCPDM).
Christina Moloney, Sruti Rayaprolu, John Howard, Susan Fromholt, Hilda Brown, Matt Collins, Mariela Cabrera, Colin Duffy, Zoe Siemienski, Dave Miller, David R. Borchelt, Jada Lewis   +11 more
doaj   +1 more source

DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1 [PDF]

, 2007
DNA single-strand breaks (SSBs) are the commonest DNA lesions arising spontaneously in cells, and if not repaired may block transcription or may be converted into potentially lethal/clastogenic DNA double-strand breaks (DSBs).
Arnaudeau, Avemann, Barzilai, Bendixen, Caldecott, Caldecott, Cheng, Chrencik, Christiansen, Clements, Connelly, Culmsee, Daroui, Date, Davies, Davies, Davies, de Boer, Deng, D’Arpa, El-Khamisy, Flangas, Furuta, Godthelp, Hinz, Holm, Horwitz, Hsiang, Inamdar, Interthal, Interthal, Interthal, K.W. Caldecott, Kroeger, Lanza, Lesher, Liao, Lindahl, Liu, Mol, Moreira, Morris, Nitiss, Nouspikel, O’Driscoll, Parsons, Plo, Pommier, Pommier, Pommier, Poot, Pouliot, Pouliot, Pourquier, Pourquier, Pourquier, Pourquier, Pourquier, Rideout, Ryan, Ryan, S.F. El-Khamisy, Sarkander, Sarkander, Shao, Stewart, Strumberg, Takashima, Taylor, Thompson, van Waardenburg, Vance, Vidal, Vierck, Wang, Whitehouse, Wilson, Wu, Wu, Yan, Yang, Zhou, Zhou   +82 more
core   +1 more source

Parkinson's disease: autoimmunity and neuroinflammation [PDF]

, 2016
Parkinson's disease is a neurodegenerative disease that causes the death of dopaminergic neurons in the substantia nigra. The resulting dopamine deficiency in the basal ganglia leads to a movement disorder that is characterized by classical parkinsonian ...
CINIGLIO APPIANI, MARIO, CONTE, MICHELA, DE VINCENTIIS, Marco, DE VIRGILIO, ARMANDO, FABBRINI, Giovanni, GALLO, Andrea, GRECO, Antonio, INGHILLERI, Maurizio, RIZZO, MARIA IDA, ROSATO, CHIARA   +9 more
core   +1 more source

Retraction Note: Transgenic mice overexpressing the ALS-linked protein Matrin 3 develop a profound muscle phenotype

Acta Neuropathologica Communications, 2017
The authors are retracting this article. The article describes mice expressing wild-type human MATR3. However, since publication the authors have become aware that all of the lines of mice described express human MATR3 containing the F115C mutation ...
Christina Moloney, Sruti Rayaprolu, John Howard, Susan Fromholt, Hilda Brown, Matt Collins, Mariela Cabrera, Colin Duffy, Zoe Siemienski, Dave Miller, Maurice S. Swanson, Lucia Notterpek, David R. Borchelt, Jada Lewis   +13 more
doaj   +1 more source

Deletion of Abi3/Gngt2 influences age-progressive amyloid β and tau pathologies in distinctive ways

Alzheimer’s Research & Therapy, 2022
Background The S209F variant of Abelson Interactor Protein 3 (ABI3) increases risk for Alzheimer’s disease (AD), but little is known about its function in relation to AD pathogenesis.
Kristen R. Ibanez, Karen N. McFarland, Jennifer Phillips, Mariet Allen, Christian B. Lessard, Lillian Zobel, Elsa Gonzalez De La Cruz, Shivani Shah, Quan Vo, Xue Wang, Zachary Quicksall, Daniel Ryu, Cory Funk, Nilüfer Ertekin-Taner, Stefan Prokop, Todd E. Golde, Paramita Chakrabarty   +16 more
doaj   +1 more source

Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases [PDF]

, 2009
Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial ...
Alexander, Baloyannis, Banchs, Bossy-Wetzel, Brockmann, Cassidy-Stone, Chang, Chen, Cho, Clark, D. C. Chan, de Brito, Delettre, Dodson, Exner, Fransson, Frezza, Gispert, H. Chen, Hollenbeck, Kim, Kim, Li, Liot, Lustbader, Macaskill, Meeusen, Milone, Mortiboys, Okamoto, Orr, Park, Parone, Popp, Reis, Suen, Ten Dijke, Trushina, Wang, Waterham, Wood-Kaczmar, Zuchner, Z  chner   +42 more
core   +3 more sources

Neurodegenerative diseases: challenges [PDF]

Drug Delivery and Translational Research, 2011
Diseases of the aging brain—including Alzheimer’s, Parkinson’s, and Huntington’s—affect the lives of millions and pose a growing threat to public health. These diseases occur as a result of neurodegenerative processes involving the progressive loss of structure or function of neurons, including death of neurons.
openaire   +2 more sources

Lessons learned about [F-18]-AV-1451 off-target binding from an autopsy-confirmed Parkinson’s case

Acta Neuropathologica Communications, 2017
[F-18]-AV-1451 is a novel positron emission tomography (PET) tracer with high affinity to neurofibrillary tau pathology in Alzheimer’s disease (AD). PET studies have shown increased tracer retention in patients clinically diagnosed with dementia of AD ...
Marta Marquié, Eline E. Verwer, Avery C. Meltzer, Sally Ji Who Kim, Cinthya Agüero, Jose Gonzalez, Sara J. Makaretz, Michael Siao Tick Chong, Prianca Ramanan, Ana C. Amaral, Marc D. Normandin, Charles R. Vanderburg, Stephen N. Gomperts, Keith A. Johnson, Matthew P. Frosch, Teresa Gómez-Isla   +15 more
doaj   +1 more source