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  1. Research

    Distinct functional consequences of ECEL1/DINE missense mutations in the pathogenesis of congenital contracture disorders

    Endothelin-converting enzyme-like 1 (ECEL1, also termed DINE in rodents), a membrane-bound metalloprotease, has been identified as a gene responsible for distal arthrogryposis (DA). ECEL1-mutated DA is generally ...

    Kenichi Nagata, Mika Takahashi, Sumiko Kiryu-Seo, Hiroshi Kiyama and Takaomi C. Saido

    Acta Neuropathologica Communications 2017 5:83

    Published on: 13 November 2017

  2. Research

    Lack of chronic neuroinflammation in the absence of focal hemorrhage in a rat model of low-energy blast-induced TBI

    Blast-related traumatic brain injury (TBI) has been a common cause of injury in the recent conflicts in Iraq and Afghanistan. Blast waves can damage blood vessels, neurons, and glial cells within the brain. Ac...

    Miguel A. Gama Sosa, Rita De Gasperi, Georgina S. Perez Garcia, Heidi Sosa, Courtney Searcy, Danielle Vargas, Pierce L. Janssen, Gissel M. Perez, Anna E. Tschiffely, William G. Janssen, Richard M. McCarron, Patrick R. Hof, Fatemeh G. Haghighi, Stephen T. Ahlers and Gregory A. Elder

    Acta Neuropathologica Communications 2017 5:80

    Published on: 10 November 2017

  3. Research

    Clusterin protects neurons against intracellular proteotoxicity

    It is now widely accepted in the field that the normally secreted chaperone clusterin is redirected to the cytosol during endoplasmic reticulum (ER) stress, although the physiological function(s) of this physi...

    Jenna M. Gregory, Daniel R. Whiten, Rebecca A. Brown, Teresa P. Barros, Janet R. Kumita, Justin J. Yerbury, Sandeep Satapathy, Karina McDade, Colin Smith, Leila M. Luheshi, Christopher M. Dobson and Mark R. Wilson

    Acta Neuropathologica Communications 2017 5:81

    Published on: 7 November 2017

  4. Research

    Epigenetic control of epilepsy target genes contributes to a cellular memory of epileptogenesis in cultured rat hippocampal neurons

    Hypersynchronous neuronal excitation manifests clinically as seizure (ictogenesis), and may recur spontaneously and repetitively after a variable latency period (epileptogenesis). Despite tremendous research e...

    K. Kiese, J. Jablonski, J. Hackenbracht, J. K. Wrosch, T. W. Groemer, J. Kornhuber, I. Blümcke and K. Kobow

    Acta Neuropathologica Communications 2017 5:79

    Published on: 31 October 2017

  5. Research

    Characterizing temporal genomic heterogeneity in pediatric high-grade gliomas

    Pediatric high-grade gliomas (pHGGs) are aggressive neoplasms representing approximately 20% of brain tumors in children. Current therapies offer limited disease control, and patients have a poor prognosis. Em...

    Ralph Salloum, Melissa K. McConechy, Leonie G. Mikael, Christine Fuller, Rachid Drissi, Mariko DeWire, Hamid Nikbakht, Nicolas De Jay, Xiaodan Yang, Daniel Boue, Lionel M. L. Chow, Jonathan L. Finlay, Tenzin Gayden, Jason Karamchandani, Trent R. Hummel, Randal Olshefski…

    Acta Neuropathologica Communications 2017 5:78

    Published on: 30 October 2017

  6. Research

    CRISPR/Cas9-Correctable mutation-related molecular and physiological phenotypes in iPSC-derived Alzheimer’s PSEN2 N141I neurons

    Basal forebrain cholinergic neurons (BFCNs) are believed to be one of the first cell types to be affected in all forms of AD, and their dysfunction is clinically correlated with impaired short-term memory form...

    Maitane Ortiz-Virumbrales, Cesar L. Moreno, Ilya Kruglikov, Paula Marazuela, Andrew Sproul, Samson Jacob, Matthew Zimmer, Daniel Paull, Bin Zhang, Eric E. Schadt, Michelle E. Ehrlich, Rudolph E. Tanzi, Ottavio Arancio, Scott Noggle and Sam Gandy

    Acta Neuropathologica Communications 2017 5:77

    Published on: 27 October 2017

  7. Research

    Distinct TDP-43 inclusion morphologies in frontotemporal lobar degeneration with and without amyotrophic lateral sclerosis

    The identification of the TAR DNA-binding protein 43 (TDP-43) as the ubiquitinated cytoplasmic inclusions in frontotemporal lobar degeneration (FTLD) and amyotrophic lateral sclerosis (ALS) confirmed that thes...

    Rachel H. Tan, Yue Yang, Woojin S. Kim, Carol Dobson-Stone, John B. Kwok, Matthew C. Kiernan and Glenda M. Halliday

    Acta Neuropathologica Communications 2017 5:76

    Published on: 27 October 2017

  8. Research

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

    [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 patient...

    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 and Teresa Gómez-Isla

    Acta Neuropathologica Communications 2017 5:75

    Published on: 19 October 2017

  9. Research

    Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons

    The neuronal ceroid lipofuscinoses (NCLs or Batten disease) are a group of inherited, fatal neurodegenerative disorders of childhood. In these disorders, glial (microglial and astrocyte) activation typically o...

    Lotta Parviainen, Sybille Dihanich, Greg W. Anderson, Andrew M. Wong, Helen R. Brooks, Rosella Abeti, Payam Rezaie, Giovanna Lalli, Simon Pope, Simon J. Heales, Hannah M. Mitchison, Brenda P. Williams and Jonathan D. Cooper

    Acta Neuropathologica Communications 2017 5:74

    Published on: 17 October 2017

  10. Research

    Distinct deposition of amyloid-β species in brains with Alzheimer’s disease pathology visualized with MALDI imaging mass spectrometry

    Amyloid β (Aβ) deposition in the brain is an early and invariable feature of Alzheimer’s disease (AD). The Aβ peptides are composed of about 40 amino acids and are generated from amyloid precursor proteins (AP...

    Nobuto Kakuda, Tomohiro Miyasaka, Noriyuki Iwasaki, Takashi Nirasawa, Satoko Wada-Kakuda, Junko Takahashi-Fujigasaki, Shigeo Murayama, Yasuo Ihara and Masaya Ikegawa

    Acta Neuropathologica Communications 2017 5:73

    Published on: 16 October 2017

  11. Research

    Translocation of molecular chaperones to the titin springs is common in skeletal myopathy patients and affects sarcomere function

    Myopathies encompass a wide variety of acquired and hereditary disorders. The pathomechanisms include structural and functional changes affecting, e.g., myofiber metabolism and contractile properties. In this ...

    Andreas Unger, Lisa Beckendorf, Pierre Böhme, Rudolf Kley, Marion von Frieling-Salewsky, Hanns Lochmüller, Rolf Schröder, Dieter O. Fürst, Matthias Vorgerd and Wolfgang A. Linke

    Acta Neuropathologica Communications 2017 5:72

    Published on: 15 September 2017

  12. Research

    Transmission of α-synuclein-containing erythrocyte-derived extracellular vesicles across the blood-brain barrier via adsorptive mediated transcytosis: another mechanism for initiation and progression of Parkinson’s disease?

    Parkinson’s disease (PD) pathophysiology develops in part from the formation, transmission, and aggregation of toxic species of the protein α-synuclein (α-syn). Recent evidence suggests that extracellular vesi...

    Junichi Matsumoto, Tessandra Stewart, Lifu Sheng, Na Li, Kristin Bullock, Ning Song, Min Shi, William A Banks and Jing Zhang

    Acta Neuropathologica Communications 2017 5:71

    Published on: 13 September 2017

  13. Research

    Effects of sustained i.c.v. infusion of lupus CSF and autoantibodies on behavioral phenotype and neuronal calcium signaling

    Systemic lupus erythematosus (SLE) is a potentially fatal autoimmune disease that is often accompanied by brain atrophy and diverse neuropsychiatric manifestations of unknown origin. More recently, it was obse...

    Minesh Kapadia, Dunja Bijelić, Hui Zhao, Donglai Ma, Ljudmila Stojanovich, Milena Milošević, Pavle Andjus and Boris Šakić

    Acta Neuropathologica Communications 2017 5:70

    Published on: 7 September 2017

  14. Research

    Alzheimer’s disease pathological lesions activate the spleen tyrosine kinase

    The pathology of Alzheimer’s disease (AD) is characterized by dystrophic neurites (DNs) surrounding extracellular Aβ-plaques, microgliosis, astrogliosis, intraneuronal tau hyperphosphorylation and aggregation....

    Jonas Elias Schweig, Hailan Yao, David Beaulieu-Abdelahad, Ghania Ait-Ghezala, Benoit Mouzon, Fiona Crawford, Michael Mullan and Daniel Paris

    Acta Neuropathologica Communications 2017 5:69

    Published on: 6 September 2017

  15. Research

    Neuron loss and degeneration in the progression of TDP-43 in frontotemporal lobar degeneration

    Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is associated with the accumulation of pathological neuronal and glial intracytoplasmic inclusions as well as accompanying neuron loss. We ex...

    Ahmed Yousef, John L. Robinson, David J. Irwin, Matthew D. Byrne, Linda K. Kwong, Edward B. Lee, Yan Xu, Sharon X. Xie, Lior Rennert, EunRan Suh, Vivianna M. Van Deerlin, Murray Grossman, Virginia M.-Y. Lee and John Q. Trojanowski

    Acta Neuropathologica Communications 2017 5:68

    Published on: 6 September 2017

  16. Research

    Long-term neurologic and cardiac correction by intrathecal gene therapy in Pompe disease

    Pompe disease is a lysosomal storage disorder caused by acid-α-glucosidase (GAA) deficiency, leading to glycogen storage. The disease manifests as a fatal cardiomyopathy in infantile form. Enzyme replacement t...

    J. Hordeaux, L. Dubreil, C. Robveille, J. Deniaud, Q. Pascal, B. Dequéant, J. Pailloux, L. Lagalice, M. Ledevin, C. Babarit, P. Costiou, F. Jamme, M. Fusellier, Y. Mallem, C. Ciron, C. Huchet…

    Acta Neuropathologica Communications 2017 5:66

    Published on: 6 September 2017

  17. Research

    Enhanced exosome secretion in Down syndrome brain - a protective mechanism to alleviate neuronal endosomal abnormalities

    A dysfunctional endosomal pathway and abnormally enlarged early endosomes in neurons are an early characteristic of Down syndrome (DS) and Alzheimer’s disease (AD). We have hypothesized that endosomal material...

    Sébastien A. Gauthier, Rocío Pérez-González, Ajay Sharma, Fang-Ke Huang, Melissa J. Alldred, Monika Pawlik, Gurjinder Kaur, Stephen D. Ginsberg, Thomas A. Neubert and Efrat Levy

    Acta Neuropathologica Communications 2017 5:65

    Published on: 29 August 2017

  18. Review

    RNA biology of disease-associated microsatellite repeat expansions

    Microsatellites, or simple tandem repeat sequences, occur naturally in the human genome and have important roles in genome evolution and function. However, the expansion of microsatellites is associated with o...

    Kushal J. Rohilla and Keith T. Gagnon

    Acta Neuropathologica Communications 2017 5:63

    Published on: 29 August 2017

  19. Research

    The frequency and prognostic effect of TERT promoter mutation in diffuse gliomas

    Mutations in the telomerase reverse transcriptase gene promoter (TERTp) are common in glioblastomas (GBMs) and oligodendrogliomas (ODGs), and therefore, have a key role in tumorigenesis and may be of prognostic v...

    Yujin Lee, Jaemoon Koh, Seong-Ik Kim, Jae Kyung Won, Chul-Kee Park, Seung Hong Choi and Sung-Hye Park

    Acta Neuropathologica Communications 2017 5:62

    Published on: 29 August 2017

  20. Research

    Connectivity, not region-intrinsic properties, predicts regional vulnerability to progressive tau pathology in mouse models of disease

    Spatiotemporal tau pathology progression is regarded as highly stereotyped within each type of degenerative condition. For instance, AD has a progression of tau pathology consistently beginning in the entorhin...

    Chris Mezias, Eve LoCastro, Chuying Xia and Ashish Raj

    Acta Neuropathologica Communications 2017 5:61

    Published on: 14 August 2017

  21. Research

    Mutation-induced loss of APP function causes GABAergic depletion in recessive familial Alzheimer’s disease: analysis of Osaka mutation-knockin mice

    The E693Δ (Osaka) mutation in APP is linked to familial Alzheimer’s disease. While this mutation accelerates amyloid β (Aβ) oligomerization, only patient homozygotes suffer from dementia, implying that this mutat...

    Tomohiro Umeda, Tetsuya Kimura, Kayo Yoshida, Keizo Takao, Yuki Fujita, Shogo Matsuyama, Ayumi Sakai, Minato Yamashita, Yuki Yamashita, Kiyouhisa Ohnishi, Mamiko Suzuki, Hiroshi Takuma, Tsuyoshi Miyakawa, Akihiko Takashima, Takashi Morita, Hiroshi Mori…

    Acta Neuropathologica Communications 2017 5:59

    Published on: 31 July 2017

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