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Acta Neuropathologica Communications

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https://www.readbyqxmd.com/read/29157304/a-novel-vector-for-transgenesis-in-the-rat-cns
#1
T Peter Lopez, Kurt Giles, Brittany N Dugger, Abby Oehler, Carlo Condello, Zuzana Krejciova, Julian A Castaneda, George A Carlson, Stanley B Prusiner
The larger brain of the rat enables a much greater repertoire of complex behaviors than mice, likely making rats preferential for investigating neurodegeneration. Because molecular tools for specific expression of transgenes in the rat brain are sparse, we chose Prnp encoding the prion protein (PrP) to develop a novel vector to drive transgene expression in the rat brain. We compared the rat Prnp sequence with mouse and Syrian hamster Prnp sequences, identifying conserved genetic elements and hypothesizing that these elements would be able to drive neuronal transgene expression...
November 21, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29132416/distinct-functional-consequences-of-ecel1-dine-missense-mutations-in-the-pathogenesis-of-congenital-contracture-disorders
#2
Kenichi Nagata, Mika Takahashi, Sumiko Kiryu-Seo, Hiroshi Kiyama, Takaomi C Saido
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 characterized by ocular phenotypes in addition to the congenital limb contractures that are common to all DA subtypes. Until now, the consequences of the identified pathogenic mutations have remained incompletely understood because of a lack of detailed phenotypic analyses in relevant mouse models. In this study, we generated a new knock-in mouse strain that carries an ECEL1/DINE pathogenic G607S missense mutation, based on a previous study reporting atypical DA hindlimb phenotypes in two siblings with the mutation...
November 13, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29126430/lack-of-chronic-neuroinflammation-in-the-absence-of-focal-hemorrhage-in-a-rat-model-of-low-energy-blast-induced-tbi
#3
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, Gregory A Elder
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. Acutely, depending on the blast energy, blast wave duration, and number of exposures, blast waves disrupt the blood-brain barrier, triggering microglial activation and neuroinflammation. Recently, there has been much interest in the role that ongoing neuroinflammation may play in the chronic effects of TBI...
November 10, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29122008/deposition-of-mutant-ubiquitin-in-parkinsonism-dementia-complex-of-guam
#4
LETTER
Bert M Verheijen, Tomoyo Hashimoto, Kiyomitsu Oyanagi, Fred W van Leeuwen
No abstract text is available yet for this article.
November 9, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29115989/clusterin-protects-neurons-against-intracellular-proteotoxicity
#5
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, Mark R Wilson
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 physical relocation remain unknown. We have examined in this study whether or not increased expression of clusterin is able to protect neuronal cells against intracellular protein aggregation and cytotoxicity, characteristics that are strongly implicated in a range of neurodegenerative diseases. We used the amyotrophic lateral sclerosis-associated protein TDP-43 as a primary model to investigate the effects of clusterin on protein aggregation and neurotoxicity in complementary in vitro, neuronal cell and Drosophila systems...
November 7, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29089052/epigenetic-control-of-epilepsy-target-genes-contributes-to-a-cellular-memory-of-epileptogenesis-in-cultured-rat-hippocampal-neurons
#6
K Kiese, J Jablonski, J Hackenbracht, J K Wrosch, T W Groemer, J Kornhuber, I Blümcke, K Kobow
Hypersynchronous neuronal excitation manifests clinically as seizure (ictogenesis), and may recur spontaneously and repetitively after a variable latency period (epileptogenesis). Despite tremendous research efforts to describe molecular pathways and signatures of epileptogenesis, molecular pathomechanisms leading to chronic epilepsy remain to be clarified. We hypothesized that epigenetic modifications may form the basis for a cellular memory of epileptogenesis, and used a primary neuronal cell culture model of the rat hippocampus to study the translation of massive neuronal excitation into persisting changes of epigenetic signatures and pro-epileptogenic target gene expression...
October 31, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29084603/characterizing-temporal-genomic-heterogeneity-in-pediatric-high-grade-gliomas
#7
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, Diana S Osorio, Charles Stevenson, Claudia L Kleinman, Jacek Majewski, Maryam Fouladi, Nada Jabado
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. Empiric use of targeted therapy, especially at progression, is increasingly practiced despite a paucity of data regarding temporal and therapy-driven genomic evolution in pHGGs. To study the genetic landscape of pHGGs at recurrence, we performed whole exome and methylation analyses on matched primary and recurrent pHGGs from 16 patients...
October 30, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29078806/distinct-tdp-43-inclusion-morphologies-in-frontotemporal-lobar-degeneration-with-and-without-amyotrophic-lateral-sclerosis
#8
Rachel H Tan, Yue Yang, Woojin S Kim, Carol Dobson-Stone, John B Kwok, Matthew C Kiernan, Glenda M Halliday
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 these two diseases share similar mechanisms, likely to be linked to the abnormal hyperphosphorylation, ubiquitination and cleavage of pathological TDP-43. Importantly however, a quantitative analysis of TDP-43 inclusions in predilection cortical regions of FTLD, FTLD-ALS and ALS cases has not been undertaken...
October 27, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29078805/crispr-cas9-correctable-mutation-related-molecular-and-physiological-phenotypes-in-ipsc-derived-alzheimer-s-psen2-n141i-neurons
#9
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, Sam Gandy
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 formation and retrieval. We present an optimized in vitro protocol to generate human BFCNs from iPSCs, using cell lines from presenilin 2 (PSEN2) mutation carriers and controls. As expected, cell lines harboring the PSEN2 (N141I) mutation displayed an increase in the Aβ42/40 in iPSC-derived BFCNs. Neurons derived from PSEN2 (N141I) lines generated fewer maximum number of spikes in response to a square depolarizing current injection...
October 27, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29047416/lessons-learned-about-f-18-av-1451-off-target-binding-from-an-autopsy-confirmed-parkinson-s-case
#10
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
[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 type and mild cognitive impairment in regions that are known to contain tau lesions. In vivo uptake has also consistently been observed in midbrain, basal ganglia and choroid plexus in elderly individuals regardless of their clinical diagnosis, including clinically normal whose brains are not expected to harbor tau pathology in those areas...
October 19, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29041969/glial-cells-are-functionally-impaired-in-juvenile-neuronal-ceroid-lipofuscinosis-and-detrimental-to-neurons
#11
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, Jonathan D Cooper
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 occurs early in disease progression and predicts where neuron loss subsequently occurs. We have found that in the most common juvenile form of NCL (CLN3 disease or JNCL) this glial response is less pronounced in both mouse models and human autopsy material, with the morphological transformation of both astrocytes and microglia severely attenuated or delayed...
October 17, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/29037261/distinct-deposition-of-amyloid-%C3%AE-species-in-brains-with-alzheimer-s-disease-pathology-visualized-with-maldi-imaging-mass-spectrometry
#12
Nobuto Kakuda, Tomohiro Miyasaka, Noriyuki Iwasaki, Takashi Nirasawa, Satoko Wada-Kakuda, Junko Takahashi-Fujigasaki, Shigeo Murayama, Yasuo Ihara, Masaya Ikegawa
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 (APP), by β- and γ-secretases. The distribution of individual Aβ peptides in the brains of aged people, and those suffering from AD and cerebral amyloid angiopathy (CAA), is not fully characterized. We employed the matrix-assisted laser desorption/ionization-imaging mass spectrometry (MALDI-IMS) to illustrate the spatial distribution of a broad range of Aβ species in human autopsied brains...
October 16, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28915917/translocation-of-molecular-chaperones-to-the-titin-springs-is-common-in-skeletal-myopathy-patients-and-affects-sarcomere-function
#13
Andreas Unger, Lisa Beckendorf, Pierre Böhme, Rudolf Kley, Marion von Frieling-Salewsky, Hanns Lochmüller, Rolf Schröder, Dieter O Fürst, Matthias Vorgerd, Wolfgang A Linke
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 study, we observed increased passive tension (PT) of skinned myofibers from patients with myofibrillar myopathy (MFM) caused by FLNC mutations (MFM-filaminopathy) and limb-girdle muscular dystrophy type-2A due to CAPN3 mutations (LGMD2A), compared to healthy control myofibers. Because the giant protein titin determines myofiber PT, we measured its molecular size and the titin-to-myosin ratio, but found no differences between myopathies and controls...
September 15, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28903781/transmission-of-%C3%AE-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
#14
Junichi Matsumoto, Tessandra Stewart, Lifu Sheng, Na Li, Kristin Bullock, Ning Song, Min Shi, William A Banks, Jing Zhang
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 vesicles (EVs) may play a vital role in the transport of toxic α-syn between brain regions. Moreover, increasing evidence has highlighted the participation of peripheral molecules, particularly inflammatory species, which may influence or exacerbate the development of PD-related changes to the central nervous system (CNS), although detailed characterization of these species remains to be completed...
September 13, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28882191/effects-of-sustained-i-c-v-infusion-of-lupus-csf-and-autoantibodies-on-behavioral-phenotype-and-neuronal-calcium-signaling
#15
Minesh Kapadia, Dunja Bijelić, Hui Zhao, Donglai Ma, Ljudmila Stojanovich, Milena Milošević, Pavle Andjus, Boris Šakić
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 observed that cerebrospinal fluid (CSF) from patients and lupus-prone mice can be neurotoxic and that acute administration of specific brain-reactive autoantibodies (BRAs) can induce deficits in isolated behavioral tasks. Given the chronic and complex nature of CNS SLE, the current study examines broad behavioral performance and neuronal Ca(2+) signaling in mice receiving a sustained infusion of cerebrospinal fluid (CSF) from CNS SLE patients and putative BRAs (anti-NR2A, anti-ribosomal P, and anti-α-tubulin)...
September 7, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28877763/alzheimer-s-disease-pathological-lesions-activate-the-spleen-tyrosine-kinase
#16
Jonas Elias Schweig, Hailan Yao, David Beaulieu-Abdelahad, Ghania Ait-Ghezala, Benoit Mouzon, Fiona Crawford, Michael Mullan, Daniel Paris
The pathology of Alzheimer's disease (AD) is characterized by dystrophic neurites (DNs) surrounding extracellular Aβ-plaques, microgliosis, astrogliosis, intraneuronal tau hyperphosphorylation and aggregation. We have previously shown that inhibition of the spleen tyrosine kinase (Syk) lowers Aβ production and tau hyperphosphorylation in vitro and in vivo. Here, we demonstrate that Aβ-overexpressing Tg PS1/APPsw, Tg APPsw mice, and tau overexpressing Tg Tau P301S mice exhibit a pathological activation of Syk compared to wild-type littermates...
September 6, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28877758/neuron-loss-and-degeneration-in-the-progression-of-tdp-43-in-frontotemporal-lobar-degeneration
#17
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, John Q Trojanowski
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 explored if cortical neurons detected by NeuN decreased with increasing TDP-43 inclusion pathology in the postmortem brains of 63 patients with sporadic and familial FTLD-TDP. Semi-automated quantitative algorithms to quantify histology in tissue sections stained with antibodies specific for pathological or phosphorylated TDP-43 (pTDP-43) and NeuN were developed and validated in affected (cerebral cortex) and minimally affected (cerebellar cortex) brain regions of FTLD-TDP cases...
September 6, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28874186/age-dependent-changes-in-synaptic-plasticity-enhance-tau-oligomerization-in-the-mouse-hippocampus
#18
Tetsuya Kimura, Mamiko Suzuki, Takumi Akagi
The aggregation mechanism of phosphorylated tau is an important therapeutic target for tauopathies, including Alzheimer's disease, although the mechanism by which aggregation occurs is still unknown. Because the phosphorylation process of tau is involved in the trafficking of AMPA receptors, which accompanies the long-term depression (LTD) of synapses, we examined the effect of LTD-inducing low-frequency stimulation (LFS) on the formation of pathological tau aggregates in adult and aged wild-type mice. Our biochemical analysis demonstrated that LFS led to the formation of sarkosyl-insoluble (SI) tau oligomers in aged hippocampi but not in adult hippocampi in wild-type mice...
September 6, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28874182/long-term-neurologic-and-cardiac-correction-by-intrathecal-gene-therapy-in-pompe-disease
#19
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, C Caillaud, M-A Colle
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 therapy (ERT) has recently prolonged the lifespan of these patients, revealing a new natural history. The neurologic phenotype and the persistence of selective muscular weakness in some patients could be attributed to the central nervous system (CNS) storage uncorrected by ERT. GAA-KO 6neo/6neo mice were treated with a single intrathecal administration of adeno-associated recombinant vector (AAV) mediated gene transfer of human GAA at 1 month and their neurologic, neuromuscular, and cardiac function was assessed for 1 year...
September 6, 2017: Acta Neuropathologica Communications
https://www.readbyqxmd.com/read/28851463/rna-biology-of-disease-associated-microsatellite-repeat-expansions
#20
REVIEW
Kushal J Rohilla, Keith T Gagnon
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 over two dozen neurological diseases. A common denominator among the majority of these disorders is the expression of expanded tandem repeat-containing RNA, referred to as xtrRNA in this review, which can mediate molecular disease pathology in multiple ways. This review focuses on the potential impact that simple tandem repeat expansions can have on the biology and metabolism of RNA that contain them and underscores important gaps in understanding...
August 29, 2017: Acta Neuropathologica Communications
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