Sleep oscillation-specific associations with Alzheimer ’s disease CSF biomarkers: novel roles for sleep spindles and tau
Based on associations between sleep spindles, cognition, and sleep-dependent memory processing, here we evaluated potential relationships between levels of CSF A β42, P-tau, and T-tau with sleep spindle density an... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - February 21, 2019 Category: Neurology Authors: Korey Kam, Ankit Parekh, Ram A. Sharma, Andreia Andrade, Monica Lewin, Bresne Castillo, Omonigho M. Bubu, Nicholas J. Chua, Margo D. Miller, Anna E. Mullins, Lidia Glodzik, Lisa Mosconi, Nadia Gosselin, Kulkarni Prathamesh, Zhe Chen, Kaj Blennow & hellip; Tags: Research article Source Type: research

Aberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy
A G4C2 hexanucleotide repeat expansion in the noncoding region of C9orf72 is the major genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). Putative disease mechanisms underlyin... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - February 15, 2019 Category: Neurology Authors: Jeannie Chew, Casey Cook, Tania F. Gendron, Karen Jansen-West, Giulia del Rosso, Lillian M. Daughrity, Monica Castanedes-Casey, Aishe Kurti, Jeannette N. Stankowski, Matthew D. Disney, Jeffrey D. Rothstein, Dennis W. Dickson, John D. Fryer, Yong-Jie Zhang Tags: Research article Source Type: research

Differences in neurotropism and neurotoxicity among retrograde viral tracers
Neurotropic virus-based tracers have been extensively applied in mapping and manipulation of neural circuits. However, their neurotropic and neurotoxic properties remain to be fully characterized. (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - February 8, 2019 Category: Neurology Authors: Leqiang Sun, Yajie Tang, Keji Yan, Jinsong Yu, Yanyan Zou, Weize Xu, Ke Xiao, Zhihui Zhang, Weiming Li, Beili Wu, Zhe Hu, Kening Chen, Zhen F. Fu, Jinxia Dai and Gang Cao Tags: Methodology Source Type: research

Reduced presynaptic vesicle stores mediate cellular and network plasticity defects in an early-stage mouse model of Alzheimer ’s disease
Identifying effective strategies to prevent memory loss in AD has eluded researchers to date, and likely reflects insufficient understanding of early pathogenic mechanisms directly affecting memory encoding. A... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - January 22, 2019 Category: Neurology Authors: Shreaya Chakroborty, Evan S. Hill, Daniel T. Christian, Rosalind Helfrich, Shannon Riley, Corinne Schneider, Nicolas Kapecki, Sarah Mustaly-Kalimi, Figen A. Seiler, Daniel A. Peterson, Anthony R. West, Barbara M. Vertel, William N. Frost and Grace E. Stut Tags: Research article Source Type: research

Inhibition of monocyte-like cell extravasation protects from neurodegeneration in DBA/2J glaucoma
Glaucoma is characterized by the progressive dysfunction and loss of retinal ganglion cells. Recent work in animal models suggests that a critical neuroinflammatory event damages retinal ganglion cell axons in... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - January 22, 2019 Category: Neurology Authors: Pete A. Williams, Catherine E. Braine, Krishnakumar Kizhatil, Nicole E. Foxworth, Nicholas G. Tolman, Jeffrey M. Harder, Rebecca A. Scott, Gregory L. Sousa, Alyssa Panitch, Gareth R. Howell and Simon W. M. John Tags: Research article Source Type: research

Dementia with Lewy bodies: an update and outlook
Dementia with Lewy bodies (DLB) is an age-associated neurodegenerative disorder producing progressive cognitive decline that interferes with normal life and daily activities. Neuropathologically, DLB is charac... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - January 21, 2019 Category: Neurology Authors: Tiago Fleming Outeiro, David J. Koss, Daniel Erskine, Lauren Walker, Marzena Kurzawa-Akanbi, David Burn, Paul Donaghy, Christopher Morris, John-Paul Taylor, Alan Thomas, Johannes Attems and Ian McKeith Tags: Review Source Type: research

Emerging new roles of the lysosome and neuronal ceroid lipofuscinoses
Neuronal Ceroid Lipofuscinoses (NCLs), commonly known as Batten disease, constitute a group of the most prevalent neurodegenerative lysosomal storage disorders (LSDs). Mutations in at least 13 different genes ... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - January 16, 2019 Category: Neurology Authors: Anil B. Mukherjee, Abhilash P. Appu, Tamal Sadhukhan, Sydney Casey, Avisek Mondal, Zhongjian Zhang and Maria B. Bagh Tags: Review Source Type: research

Glucose transporter 1 critically controls microglial activation through facilitating glycolysis
Uncontrolled microglial activation contributes to the pathogenesis of various neurodegenerative diseases. Previous studies have shown that proinflammatory microglia are powered by glycolysis, which relays on h... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - January 11, 2019 Category: Neurology Authors: Luxi Wang, Sofia Pavlou, Xuan Du, Mohajeet Bhuckory, Heping Xu and Mei Chen Tags: Research article Source Type: research

Recent advances and perspectives of metabolomics-based investigations in Parkinson ’s disease
Parkinson ’s disease (PD) is the second most prevalent neurodegenerative disease of the central nervous system (CNS), which affects mostly older adults. In recent years, the incidence of PD has been dramaticall... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - January 11, 2019 Category: Neurology Authors: Yaping Shao and Weidong Le Tags: Review Source Type: research

Early increase of CSF sTREM2 in Alzheimer ’s disease is associated with tau related-neurodegeneration but not with amyloid-β pathology
TREM2 is a transmembrane receptor that is predominantly expressed by microglia in the central nervous system. Rare variants in the TREM2 gene increase the risk for late-onset Alzheimer ’s disease (AD). Soluble TRE... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - January 10, 2019 Category: Neurology Authors: Marc Su árez-Calvet, Estrella Morenas-Rodríguez, Gernot Kleinberger, Kai Schlepckow, Miguel Ángel Araque Caballero, Nicolai Franzmeier, Anja Capell, Katrin Fellerer, Brigitte Nuscher, Erden Eren, Johannes Levin, Yuetiva Deming, Laura Piccio, Celeste M. Tags: Research article Source Type: research

Proteolytic cleavage of Beclin 1 exacerbates neurodegeneration
Neuronal cell loss contributes to the pathology of acute and chronic neurodegenerative diseases, including Alzheimer ’s disease (AD). It remains crucial to identify molecular mechanisms sensitizing neurons to v... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - December 29, 2018 Category: Neurology Authors: Gregor Bieri, Kurt M. Lucin, Caitlin E. O ’Brien, Hui Zhang, Saul A. Villeda and Tony Wyss-Coray Tags: Research article Source Type: research

Development and validation of a simplified method to generate human microglia from pluripotent stem cells
Microglia, the principle immune cells of the brain, play important roles in neuronal development, homeostatic function and neurodegenerative disease. Recent genetic studies have further highlighted the importa... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - December 22, 2018 Category: Neurology Authors: Amanda McQuade, Morgan Coburn, Christina H. Tu, Jonathan Hasselmann, Hayk Davtyan and Mathew Blurton-Jones Tags: Methodology Source Type: research

New insights into the role of TREM2 in Alzheimer ’s disease
Alzheimer ’s disease (AD) is the leading cause of dementia. The two histopathological markers of AD are amyloid plaques composed of the amyloid-β (Aβ) peptide, and neurofibrillary tangles of aggregated, abnorma... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - December 20, 2018 Category: Neurology Authors: Maud Gratuze, Cheryl E. G. Leyns and David M. Holtzman Tags: Review Source Type: research

Genome-wide RNAseq study of the molecular mechanisms underlying microglia activation in response to pathological tau perturbation in the rTg4510 tau transgenic animal model
Activation of microglia, the resident immune cells of the central nervous system, is a prominent pathological hallmark of Alzheimer ’s disease (AD). However, the gene expression changes underlying microglia act... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - December 17, 2018 Category: Neurology Authors: Hong Wang, Yupeng Li, John W. Ryder, Justin T. Hole, Philip J. Ebert, David C. Airey, Hui-Rong Qian, Benjamin Logsdon, Alice Fisher, Zeshan Ahmed, Tracey K. Murray, Annalisa Cavallini, Suchira Bose, Brian J. Eastwood, David A. Collier, Jeffrey L. Dage & h Tags: Research article Source Type: research

Advances in developing novel therapeutic strategies for Alzheimer ’s disease
Alzheimer ’s Disease (AD), the most prevalent neurodegenerative disease of aging, affects one in eight older Americans. Nearly all drug treatments tested for AD today have failed to show any efficacy. There is ... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - December 12, 2018 Category: Neurology Authors: Jiqing Cao, Jianwei Hou, Jing Ping and Dongming Cai Tags: Review Source Type: research

Disease-modifying effects of metabolic perturbations in ALS/FTLD
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are two fatal neurodegenerative disorders with considerable clinical, pathological and genetic overlap. Both disorders are chara... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - December 4, 2018 Category: Neurology Authors: Ali Jawaid, Romesa Khan, Magdalini Polymenidou and Paul E. Schulz Tags: Review Source Type: research

GSK3 β-mediated tau hyperphosphorylation triggers diabetic retinal neurodegeneration by disrupting synaptic and mitochondrial functions
Although diabetic retinopathy (DR) has long been considered as a microvascular disorder, mounting evidence suggests that diabetic retinal neurodegeneration, in particular synaptic loss and dysfunction of retin... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - November 22, 2018 Category: Neurology Authors: Huazhang Zhu, Weizhen Zhang, Yingying Zhao, Xingsheng Shu, Wencong Wang, Dandan Wang, Yangfan Yang, Zhijun He, Xiaomei Wang and Ying Ying Tags: Research article Source Type: research

Functional alterations of myeloid cells during the course of Alzheimer ’s disease
Neuroinflammation is a hallmark of neurodegenerative disease and a significant component of the pathology of Alzheimer ’s disease (AD). Patients present with extensive microgliosis along with elevated pro-infla... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - November 13, 2018 Category: Neurology Authors: Aaron D. Thome, Alireza Faridar, David R. Beers, Jason R. Thonhoff, Weihua Zhao, Shixiang Wen, Belen Pascual, Joseph C. Masdeu and Stanley H. Appel Tags: Research article Source Type: research

A brain-penetrant triazolopyrimidine enhances microtubule-stability, reduces axonal dysfunction and decreases tau pathology in a mouse tauopathy model
Alzheimer ’s disease (AD) and related tauopathies are neurodegenerative diseases that are characterized by the presence of insoluble inclusions of the protein tau within brain neurons and often glia. Tau is nor... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - November 7, 2018 Category: Neurology Authors: Bin Zhang, Yuemang Yao, Anne-Sophie Cornec, Killian Oukoloff, Michael J. James, Pyry Koivula, John Q. Trojanowski, Amos B. Smith III, Virginia M.-Y. Lee, Carlo Ballatore and Kurt R. Brunden Tags: Research article Source Type: research

Tissue-enhanced plasma proteomic analysis for disease stratification in amyotrophic lateral sclerosis
It is unclear to what extent pre-clinical studies in genetically homogeneous animal models of amyotrophic lateral sclerosis (ALS), an invariably fatal neurodegenerative disorder, can be informative of human pa... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - November 7, 2018 Category: Neurology Authors: Irene Zubiri, Vittoria Lombardi, Michael Bremang, Vikram Mitra, Giovanni Nardo, Rocco Adiutori, Ching-Hua Lu, Emanuela Leoni, Ping Yip, Ozlem Yildiz, Malcolm Ward, Linda Greensmith, Caterina Bendotti, Ian Pike and Andrea Malaspina Tags: Research article Source Type: research

Correction to: Peripheral immune system in aging and Alzheimer ’s disease
The original article [1] contained several small omissions and errata contained in Tables 2 and 3; these errors have now been corrected. (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - October 24, 2018 Category: Neurology Authors: Wei Cao and Hui Zheng Tags: Correction Source Type: research

Blood-brain barrier-associated pericytes internalize and clear aggregated amyloid- β42 by LRP1-dependent apolipoprotein E isoform-specific mechanism
Clearance at the blood-brain barrier (BBB) plays an important role in removal of Alzheimer ’s amyloid-β (Aβ) toxin from brain both in humans and animal models. Apolipoprotein E (apoE), the major genetic risk fa... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - October 19, 2018 Category: Neurology Authors: Qingyi Ma, Zhen Zhao, Abhay P Sagare, Yingxi Wu, Min Wang, Nelly Chuqui Owens, Philip B Verghese, Joachim Herz, David M Holtzman and Berislav V Zlokovic Tags: Research article Source Type: research

Essential roles of mitochondrial biogenesis regulator Nrf1 in retinal development and homeostasis
Mitochondrial dysfunction has been implicated in the pathologies of a number of retinal degenerative diseases in both the outer and inner retina. In the outer retina, photoreceptors are particularly vulnerable... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - October 17, 2018 Category: Neurology Authors: Takae Kiyama, Ching-Kang Chen, Steven W Wang, Ping Pan, Zhenlin Ju, Jing Wang, Shinako Takada, William H Klein and Chai-An Mao Tags: Research article Source Type: research

Progranulin reduces insoluble TDP-43 levels, slows down axonal degeneration and prolongs survival in mutant TDP-43 mice
TAR DNA binding protein 43 (TDP-43) is the main disease protein in most patients with amyotrophic lateral sclerosis (ALS) and about 50% of patients with frontotemporal dementia (FTD). TDP-43 pathology is not r... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - October 16, 2018 Category: Neurology Authors: Sander Beel, Sarah Herdewyn, Raheem Fazal, Mathias De Decker, Matthieu Moisse, Wim Robberecht, Ludo Van Den Bosch and Philip Van Damme Tags: Research article Source Type: research

Deregulation of neuronal miRNAs induced by amyloid- β or TAU pathology
Despite diverging levels of amyloid- β (Aβ) and TAU pathology, different mouse models, as well as sporadic AD patients show predictable patterns of episodic memory loss. MicroRNA (miRNA) deregulation is well es... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - October 12, 2018 Category: Neurology Authors: Annerieke Sierksma, Ashley Lu, Evgenia Salta, Elke Vanden Eynden, Zsuzsanna Callaerts-Vegh, Rudi D ’Hooge, David Blum, Luc Buée, Mark Fiers and Bart De Strooper Tags: Research article Source Type: research

ABI3 and PLCG2 missense variants as risk factors for neurodegenerative diseases in Caucasians and African Americans
Rare coding variants ABI3_rs616338-T and PLCG2_rs72824905-G were identified as risk or protective factors, respectively, for Alzheimer ’s disease (AD). (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - October 11, 2018 Category: Neurology Authors: Olivia J Conway, Minerva M Carrasquillo, Xue Wang, Jenny M Bredenberg, Joseph S Reddy, Samantha L Strickland, Curtis S Younkin, Jeremy D Burgess, Mariet Allen, Sarah J Lincoln, Thuy Nguyen, Kimberly G Malphrus, Alexandra I Soto, Ronald L Walton, Bradley F Tags: Research article Source Type: research

Deep proteomic network analysis of Alzheimer ’s disease brain reveals alterations in RNA binding proteins and RNA splicing associated with disease
The complicated cellular and biochemical changes that occur in brain during Alzheimer ’s disease are poorly understood. In a previous study we used an unbiased label-free quantitative mass spectrometry-based pr... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - October 4, 2018 Category: Neurology Authors: Erik C. B. Johnson, Eric B. Dammer, Duc M. Duong, Luming Yin, Madhav Thambisetty, Juan C. Troncoso, James J. Lah, Allan I. Levey and Nicholas T. Seyfried Tags: Research article Source Type: research

Peripheral immune system in aging and Alzheimer ’s disease
Alzheimer ’s disease (AD) represents an urgent public health mandate. AD is no longer considered a neural-centric disease; rather, a plethora of recent studies strongly implicate a critical role played by neuro... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - October 3, 2018 Category: Neurology Authors: Wei Cao and Hui Zheng Tags: Review Source Type: research

Modifying Rap1-signalling by targeting Pde6 δ is neuroprotective in models of Alzheimer’s disease
Neuronal Ca2+ dyshomeostasis and hyperactivity play a central role in Alzheimer ’s disease pathology and progression. Amyloid-beta together with non-genetic risk-factors of Alzheimer’s disease contributes to incre... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - September 26, 2018 Category: Neurology Authors: Michael Dumbacher, Tom Van Dooren, Katrien Princen, Koen De Witte, M élissa Farinelli, Sam Lievens, Jan Tavernier, Wim Dehaen, Stefaan Wera, Joris Winderickx, Sara Allasia, Amuri Kilonda, Stéphane Spieser, Arnaud Marchand, Patrick Chaltin, Casper C. Hoo Tags: Research article Source Type: research

The Trem2 R47H Alzheimer ’s risk variant impairs splicing and reduces Trem2 mRNA and protein in mice but not in humans
The R47H variant of the Triggering Receptor Expressed on Myeloid cells 2 (TREM2) significantly increases the risk for late onset Alzheimer ’s disease. Mouse models accurately reproducing phenotypes observed in ... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - September 6, 2018 Category: Neurology Authors: Xianyuan Xiang, Thomas M. Piers, Benedikt Wefers, Kaichuan Zhu, Anna Mallach, Bettina Brunner, Gernot Kleinberger, Wilbur Song, Marco Colonna, Jochen Herms, Wolfgang Wurst, Jennifer M. Pocock and Christian Haass Tags: Research article Source Type: research

Early lysosomal maturation deficits in microglia triggers enhanced lysosomal activity in other brain cells of progranulin knockout mice
Heterozygous loss-of-function mutations in the progranulin gene (GRN) lead to frontotemporal lobar degeneration (FTLD) while the complete loss of progranulin (PGRN) function results in neuronal ceroid lipofuscino... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - September 4, 2018 Category: Neurology Authors: Julia K. G ötzl, Alessio-Vittorio Colombo, Katrin Fellerer, Anika Reifschneider, Georg Werner, Sabina Tahirovic, Christian Haass and Anja Capell Tags: Research article Source Type: research

Alzheimer-associated cerebrospinal fluid fragments of neurogranin are generated by Calpain-1 and prolyl endopeptidase
Neurogranin (Ng) is a small 7.6 kDa postsynaptic protein that has been detected at elevated concentrations in cerebrospinal fluid (CSF) of patients with Alzheimer ’s disease (AD), both as a full-length molecule... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - August 29, 2018 Category: Neurology Authors: Bruno Becker, Faisal Hayat Nazir, Gunnar Brinkmalm, Elena Camporesi, Hlin Kvartsberg, Erik Portelius, Martina Bostr öm, Marie Kalm, Kina Höglund, Maria Olsson, Henrik Zetterberg and Kaj Blennow Tags: Research article Source Type: research

Long-read sequencing across the C9orf72 ‘GGGGCC’ repeat expansion: implications for clinical use and genetic discovery efforts in human disease
Many neurodegenerative diseases are caused by nucleotide repeat expansions, but most expansions, like the C9orf72 ‘GGGGCC’ (G4C2) repeat that causes approximately 5–7% of all amyotrophic lateral sclerosis (ALS) a... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - August 21, 2018 Category: Neurology Authors: Mark T. W. Ebbert, Stefan L. Farrugia, Jonathon P. Sens, Karen Jansen-West, Tania F. Gendron, Mercedes Prudencio, Ian J. McLaughlin, Brett Bowman, Matthew Seetin, Mariely DeJesus-Hernandez, Jazmyne Jackson, Patricia H. Brown, Dennis W. Dickson, Marka van Tags: Methodology Source Type: research

PU.1 regulates Alzheimer ’s disease-associated genes in primary human microglia
Microglia play critical roles in the brain during homeostasis and pathological conditions. Understanding the molecular events underpinning microglial functions and activation states will further enable us to t... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - August 20, 2018 Category: Neurology Authors: Justin Rustenhoven, Amy M. Smith, Leon C. Smyth, Deidre Jansson, Emma L. Scotter, Molly E. V. Swanson, Miranda Aalderink, Natacha Coppieters, Pritika Narayan, Renee Handley, Chris Overall, Thomas I. H. Park, Patrick Schweder, Peter Heppner, Maurice A. Cur Tags: Research article Source Type: research

Subretinal macrophages produce classical complement activator C1q leading to the progression of focal retinal degeneration
The role of the alternative complement pathway and its mediation by retinal microglia and macrophages, is well-established in the pathogenesis of Age-Related Macular Degeneration (AMD). However, the contributi... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - August 20, 2018 Category: Neurology Authors: Haihan Jiao, Matt Rutar, Nilisha Fernando, Ted Yednock, Sethu Sankaranarayanan, Riemke Aggio-Bruce, Jan Provis and Riccardo Natoli Tags: Research article Source Type: research

Immunotherapy targeting toll-like receptor 2 alleviates neurodegeneration in models of synucleinopathy by modulating α-synuclein transmission and neuroinflammation
Synucleinopathies of the aging population are an heterogeneous group of neurological disorders that includes Parkinson ’s disease (PD) and dementia with Lewy bodies (DLB) and are characterized by the progressiv... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - August 9, 2018 Category: Neurology Authors: Changyoun Kim, Brian Spencer, Edward Rockenstein, Hodaka Yamakado, Michael Mante, Anthony Adame, Jerel Adam Fields, Deborah Masliah, Michiyo Iba, He-Jin Lee, Robert A. Rissman, Seung-Jae Lee and Eliezer Masliah Tags: Research article Source Type: research

Counteracting roles of MHCI and CD8+ T cells in the peripheral and central nervous system of ALS SOD1G93A mice
The major histocompatibility complex I (MHCI) is a key molecule for the interaction of mononucleated cells with CD8+T lymphocytes. We previously showed that MHCI is upregulated in the spinal cord microglia and mo... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - August 9, 2018 Category: Neurology Authors: Giovanni Nardo, Maria Chiara Trolese, Mattia Verderio, Alessandro Mariani, Massimiliano de Paola, Nilo Riva, Giorgia Dina, Nicol ò Panini, Eugenio Erba, Angelo Quattrini and Caterina Bendotti Tags: Research article Source Type: research

Joint genome-wide association study of progressive supranuclear palsy identifies novel susceptibility loci and genetic correlation to neurodegenerative diseases
Progressive supranuclear palsy (PSP) is a rare neurodegenerative disease for which the genetic contribution is incompletely understood. (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - August 8, 2018 Category: Neurology Authors: Jason A. Chen, Zhongbo Chen, Hyejung Won, Alden Y. Huang, Jennifer K. Lowe, Kevin Wojta, Jennifer S. Yokoyama, Gilbert Bensimon, P. Nigel Leigh, Christine Payan, Aleksey Shatunov, Ashley R. Jones, Cathryn M. Lewis, Panagiotis Deloukas, Philippe Amouyel, C Tags: Research article Source Type: research

Transcriptional profiling of HERV-K(HML-2) in amyotrophic lateral sclerosis and potential implications for expression of HML-2 proteins
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder. About 90% of ALS cases are without a known genetic cause. The human endogenous retrovirus multi-copy HERV-K(HML-2) group was recently ... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - August 2, 2018 Category: Neurology Authors: Jens Mayer, Christian Harz, Laura Sanchez, Gavin C. Pereira, Esther Maldener, Sara R. Heras, Lyle W. Ostrow, John Ravits, Ranjan Batra, Eckart Meese, Jose Luis Garc ía-Pérez and John L. Goodier Tags: Research article Source Type: research

A new hypothesis for Parkinson ’s disease pathogenesis: GTPase-p38 MAPK signaling and autophagy as convergence points of etiology and genomics
The combination of genetics and genomics in Parkinson ´s disease has recently begun to unveil molecular mechanisms possibly underlying disease onset and progression. In particular, catabolic processes such as a... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - August 2, 2018 Category: Neurology Authors: Julia Obergasteiger, Giulia Frapporti, Peter P. Pramstaller, Andrew A. Hicks and Mattia Volta Tags: Review Source Type: research

Polygenic analysis of inflammatory disease variants and effects on microglia in the aging brain
The role of the innate immune system in Alzheimer ’s disease (AD) and neurodegenerative disease susceptibility has recently been highlighted in genetic studies. However, we do not know whether risk for inflamma... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - July 24, 2018 Category: Neurology Authors: Daniel Felsky, Ellis Patrick, Julie A. Schneider, Sara Mostafavi, Chris Gaiteri, Nikolaos Patsopoulos, David A. Bennett and Philip L. De Jager Tags: Research article Source Type: research

Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci
Progressive supranuclear palsy (PSP) is a parkinsonian neurodegenerative tauopathy affecting brain regions involved in motor function, including the basal ganglia, diencephalon and brainstem. While PSP is larg... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - July 9, 2018 Category: Neurology Authors: Monica Y. Sanchez-Contreras, Naomi Kouri, Casey N. Cook, Daniel J. Serie, Michael G. Heckman, NiCole A. Finch, Richard J. Caselli, Ryan J. Uitti, Zbigniew K. Wszolek, Neill Graff-Radford, Leonard Petrucelli, Li-San Wang, Gerard D. Schellenberg, Dennis W. Tags: Research article Source Type: research

Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China
Hereditary spastic paraplegias (HSP) is a heterogeneous group of rare neurodegenerative disorders affecting the corticospinal tracts. To date, more than 78 HSP loci have been mapped to cause HSP. However, both... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - July 6, 2018 Category: Neurology Authors: En-Lin Dong, Chong Wang, Shuang Wu, Ying-Qian Lu, Xiao-Hong Lin, Hui-Zhen Su, Miao Zhao, Jin He, Li-Xiang Ma, Ning Wang, Wan-Jin Chen and Xiang Lin Tags: Research article Source Type: research

TMEM106B haplotypes have distinct gene expression patterns in aged brain
Single nucleotide polymorphisms (SNPs) inherited as one of two common haplotypes at the transmembrane protein 106B (TMEM106B) locus are associated with the risk of multiple neurodegenerative diseases, including f... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - July 3, 2018 Category: Neurology Authors: Yingxue Ren, Marka van Blitterswijk, Mariet Allen, Minerva M. Carrasquillo, Joseph S. Reddy, Xue Wang, Thomas G. Beach, Dennis W. Dickson, Nil üfer Ertekin-Taner, Yan W. Asmann and Rosa Rademakers Tags: Research article Source Type: research

Quantitative proteomics of acutely-isolated mouse microglia identifies novel immune Alzheimer ’s disease-related proteins
Microglia are innate immune cells of the brain that perform phagocytic and inflammatory functions in disease conditions. Transcriptomic studies of acutely-isolated microglia have provided novel insights into t... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - June 28, 2018 Category: Neurology Authors: Srikant Rangaraju, Eric B. Dammer, Syed Ali Raza, Tianwen Gao, Hailian Xiao, Ranjita Betarbet, Duc M. Duong, James A. Webster, Chadwick M. Hales, James J. Lah, Allan I. Levey and Nicholas T. Seyfried Tags: Research article Source Type: research

iPSC-derived familial Alzheimer ’s PSEN2 N141I cholinergic neurons exhibit mutation-dependent molecular pathology corrected by insulin signaling
Type 2 diabetes (T2D) is a recognized risk factor for the development of cognitive impairment (CI) and/or dementia, although the exact nature of the molecular pathology of T2D-associated CI remains obscure. On... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - June 26, 2018 Category: Neurology Authors: Cesar L. Moreno, Lucio Della Guardia, Valeria Shnyder, Maitane Ortiz-Virumbrales, Ilya Kruglikov, Bin Zhang, Eric E. Schadt, Rudolph E. Tanzi, Scott Noggle, Christoph Buettner and Sam Gandy Tags: Research article Source Type: research

Partial Tmem106b reduction does not correct abnormalities due to progranulin haploinsufficiency
Loss of function mutations in progranulin (GRN) are a major cause of frontotemporal dementia (FTD). Progranulin is a secreted glycoprotein that localizes to lysosomes and is critical for proper lysosomal function... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - June 22, 2018 Category: Neurology Authors: Andrew E. Arrant, Alexandra M. Nicholson, Xiaolai Zhou, Rosa Rademakers and Erik D. Roberson Tags: Research article Source Type: research

Transcriptional profiling and biomarker identification reveal tissue specific effects of expanded ataxin-3 in a spinocerebellar ataxia type 3 mouse model
Spinocerebellar ataxia type 3 (SCA3) is a progressive neurodegenerative disorder caused by expansion of the polyglutamine repeat in the ataxin-3 protein. Expression of mutant ataxin-3 is known to result in tra... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - June 22, 2018 Category: Neurology Authors: Lodewijk J. A. Toonen, Maurice Overzier, Melvin M. Evers, Leticia G. Leon, Sander A. J. van der Zeeuw, Hailiang Mei, Szymon M. Kielbasa, Jelle J. Goeman, Kristina M. Hettne, Olafur Th. Magnusson, Marion Poirel, Alexandre Seyer, Peter A. C. ‘t Hoen and W Tags: Research article Source Type: research

The Trem2 R47H variant confers loss-of-function-like phenotypes in Alzheimer ’s disease
The R47H variant of Triggering Receptor Expressed on Myeloid cells 2 (TREM2) confers greatly increased risk for Alzheimer ’s disease (AD), reflective of a central role for myeloid cells in neurodegeneration. Un... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - June 1, 2018 Category: Neurology Authors: Paul J. Cheng-Hathaway, Erin G. Reed-Geaghan, Taylor R. Jay, Brad T. Casali, Shane M. Bemiller, Shweta S. Puntambekar, Victoria E. von Saucken, Roxanne Y. Williams, J. Colleen Karlo, Miguel Moutinho, Guixiang Xu, Richard M. Ransohoff, Bruce T. Lamb and Ga Tags: Research article Source Type: research

Protective paraspeckle hyper-assembly downstream of TDP-43 loss of function in amyotrophic lateral sclerosis
Paraspeckles are subnuclear bodies assembled on a long non-coding RNA (lncRNA) NEAT1. Their enhanced formation in spinal neurons of sporadic amyotrophic lateral sclerosis (ALS) patients has been reported but u... (Source: Molecular Neurodegeneration)
Source: Molecular Neurodegeneration - June 1, 2018 Category: Neurology Authors: Tatyana A. Shelkovnikova, Michail S. Kukharsky, Haiyan An, Pasquale Dimasi, Svetlana Alexeeva, Osman Shabir, Paul R. Heath and Vladimir L. Buchman Tags: Research article Source Type: research