Mitochondria are the organelles responsible for energy metabolism and have a direct impact on neuronal function and survival. Mitochondrial abnormalities have been well characterized in Alzheimer Disease (AD)....
Authors: Sirui Jiang, Priya Nandy, Wenzhang Wang, Xiaopin Ma, Jeffrey Hsia, Chunyu Wang, Zhenlian Wang, Mengyue Niu, Sandra L. Siedlak, Sandy Torres, Hisashi Fujioka, Ying Xu, Hyoung-gon Lee, George Perry, Jun Liu and Xiongwei Zhu
Spinocerebellar ataxia 17 (SCA17) belongs to the family of neurodegenerative diseases caused by polyglutamine (polyQ) expansion. In SCA17, polyQ expansion occurs in the TATA box binding protein (TBP) and leads...
Authors: Jifeng Guo, Yiting Cui, Qiong Liu, Yang Yang, Yujing Li, Ling Weng, Beisha Tang, Peng Jin, Xiao-Jiang Li, Su Yang and Shihua Li
Mutations in LRRK2 are a common genetic cause of Parkinson’s disease (PD). LRRK2 interacts with and phosphorylates a subset of Rab proteins including Rab8a, a protein which has been implicated in various centr...
Authors: Jesús Madero-Pérez, Elena Fdez, Belén Fernández, Antonio J. Lara Ordóñez, Marian Blanca Ramírez, Patricia Gómez-Suaga, Dieter Waschbüsch, Evy Lobbestael, Veerle Baekelandt, Angus C. Nairn, Javier Ruiz-Martínez, Ana Aiastui, Adolfo López de Munain, Pawel Lis, Thomas Comptdaer, Jean-Marc Taymans…
Alzheimer’s disease (AD), the most common neurodegenerative disorder, is characterized by the deposition of extracellular amyloid plaques and intracellular neurofibrillary tangles. To understand the pathologic...
Authors: Dong Kyu Kim, Joonho Park, Dohyun Han, Jinhee Yang, Ahbin Kim, Jongmin Woo, Youngsoo Kim and Inhee Mook-Jung
Mutations in glucocerebrosidase (GBA) cause Gaucher disease (GD) and increase the risk of developing Parkinson’s disease (PD) and Dementia with Lewy Bodies (DLB). Since both genetic and environmental factors c...
Authors: Seung Pil Yun, Donghoon Kim, Sangjune Kim, SangMin Kim, Senthilkumar S. Karuppagounder, Seung-Hwan Kwon, Saebom Lee, Tae-In Kam, Suhyun Lee, Sangwoo Ham, Jae Hong Park, Valina L. Dawson, Ted M. Dawson, Yunjong Lee and Han Seok Ko
Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are neurodegenerative disorders that share genetic risk factors and pathological hallmarks. Intriguingly, these shared factors result in a ...
Authors: Zhiqiang Deng, Patricia Sheehan, Shi Chen and Zhenyu Yue
Alzheimer’s disease (AD) is behaviorally identified by progressive memory impairment and pathologically characterized by the triad of β-amyloid plaques, neurofibrillary tangles, and neurodegeneration. Genetic ...
The microtubule-associated protein Tau plays a role in neurodegeneration as well as neurogenesis. Previous work has shown that the expression of the pro-aggregant mutant Tau repeat domain causes strong aggrega...
Authors: Maria Joseph, Marta Anglada-Huguet, Katharina Paesler, Eckhard Mandelkow and Eva-Maria Mandelkow
Tau is a microtubule-binding protein, which is subject to various post-translational modifications (PTMs) including phosphorylation, methylation, acetylation, glycosylation, nitration, sumoylation and truncati...
Authors: Ebru Ercan, Sameh Eid, Christian Weber, Alexandra Kowalski, Maria Bichmann, Annika Behrendt, Frank Matthes, Sybille Krauss, Peter Reinhardt, Simone Fulle and Dagmar E. Ehrnhoefer
Alzheimer’s disease (AD) is characterized by amyloid deposition, tangle formation as well as synapse loss. Synaptic abnormalities occur early in the pathogenesis of AD. Identifying early synaptic abnormalities...
Authors: Yang Bai, Miao Li, Yanmei Zhou, Lei Ma, Qian Qiao, Wanling Hu, Wei Li, Zachary Patrick Wills and Wen-Biao Gan
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative condition where loss of motor neurons within the brain and spinal cord leads to muscle atrophy, weakness, paralysis and ultimately...
Authors: Yuri Ciervo, Ke Ning, Xu Jun, Pamela J. Shaw and Richard J. Mead
Parkinson’s disease (PD) is a progressive movement neurodegenerative disease associated with a loss of dopaminergic neurons in the substantia nigra of the brain. Oxidative stress, a condition that occurs due t...
Authors: Karim Belarbi, Elodie Cuvelier, Alain Destée, Bernard Gressier and Marie-Christine Chartier-Harlin
YKL-40 (also known as Chitinase 3-like 1) is a glycoprotein produced by inflammatory, cancer and stem cells. Its physiological role is not completely understood but YKL-40 is elevated in the brain and cerebros...
Authors: Franc Llorens, Katrin Thüne, Waqas Tahir, Eirini Kanata, Daniela Diaz-Lucena, Konstantinos Xanthopoulos, Eleni Kovatsi, Catharina Pleschka, Paula Garcia-Esparcia, Matthias Schmitz, Duru Ozbay, Susana Correia, Ângela Correia, Ira Milosevic, Olivier Andréoletti, Natalia Fernández-Borges…
Oligodendrocytes (OLs) and myelin are critical for normal brain function and have been implicated in neurodegeneration. Several lines of evidence including neuroimaging and neuropathological data suggest that ...
Authors: Andrew T. McKenzie, Sarah Moyon, Minghui Wang, Igor Katsyv, Won-Min Song, Xianxiao Zhou, Eric B. Dammer, Duc M. Duong, Joshua Aaker, Yongzhong Zhao, Noam Beckmann, Pei Wang, Jun Zhu, James J. Lah, Nicholas T. Seyfried, Allan I. Levey…
Metabolic perturbations and slower renewal of cellular components associated with aging increase the risk of Parkinson’s disease (PD). Declining activity of AMPK, a critical cellular energy sensor, may therefo...
Authors: Wojciech Bobela, Sameer Nazeeruddin, Graham Knott, Patrick Aebischer and Bernard L. Schneider
Genome wide association studies have identified microtubule associated protein tau (MAPT) H1 haplotype single nucleotide polymorphisms (SNPs) as leading common risk variants for Parkinson’s disease, progressive s...
Authors: Mang Ching Lai, Anne-Laure Bechy, Franziska Denk, Emma Collins, Maria Gavriliouk, Judith B. Zaugg, Brent J. Ryan, Richard Wade-Martins and Tara M. Caffrey
Neuronal degeneration is a common mechanism of many neurological diseases including Parkinson’s disease (PD), Alzheimer’s disease (AD), and Multiple Sclerosis (MS). While AD and PD are classical neurodegenerat...
Authors: Annika Sommer, Beate Winner and Iryna Prots
Neurons are highly polarized cells consisting of three distinct functional domains: the cell body (and associated dendrites), the axon and the synapse. Previously, it was believed that the clinical phenotypes ...
Authors: Laura C. Graham, Samantha L. Eaton, Paula J. Brunton, Abdelmadjid Atrih, Colin Smith, Douglas J. Lamont, Thomas H. Gillingwater, Giuseppa Pennetta, Paul Skehel and Thomas M. Wishart
The objective of this study was to investigate cellular bioenergetics in primary skin fibroblasts derived from patients with amyotrophic lateral sclerosis (ALS) and to determine if they can be used as classifi...
Authors: Csaba Konrad, Hibiki Kawamata, Kirsten G. Bredvik, Andrea J. Arreguin, Steven A. Cajamarca, Jonathan C. Hupf, John M. Ravits, Timothy M. Miller, Nicholas J. Maragakis, Chadwick M. Hales, Jonathan D. Glass, Steven Gross, Hiroshi Mitsumoto and Giovanni Manfredi
The homeostasis of iron is vital to human health, and iron dyshomeostasis can lead to various disorders. Iron homeostasis is maintained by iron regulatory proteins (IRP1 and IRP2) and the iron-responsive eleme...
Genetic variants of the Triggering Receptor Expressed on Myeloid Cells-2 (TREM2) confer increased risk of developing late-onset Alzheimer’s Disease (LOAD) and other neurodegenerative disorders. Recent studies pro...
Authors: Shane M. Bemiller, Tyler J. McCray, Kevin Allan, Shane V. Formica, Guixiang Xu, Gina Wilson, Olga N. Kokiko-Cochran, Samuel D. Crish, Cristian A. Lasagna-Reeves, Richard M. Ransohoff, Gary E. Landreth and Bruce T. Lamb
Alzheimer’s disease (AD) is the most common age-related neurodegenerative disorder, affecting millions of people worldwide. Although dysfunction of multiple neurotransmitter systems including cholinergic, glut...
Authors: Yue Wang, Zheng Wu, Yu-Ting Bai, Gang-Yi Wu and Gong Chen
MAPT mutations cause neurodegenerative diseases such as frontotemporal dementia but, strikingly, patients with the same mutation may have different clinical phenotypes.
Authors: Ghazaleh Eskandari-Sedighi, Nathalie Daude, Hristina Gapeshina, David W. Sanders, Razieh Kamali-Jamil, Jing Yang, Beipei Shi, Holger Wille, Bernardino Ghetti, Marc I. Diamond, Christopher Janus and David Westaway
Optic nerve injury is an important pathological component in neurodegenerative diseases such as traumatic optic neuropathies and glaucoma. The molecular signaling pathway(s) critical for retinal ganglion cell ...
Authors: Stephanie B. Syc-Mazurek, Kimberly A. Fernandes, Michael P. Wilson, Peter Shrager and Richard T. Libby
Early onset Parkinson’s disease is caused by variants in PINK1, parkin, and DJ-1. PINK1 and parkin operate in pathways that preserve mitochondrial integrity, but the function of DJ-1 and how it relates to PINK1 a...
Authors: David N. Hauser, Adamantios Mamais, Melissa M. Conti, Christopher T. Primiani, Ravindran Kumaran, Allissa A. Dillman, Rebekah G. Langston, Alexandra Beilina, Joseph H. Garcia, Alberto Diaz-Ruiz, Michel Bernier, Fabienne C. Fiesel, Xu Hou, Wolfdieter Springer, Yan Li, Rafael de Cabo…
There are inconsistences regarding the correlation between diabetes or fasting blood glucose concentrations and the risk and survival of amyotrophic lateral sclerosis (ALS) in the previous studies. Moreover, t...
Authors: Qian-Qian Wei, Yongping Chen, Bei Cao, Ru Wei Ou, Lingyu Zhang, Yanbing Hou, Xiang Gao and Huifang Shang
Retinitis pigmentosa (RP) is the most common inherited retinal degenerative disease yet with no effective treatment available. The sigma-1 receptor (S1R), a ligand-regulated chaperone, emerges as a potential r...
Authors: Huan Yang, Yingmei Fu, Xinying Liu, Pawan K. Shahi, Timur A. Mavlyutov, Jun Li, Annie Yao, Steven Z.-W. Guo, Bikash R. Pattnaik and Lian-Wang Guo
White matter hyperintensities (WMH) are an important biomarker of cumulative vascular brain injury and have been associated with cognitive decline and an increased risk of dementia, stroke, depression, and gai...
Authors: Honghuang Lin, Claudia Satizabal, Zhijun Xie, Qiong Yang, Tianxiao Huan, Roby Joehanes, Chengping Wen, Peter J. Munson, Alexa Beiser, Daniel Levy and Sudha Seshadri
Pharmacologic inhibition of C5aR1, a receptor for the complement activation proinflammatory fragment, C5a, suppressed pathology and cognitive deficits in Alzheimer's disease (AD) mouse models. To validate that...
Authors: Michael X. Hernandez, Shan Jiang, Tracy A. Cole, Shu-Hui Chu, Maria I. Fonseca, Melody J. Fang, Lindsay A. Hohsfield, Maria D. Torres, Kim N. Green, Rick A. Wetsel, Ali Mortazavi and Andrea J. Tenner
Protein inclusions are a predominant molecular pathology found in numerous neurodegenerative diseases, including amyotrophic lateral sclerosis and Huntington’s disease. Protein inclusions form in discrete area...
Authors: Rebecca San Gil, Lezanne Ooi, Justin J. Yerbury and Heath Ecroyd
The molecular mechanism underlying progressive memory loss in Alzheimer’s disease is poorly understood. Neurogenesis in the adult hippocampus is a dynamic process that continuously changes the dentate gyrus an...
Authors: Carolyn Hollands, Matthew Kyle Tobin, Michael Hsu, Kianna Musaraca, Tzong-Shiue Yu, Rachana Mishra, Steven G. Kernie and Orly Lazarov
There is still a substantial unmet need for less invasive and lower-cost blood-based biomarkers to detect brain Alzheimer’s disease (AD) pathology. This study is aimed to determine whether quantification of pl...
Authors: Harutsugu Tatebe, Takashi Kasai, Takuma Ohmichi, Yusuke Kishi, Tomoshi Kakeya, Masaaki Waragai, Masaki Kondo, David Allsop and Takahiko Tokuda
Mutations resulting in progranulin (PGRN) haploinsufficiency cause frontotemporal lobar degeneration with TDP-43-positive inclusions (FTLD-TDP), a devastating neurodegenerative disease. PGRN is localized to th...
Authors: Xiaolai Zhou, Daniel H. Paushter, Tuancheng Feng, Lirong Sun, Thomas Reinheckel and Fenghua Hu
Alzheimer’s disease (AD)-linked β-amyloid (Aβ) accumulates in multivesicular bodies (MVBs) with the onset of AD pathogenesis. Alterations in endosomes are among the earliest changes associated with AD but the ...
Authors: Katarina Willén, James R. Edgar, Takafumi Hasegawa, Nobuyuki Tanaka, Clare E. Futter and Gunnar K. Gouras
Alzheimer’s Disease (AD), characterized by accumulation of beta-amyloid (Aβ) plaques in the brain, can be caused by age-related failures to clear Aβ from the brain through pathways that involve the cerebrovasc...
Authors: Jérôme Robert, Emily B. Button, Sophie Stukas, Guilaine K. Boyce, Ebrima Gibbs, Catherine M. Cowan, Megan Gilmour, Wai Hang Cheng, Sonja K. Soo, Brian Yuen, Arvin Bahrabadi, Kevin Kang, Iva Kulic, Gordon Francis, Neil Cashman and Cheryl L. Wellington
Extracellular Tau is toxic for neighboring cells, and it contributes to the progression of AD. The CX3CL1/CX3CR1 axis is an important neuron/microglia communication mechanism.
Authors: Marta Bolós, María Llorens-Martín, Juan Ramón Perea, Jerónimo Jurado-Arjona, Alberto Rábano, Félix Hernández and Jesús Avila
Tau is an axon-enriched protein that binds to and stabilizes microtubules, and hence plays a crucial role in neuronal function. In Alzheimer’s disease (AD), pathological tau accumulation correlates with cognit...
Authors: Marius Chiasseu, Luis Alarcon-Martinez, Nicolas Belforte, Heberto Quintero, Florence Dotigny, Laurie Destroismaisons, Christine Vande Velde, Fany Panayi, Caroline Louis and Adriana Di Polo
Adverse effects in diabetic mothers offspring (DMO) are a major concern of increasing incidence. Among these, chronic central complications in DMO remain poorly understood, and in extreme cases, diabetes can e...
Authors: Juan Jose Ramos-Rodriguez, Daniel Sanchez-Sotano, Alberto Doblas-Marquez, Carmen Infante-Garcia, Simon Lubian-Lopez and Monica Garcia-Alloza
TREM2 variants have been identified as risk factors for Alzheimer’s disease (AD) and other neurodegenerative diseases (NDDs). Because TREM2 encodes a receptor exclusively expressed on immune cells, identificat...
Authors: Taylor R. Jay, Victoria E. von Saucken and Gary E. Landreth
Haploinsufficiency of GRN, the gene encoding progranulin (PGRN), causes frontotemporal lobar degeneration (FTLD), the second most common cause of early-onset dementia. Receptor-mediated lysosomal targeting has...
Authors: Chris W. Lee, Jeannette N. Stankowski, Jeannie Chew, Casey N. Cook, Ying-Wai Lam, Sandra Almeida, Yari Carlomagno, Kwok-Fai Lau, Mercedes Prudencio, Fen-Biao Gao, Matthew Bogyo, Dennis W. Dickson and Leonard Petrucelli
Autosomal-dominant mutations in the Park8 gene encoding Leucine-rich repeat kinase 2 (LRRK2) have been identified to cause up to 40% of the genetic forms of Parkinson’s disease. However, the function and molecula...
Authors: Alena Salašová, Chika Yokota, David Potěšil, Zbyněk Zdráhal, Vítězslav Bryja and Ernest Arenas
Excessive synaptic loss is thought to be one of the earliest events in Alzheimer’s disease (AD). However, the key mechanisms that maintain plasticity of synapses during adulthood or initiate synapse dysfunctio...
Authors: Anthony Bosson, Adrien Paumier, Sylvie Boisseau, Muriel Jacquier-Sarlin, Alain Buisson and Mireille Albrieux
Alpha-synuclein (α-syn) aggregation represents the pathological hallmark of α-synucleinopathies like Parkinson’s disease (PD), dementia with Lewy bodies (DLB), and multiple system atrophy (MSA). Toll-like rece...
Authors: Serena Venezia, Violetta Refolo, Alexia Polissidis, Leonidas Stefanis, Gregor K. Wenning and Nadia Stefanova
Given multiple studies of brain microRNA (miRNA) in relation to Alzheimer’s disease (AD) with few consistent results and the heterogeneity of this disease, the objective of this study was to explore their mech...
Authors: Ellis Patrick, Sathyapriya Rajagopal, Hon-Kit Andus Wong, Cristin McCabe, Jishu Xu, Anna Tang, Selina H. Imboywa, Julie A. Schneider, Nathalie Pochet, Anna M. Krichevsky, Lori B. Chibnik, David A. Bennett and Philip L. De Jager
Tauopathies are a broad set of neurodegenerative dementias characterized by aggregation of the tau protein into filamentous inclusions that can be found in neurons and glial cells. Activated microglia, astrocy...
Alzheimer’s Disease (AD) is the most prevalent progressive neurodegenerative disease; to date, no AD therapy has proven effective in delaying or preventing the disease course. In the search for novel therapeut...
Authors: Hunter S. Futch, Cara L. Croft, Van Q. Truong, Eric G. Krause and Todd E. Golde
Presenilins play a major role in the pathogenesis of Alzheimer’s disease, in which the hippocampus is particularly vulnerable. Previous studies of Presenilin function in the synapse, however, focused exclusive...
Authors: Sang Hun Lee, David Lutz, Mohanad Mossalam, Vadim Y. Bolshakov, Michael Frotscher and Jie Shen
Microglia are known as resident immune cells in the brain. β-amyloid (Aβ) plaques in the brain of Alzheimer’s disease (AD) are surrounded by microglia, but whether and how microglia affect the formation and ma...
Authors: Ruohe Zhao, Wanling Hu, Julia Tsai, Wei Li and Wen-Biao Gan
Amyotrophic Lateral Sclerosis (ALS) is a fatal and progressive neurodegenerative disorder with identified genetic causes representing a significant minority of all cases. A GGGGCC hexanucleotide repeat expansi...
Authors: Rustam Esanov, Gabriela Toro Cabrera, Nadja S. Andrade, Tania F. Gendron, Robert H. Brown Jr., Michael Benatar, Claes Wahlestedt, Christian Mueller and Zane Zeier
