Articles

Novel antibodies reveal presynaptic localization of C9orf72 protein and reduced protein levels in C9orf72 mutation carriers

Hexanucleotide repeat expansion in C9orf72 is the most common genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis, but the pathogenic mechanism of this mutation remains unresolved. Haploins...

Authors: Petra Frick, Chantal Sellier, Ian R. A. Mackenzie, Chieh-Yu Cheng, Julie Tahraoui-Bories, Cecile Martinat, R. Jeroen Pasterkamp, Johannes Prudlo, Dieter Edbauer, Mustapha Oulad-Abdelghani, Regina Feederle, Nicolas Charlet-Berguerand and Manuela Neumann

RNA binding proteins co-localize with small tau inclusions in tauopathy

The development of insoluble, intracellular neurofibrillary tangles composed of the microtubule-associated protein tau is a defining feature of tauopathies, including Alzheimer’s disease (AD). Accumulating evi...

Authors: Brandon F. Maziuk, Daniel J. Apicco, Anna Lourdes Cruz, Lulu Jiang, Peter E. A. Ash, Edroaldo Lummertz da Rocha, Cheng Zhang, Wai Haung Yu, John Leszyk, Jose F. Abisambra, Hu Li and Benjamin Wolozin

The involvement of tau in nucleolar transcription and the stress response

Tau is known for its pathological role in neurodegenerative diseases, including Alzheimer’s disease (AD) and other tauopathies. Tau is found in many subcellular compartments such as the cytosol and the nucleus...

Authors: Mahmoud B. Maina, Laura J. Bailey, Sherin Wagih, Luca Biasetti, Saskia J. Pollack, James P. Quinn, Julian R. Thorpe, Aidan J. Doherty and Louise C. Serpell

ABCA1 haplodeficiency affects the brain transcriptome following traumatic brain injury in mice expressing human APOE isoforms

Expression of human Apolipoprotein E (APOE) modulates the inflammatory response in an isoform specific manner, with APOE4 isoform eliciting a stronger pro-inflammatory response, suggesting a possible mechanism fo...

Authors: Emilie L. Castranio, Cody M. Wolfe, Kyong Nyon Nam, Florent Letronne, Nicholas F. Fitz, Iliya Lefterov and Radosveta Koldamova

Persistent accumulation of unrepaired DNA damage in rat cortical neurons: nuclear organization and ChIP-seq analysis of damaged DNA

Neurons are highly vulnerable to DNA damage induced by genotoxic agents such as topoisomerase activity, oxidative stress, ionizing radiation (IR) and chemotherapeutic drugs. To avert the detrimental effects of...

Authors: Jorge Mata-Garrido, Olga Tapia, Iñigo Casafont, Maria T. Berciano, Ana Cuadrado and Miguel Lafarga

Medulloblastoma therapy generates risk of a poorly-prognostic H3 wild-type subgroup of diffuse intrinsic pontine glioma: a report from the International DIPG Registry

With improved survivorship in medulloblastoma, there has been an increasing incidence of late complications. To date, no studies have specifically addressed the risk of radiation-associated diffuse intrinsic p...

Authors: Hunter C. Gits, Maia Anderson, Stefanie Stallard, Drew Pratt, Becky Zon, Christopher Howell, Chandan Kumar-Sinha, Pankaj Vats, Katayoon Kasaian, Daniel Polan, Martha Matuszak, Daniel E. Spratt, Marcia Leonard, Tingting Qin, Lili Zhao, James Leach…

Optic nerve as a source of activated retinal microglia post-injury

Using mice expressing green fluorescent protein (GFP) from a transgenic CD11c promoter we found that a controlled optic nerve crush (ONC) injury attracted GFP^hi retinal myeloid cells to the dying retinal ganglion...

Authors: Neal D. Heuss, Mark J. Pierson, Heidi Roehrich, Scott W. McPherson, Andrea L. Gram, Ling Li and Dale S. Gregerson

Characterisation of tau in the human and rodent enteric nervous system under physiological conditions and in tauopathy

Tau is normally a highly soluble phosphoprotein found predominantly in neurons. Six different isoforms of tau are expressed in the adult human CNS. Under pathological conditions, phosphorylated tau aggregates ...

Authors: Arthur Lionnet, Matthew A. Wade, Anne-Gaëlle Corbillé, Alice Prigent, Sébastien Paillusson, Maddalena Tasselli, Jacques Gonzales, Emilie Durieu, Malvyne Rolli-Derkinderen, Emmanuel Coron, Emilie Duchalais, Michel Neunlist, Michael S. Perkinton, Diane P. Hanger, Wendy Noble and Pascal Derkinderen

Neuropathology and cognitive performance in self-reported cognitively healthy centenarians

With aging, the incidence of neuropathological hallmarks of neurodegenerative diseases increases in the brains of cognitively healthy individuals. It is currently unclear to what extent these hallmarks associa...

Authors: Andrea B. Ganz, Nina Beker, Marc Hulsman, Sietske Sikkes, Netherlands Brain Bank, Philip Scheltens, August B. Smit, Annemieke J. M. Rozemuller, Jeroen J. M. Hoozemans and Henne Holstege

Poly-GR dipeptide repeat polymers correlate with neurodegeneration and Clinicopathological subtypes in C9ORF72-related brain disease

Frontotemporal lobar degeneration (FTLD) is heterogeneous in clinical presentation, neuropathological characteristics and genetics. An expanded GGGGCC hexanucleotide repeat in C9ORF72 is the most common genetic c...

Authors: Nobutaka Sakae, Kevin F. Bieniek, Yong-Jie Zhang, Kelly Ross, Tania F. Gendron, Melissa E. Murray, Rosa Rademakers, Leonard Petrucelli and Dennis W. Dickson

The presubiculum is preserved from neurodegenerative changes in Alzheimer’s disease

In the majority of affected brain regions the pathological hallmarks of Alzheimer’s disease (AD) are β-amyloid (Aβ) deposits in the form of diffuse and neuritic plaques, tau pathology in the form of neurofibri...

Authors: Christina E. Murray, Priya Gami-Patel, Eleni Gkanatsiou, Gunnar Brinkmalm, Erik Portelius, Oliver Wirths, Wendy Heywood, Kaj Blennow, Jorge Ghiso, Janice L. Holton, Kevin Mills, Henrik Zetterberg, Tamas Revesz and Tammaryn Lashley

Rac1 activation links tau hyperphosphorylation and Aβ dysmetabolism in Alzheimer’s disease

One of the earliest pathological features characterizing Alzheimer’s disease (AD) is the loss of dendritic spines. Among the many factors potentially mediating this loss of neuronal connectivity, the contribut...

Authors: Mirta Borin, Claudia Saraceno, Marcella Catania, Erika Lorenzetto, Valeria Pontelli, Anna Paterlini, Silvia Fostinelli, Anna Avesani, Giuseppe Di Fede, Gianluigi Zanusso, Luisa Benussi, Giuliano Binetti, Simone Zorzan, Roberta Ghidoni, Mario Buffelli and Silvia Bolognin

Doublecortin-expressing cell types in temporal lobe epilepsy

Doublecortin (DCX) is widely regarded as a marker of immature and migrating neurons during development. While DCX expression persists in adults, particularly in the temporal lobe and neurogenic regions, it is ...

Authors: Joan Y. W. Liu, Mar Matarin, Cheryl Reeves, Andrew W. McEvoy, Anna Miserocchi, Pamela Thompson, Sanjay M. Sisodiya and Maria Thom

Enhancement of therapeutic potential of a naturally occurring human antibody targeting a phosphorylated Ser⁴²² containing epitope on pathological tau

Aggregation of tau protein and spreading of tau aggregates are pivotal pathological processes in a range of neurological disorders. Accumulating evidence suggests that immunotherapy targeting tau may be a viab...

Authors: Jeroen van Ameijde, Rosa Crespo, Roosmarijn Janson, Jarek Juraszek, Berdien Siregar, Hanneke Verveen, Imke Sprengers, Tariq Nahar, Jeroen J. Hoozemans, Stefan Steinbacher, Roland Willems, Lore Delbroek, Marianne Borgers, Koen Dockx, Kristof Van Kolen, Marc Mercken…

Sporadic Parkinson’s disease derived neuronal cells show disease-specific mRNA and small RNA signatures with abundant deregulation of piRNAs

Differentiated neurons established via iPSCs from patients that suffer from familial Parkinson’s disease (PD) have allowed insights into the mechanisms of neurodegeneration. In the larger cohort of patients wi...

Authors: Markus Schulze, Annika Sommer, Sonja Plötz, Michaela Farrell, Beate Winner, Janina Grosch, Jürgen Winkler and Markus J. Riemenschneider

Ablation of tau causes an olfactory deficit in a murine model of Parkinson’s disease

Parkinson’s disease is diagnosed upon the presentation of motor symptoms, resulting from substantial degeneration of dopaminergic neurons in the midbrain. Prior to diagnosis, there is a lengthy prodromal stage...

Authors: Leah C. Beauchamp, Jacky Chan, Lin W. Hung, Benjamin S. Padman, Laura J. Vella, Xiang M. Liu, Bradley Coleman, Ashley I. Bush, Michael Lazarou, Andrew F. Hill, Laura Jacobson and Kevin J. Barnham

The age of onset and evolution of Braak tangle stage and Thal amyloid pathology of Alzheimer’s disease in individuals with Down syndrome

While post mortem studies have identified the major cell types and functional systems affected in Alzheimer’s disease (AD) the initial sites and molecular characteristics of pathology are still unclear. Becaus...

Authors: Yvonne S. Davidson, Andrew Robinson, Vee P. Prasher and David M. A. Mann

Dipeptide repeat proteins activate a heat shock response found in C9ORF72-ALS/FTLD patients

A hexanucleotide (GGGGCC) repeat expansion in C9ORF72 is the most common genetic contributor to amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). Reduced expression of the C9ORF72 ...

Authors: Daniel A. Mordes, Mercedes Prudencio, Lindsey D. Goodman, Joseph R. Klim, Rob Moccia, Francesco Limone, Olli Pietilainen, Kaitavjeet Chowdhary, Dennis W. Dickson, Rosa Rademakers, Nancy M. Bonini, Leonard Petrucelli and Kevin Eggan

Activity of translation regulator eukaryotic elongation factor-2 kinase is increased in Parkinson disease brain and its inhibition reduces alpha synuclein toxicity

Parkinson disease (PD) is the second most common neurodegenerative disorder and the leading neurodegenerative cause of motor disability. Pathologic accumulation of aggregated alpha synuclein (AS) protein in br...

Authors: Asad Jan, Brandon Jansonius, Alberto Delaidelli, Forum Bhanshali, Yi Andy An, Nelson Ferreira, Lisa M. Smits, Gian Luca Negri, Jens C. Schwamborn, Poul H. Jensen, Ian R. Mackenzie, Stefan Taubert and Poul H. Sorensen

Neuroimaging-pathological correlations of [¹⁸F]THK5351 PET in progressive supranuclear palsy

Recent positron emission tomography (PET) studies have demonstrated the accumulation of tau PET tracer in the affected region of progressive supranuclear palsy (PSP) cases. To confirm the binding target of rad...

Authors: Aiko Ishiki, Ryuichi Harada, Hideaki Kai, Naomi Sato, Tomoko Totsune, Naoki Tomita, Shoichi Watanuki, Kotaro Hiraoka, Yoichi Ishikawa, Yoshihito Funaki, Ren Iwata, Shozo Furumoto, Manabu Tashiro, Hironobu Sasano, Tetsuyuki Kitamoto, Yukitsuka Kudo…

Phosphorylation of different tau sites during progression of Alzheimer’s disease

Alzheimer’s disease is characterized by accumulation of amyloid plaques and tau aggregates in several cortical brain regions. Tau phosphorylation causes formation of neurofibrillary tangles and neuropil thread...

Authors: Joerg Neddens, Magdalena Temmel, Stefanie Flunkert, Bianca Kerschbaumer, Christina Hoeller, Tina Loeffler, Vera Niederkofler, Guenther Daum, Johannes Attems and Birgit Hutter-Paier

Non-inflammatory tumor microenvironment of diffuse intrinsic pontine glioma

Diffuse intrinsic pontine glioma (DIPG) is a universally fatal malignancy of the childhood central nervous system, with a median overall survival of 9–11 months. We have previously shown that primary DIPG tiss...

Authors: Grant L. Lin, Surya Nagaraja, Mariella G. Filbin, Mario L. Suvà, Hannes Vogel and Michelle Monje

Sequential stages and distribution patterns of aging-related tau astrogliopathy (ARTAG) in the human brain

Aging-related tau astrogliopathy (ARTAG) describes tau pathology in astrocytes in different locations and anatomical regions. In the present study we addressed the question of whether sequential distribution p...

Authors: Gabor G. Kovacs, Sharon X. Xie, John L. Robinson, Edward B. Lee, Douglas H. Smith, Theresa Schuck, Virginia M.-Y. Lee and John Q. Trojanowski

Network-based analysis of oligodendrogliomas predicts novel cancer gene candidates within the region of the 1p/19q co-deletion

Oligodendrogliomas are primary human brain tumors with a characteristic 1p/19q co-deletion of important prognostic relevance, but little is known about the pathology of this chromosomal mutation. We developed ...

Authors: Josef Gladitz, Barbara Klink and Michael Seifert

Proteomic analysis of Medulloblastoma reveals functional biology with translational potential

Genomic characterization has begun to redefine diagnostic classifications of cancers. However, it remains a challenge to infer disease phenotypes from genomic alterations alone. To help realize the promise of ...

Authors: Samuel Rivero-Hinojosa, Ling San Lau, Mojca Stampar, Jerome Staal, Huizhen Zhang, Heather Gordish-Dressman, Paul A. Northcott, Stefan M. Pfister, Michael D. Taylor, Kristy J. Brown and Brian R. Rood

The genetic landscape of ganglioglioma

Ganglioglioma is the most common epilepsy-associated neoplasm that accounts for approximately 2% of all primary brain tumors. While a subset of gangliogliomas are known to harbor the activating p.V600E mutatio...

Authors: Melike Pekmezci, Javier E. Villanueva-Meyer, Benjamin Goode, Jessica Van Ziffle, Courtney Onodera, James P. Grenert, Boris C. Bastian, Gabriel Chamyan, Ossama M. Maher, Ziad Khatib, Bette K. Kleinschmidt-DeMasters, David Samuel, Sabine Mueller, Anuradha Banerjee, Jennifer L. Clarke, Tabitha Cooney…

Proteomics analysis identifies new markers associated with capillary cerebral amyloid angiopathy in Alzheimer’s disease

Alzheimer’s disease (AD) is characterized by amyloid beta (Aβ) deposits as plaques in the parenchyma and in the walls of cortical and leptomeningeal blood vessels of the brain called cerebral amyloid angiopath...

Authors: David C. Hondius, Kristel N. Eigenhuis, Tjado H. J. Morrema, Roel C. van der Schors, Pim van Nierop, Marianna Bugiani, Ka Wan Li, Jeroen J. M. Hoozemans, August B. Smit and Annemieke J. M. Rozemuller

LRRK2 activity does not dramatically alter α-synuclein pathology in primary neurons

Mutations in leucine-rich repeat kinase (LRRK2) are the most common cause of heritable Parkinson’s disease (PD), and the most common mutations in LRRK2 lead to elevated kinase activity. For these reasons, inhi...

Authors: Michael X. Henderson, Chao Peng, John Q. Trojanowski and Virginia M. Y. Lee

Environmental enrichment reverses Aβ pathology during pregnancy in a mouse model of Alzheimer’s disease

Several studies suggest that women have a higher risk to develop Alzheimer’s disease (AD) than men. In particular, the number of pregnancies was shown to be a risk factor for AD and women with several pregnanc...

Authors: Stephanie Ziegler-Waldkirch, Karin Marksteiner, Johannes Stoll, Paolo d´Errico, Marina Friesen, Denise Eiler, Lea Neudel, Verena Sturn, Isabel Opper, Moumita Datta, Marco Prinz and Melanie Meyer-Luehmann

A common antigenic motif recognized by naturally occurring human V_H5–51/V_L4–1 anti-tau antibodies with distinct functionalities

Misfolding and aggregation of tau protein are closely associated with the onset and progression of Alzheimer’s Disease (AD). By interrogating IgG⁺ memory B cells from asymptomatic donors with tau peptides, we hav...

Authors: Adrian Apetri, Rosa Crespo, Jarek Juraszek, Gabriel Pascual, Roosmarijn Janson, Xueyong Zhu, Heng Zhang, Elissa Keogh, Trevin Holland, Jay Wadia, Hanneke Verveen, Berdien Siregar, Michael Mrosek, Renske Taggenbrock, Jeroenvan Ameijde, Hanna Inganäs…

Loss of Tmem106b is unable to ameliorate frontotemporal dementia-like phenotypes in an AAV mouse model of C9ORF72-repeat induced toxicity

Loss-of-function mutations in progranulin (GRN) and a non-coding (GGGGCC)_n hexanucleotide repeat expansions in C9ORF72 are the two most common genetic causes of frontotemporal lobar degeneration with aggregates o...

Authors: Alexandra M. Nicholson, Xiaolai Zhou, Ralph B. Perkerson, Tammee M. Parsons, Jeannie Chew, Mieu Brooks, Mariely DeJesus-Hernandez, NiCole A. Finch, Billie J. Matchett, Aishe Kurti, Karen R. Jansen-West, Emilie Perkerson, Lillian Daughrity, Monica Castanedes-Casey, Linda Rousseau, Virginia Phillips…

Interrupted CAG expansions in ATXN2 gene expand the genetic spectrum of frontotemporal dementias

Authors: Clémence Fournier, Vincent Anquetil, Agnès Camuzat, Sandrine Stirati-Buron, Véronique Sazdovitch, Laura Molina-Porcel, Sabrina Turbant, Daisy Rinaldi, Raquel Sánchez-Valle, Mathieu Barbier, Morwena Latouche, Giovanni Stevanin, Danielle Seilhean, Alexis Brice, Charles Duyckaerts and Isabelle Le Ber

Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy

Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required fo...

Authors: Tamar E. Sztal, Emily A. McKaige, Caitlin Williams, Viola Oorschot, Georg Ramm and Robert J. Bryson-Richardson

A53T-α-synuclein overexpression in murine locus coeruleus induces Parkinson’s disease-like pathology in neurons and glia

Degeneration of noradrenergic locus coeruleus neurons occurs during the prodromal phase of Parkinson’s disease and contributes to a variety of non-motor symptoms, e.g. depression, anxiety and REM sleep behavio...

Authors: Martin Timo Henrich, Fanni Fruzsina Geibl, Bolam Lee, Wei-Hua Chiu, James Benjamin Koprich, Jonathan Michael Brotchie, Lars Timmermann, Niels Decher, Lina Anita Matschke and Wolfgang Hermann Oertel

Astrocyte remodeling without gliosis precedes optic nerve axonopathy

Astroyctes serve myriad functions but are especially critical in white matter tracts, where energy-demanding axons propagate action potentials great distances between neurons. Axonal dependence on astrocytes f...

Authors: Melissa L. Cooper, John W. Collyer and David J. Calkins

A new TAO kinase inhibitor reduces tau phosphorylation at sites associated with neurodegeneration in human tauopathies

In Alzheimer’s disease (AD) and related tauopathies, the microtubule-associated protein tau is highly phosphorylated and aggregates to form neurofibrillary tangles that are characteristic of these neurodegener...

Authors: Caterina Giacomini, Chuay-Yeng Koo, Natalia Yankova, Ignatius A. Tavares, Selina Wray, Wendy Noble, Diane P. Hanger and Jonathan D. H. Morris

Systemic inhibition of the membrane attack complex impedes neuroinflammation in chronic relapsing experimental autoimmune encephalomyelitis

The complement system is a key driver of neuroinflammation. Activation of complement by all pathways, results in the formation of the anaphylatoxin C5a and the membrane attack complex (MAC). Both initiate pro-...

Authors: Iliana Michailidou, Aldo Jongejan, Jeroen P. Vreijling, Theodosia Georgakopoulou, Marit B. de Wissel, Ruud A. Wolterman, Patrick Ruizendaal, Ngaisah Klar-Mohamad, Anita E. Grootemaat, Daisy I. Picavet, Vinod Kumar, Cees van Kooten, Trent M. Woodruff, B. Paul Morgan, Nicole N. van der Wel, Valeria Ramaglia…

α-Synuclein fibril-induced paradoxical structural and functional defects in hippocampal neurons

Neuronal inclusions composed of α-synuclein (α-syn) characterize Parkinson’s Disease (PD) and Dementia with Lewy bodies (DLB). Cognitive dysfunction defines DLB, and up to 80% of PD patients develop dementia. ...

Authors: Jessica M. Froula, Benjamin W. Henderson, Jose Carlos Gonzalez, Jada H. Vaden, John W. Mclean, Yumei Wu, Gokulakrishna Banumurthy, Linda Overstreet-Wadiche, Jeremy H. Herskowitz and Laura A. Volpicelli-Daley

Large inter- and intra-case variability of first generation tau PET ligand binding in neurodegenerative dementias

Imaging of pathological tau with positron emission tomography (PET) has the potential to allow early diagnosis of the dementias and monitoring of disease progression, including assessment of therapeutic interv...

Authors: Melissa C. Wren, Tammaryn Lashley, Erik Årstad and Kerstin Sander

TDP-43 pathology in anterior temporal pole cortex in aging and Alzheimer’s disease

TDP-43 pathology was investigated in the anterior temporal pole cortex (ATPC) and orbital frontal cortex (OFC), regions often degenerated in frontotemporal lobar degenerations (FTLD), in aging and Alzheimer’s ...

Authors: Sukriti Nag, Lei Yu, Patricia A. Boyle, Sue E. Leurgans, David A. Bennett and Julie A. Schneider

D409H GBA1 mutation accelerates the progression of pathology in A53T α-synuclein transgenic mouse model

Heterozygous mutations in glucocerebrosidase 1 (GBA1) are a major genetic risk factor for Parkinson’s disease and Dementia with Lewy bodies. Mutations in GBA1 leads to GBA1 enzyme deficiency, and GBA1-associated ...

Authors: Donghoon Kim, Heehong Hwang, Seulah Choi, Sang Ho Kwon, Suhyun Lee, Jae Hong Park, SangMin Kim and Han Seok Ko

Genetic deletion of muscle RANK or selective inhibition of RANKL is not as effective as full-length OPG-fc in mitigating muscular dystrophy

Although there is a strong association between osteoporosis and skeletal muscle atrophy/dysfunction, the functional relevance of a particular biological pathway that regulates synchronously bone and skeletal m...

Authors: Sébastien S. Dufresne, Antoine Boulanger-Piette, Sabrina Bossé, Anteneh Argaw, Dounia Hamoudi, Laetitia Marcadet, Daniel Gamu, Val A. Fajardo, Hideo Yagita, Josef M. Penninger, A. Russell Tupling and Jérôme Frenette

Prion infectivity is encoded exclusively within the structure of proteinase K-resistant fragments of synthetically generated recombinant PrP^Sc

Transmissible spongiform encephalopathies, also known as prion diseases, are a group of fatal neurodegenerative disorders affecting both humans and animals. The central pathogenic event in prion disease is the...

Authors: Fei Wang, Xinhe Wang, Romany Abskharon and Jiyan Ma

Potent prion-like behaviors of pathogenic α-synuclein and evaluation of inactivation methods

The concept that abnormal protein aggregates show prion-like propagation between cells has been considered to explain the onset and progression of many neurodegenerative diseases. Indeed, both synthetic amyloi...

Authors: Airi Tarutani, Tetsuaki Arai, Shigeo Murayama, Shin-ichi Hisanaga and Masato Hasegawa

Phosphorylated TDP-43 (pTDP-43) aggregates in the axial skeletal muscle of patients with sporadic and familial amyotrophic lateral sclerosis

Muscle atrophy with weakness is a core feature of amyotrophic lateral sclerosis (ALS) that has long been attributed to motor neuron loss alone. However, several studies in ALS patients, and more so in animal m...

Authors: Matthew D. Cykowski, Suzanne Z. Powell, Joan W. Appel, Anithachristy S. Arumanayagam, Andreana L. Rivera and Stanley H. Appel

Zidovudine ameliorates pathology in the mouse model of Duchenne muscular dystrophy via P2RX7 purinoceptor antagonism

Duchenne muscular dystrophy (DMD) is the most common inherited muscle disorder that causes severe disability and death of young men. This disease is characterized by progressive muscle degeneration aggravated ...

Authors: Rasha Al-Khalidi, Chiara Panicucci, Paul Cox, Natalia Chira, Justyna Róg, Christopher N. J. Young, Rhiannon E. McGeehan, Kameshwari Ambati, Jayakrishna Ambati, Krzysztof Zabłocki, Elisabetta Gazzerro, Stephen Arkle, Claudio Bruno and Dariusz C. Górecki

Prion-like propagation of β-amyloid aggregates in the absence of APP overexpression

The amyloid cascade hypothesis posits that the initiating event in Alzheimer’s disease (AD) is the aggregation and deposition of the β-amyloid (Aβ) peptide, which is a proteolytic cleavage product of the amylo...

Authors: Alejandro Ruiz-Riquelme, Heather H. C. Lau, Erica Stuart, Adrienn N. Goczi, Zhilan Wang, Gerold Schmitt-Ulms and Joel C. Watts

Neuronal sphingosine kinase 2 subcellular localization is altered in Alzheimer’s disease brain

Alzheimer’s disease (AD) is characterized by the accumulation of β-amyloid (Aβ) peptides and hyperphosphorylated tau protein accompanied by neuronal loss. Aβ accumulation has been associated with an impaired s...

Authors: Gaëlle Dominguez, Marie-Lise Maddelein, Mélanie Pucelle, Yvan Nicaise, Claude-Alain Maurage, Charles Duyckaerts, Olivier Cuvillier and Marie-Bernadette Delisle

BRAF activating mutations involving the β3-αC loop in V600E-negative anaplastic pleomorphic xanthoastrocytoma

Authors: Drew Pratt, Sandra Camelo-Piragua, Kathryn McFadden, Denise Leung, Rajen Mody, Arul Chinnaiyan, Carl Koschmann and Sriram Venneti

Preventing mutant huntingtin proteolysis and intermittent fasting promote autophagy in models of Huntington disease

Huntington disease (HD) is caused by the expression of mutant huntingtin (mHTT) bearing a polyglutamine expansion. In HD, mHTT accumulation is accompanied by a dysfunction in basal autophagy, which manifests a...

Authors: Dagmar E. Ehrnhoefer, Dale D. O. Martin, Mandi E. Schmidt, Xiaofan Qiu, Safia Ladha, Nicholas S. Caron, Niels H. Skotte, Yen T. N. Nguyen, Kuljeet Vaid, Amber L. Southwell, Sabine Engemann, Sonia Franciosi and Michael R. Hayden