Articles

Pharmacological inhibition of HDAC6 reverses cognitive impairment and tau pathology as a result of cisplatin treatment

Chemotherapy-induced cognitive impairment (CICI) is a commonly reported neurotoxic side effect of chemotherapy, occurring in up to 75% cancer patients. CICI manifests as decrements in working memory, executive...

Authors: Jiacheng Ma, XiaoJiao Huo, Matthew B. Jarpe, Annemieke Kavelaars and Cobi J. Heijnen

Alterations in mitochondria-endoplasmic reticulum connectivity in human brain biopsies from idiopathic normal pressure hydrocephalus patients

Idiopathic normal pressure hydrocephalus (iNPH) is a neuropathology with unknown cause characterised by gait impairment, cognitive decline and ventriculomegaly. These patients often present comorbidity with Al...

Authors: Nuno Santos Leal, Giacomo Dentoni, Bernadette Schreiner, Olli-Pekka Kämäräinen, Nelli Partanen, Sanna-Kaisa Herukka, Anne M Koivisto, Mikko Hiltunen, Tuomas Rauramaa, Ville Leinonen and Maria Ankarcrona

Tectal glioma as a distinct diagnostic entity: a comprehensive clinical, imaging, histologic and molecular analysis

Tectal glioma (TG) is a rare low-grade tumor occurring predominantly in the pediatric population. There has been no detailed analysis of molecular alterations in TG. Risk factors associated with inferior outco...

Authors: Anthony P. Y. Liu, Julie H. Harreld, Lisa M. Jacola, Madelyn Gero, Sahaja Acharya, Yahya Ghazwani, Shengjie Wu, Xiaoyu Li, Paul Klimo Jr, Amar Gajjar, Jason Chiang and Ibrahim Qaddoumi

Alzheimer’s associated amyloid and tau deposition co-localizes with a homeostatic myelin repair pathway in two mouse models of post-stroke mixed dementia

The goal of this study was to determine the chronic impact of stroke on the manifestation of Alzheimer’s disease (AD) related pathology and behavioral impairments in mice. To accomplish this goal, we used two ...

Authors: Thuy-Vi V. Nguyen, Megan Hayes, Jacob C. Zbesko, Jennifer B. Frye, Nicole R. Congrove, Nadia P. Belichenko, Brian S. McKay, Frank M. Longo and Kristian P. Doyle

Neurodegeneration in SCA14 is associated with increased PKCγ kinase activity, mislocalization and aggregation

Spinocerebellar ataxia type 14 (SCA14) is a subtype of the autosomal dominant cerebellar ataxias that is characterized by slowly progressive cerebellar dysfunction and neurodegeneration. SCA14 is caused by mut...

Authors: Maggie M. K. Wong, Stephanie D. Hoekstra, Jane Vowles, Lauren M. Watson, Geraint Fuller, Andrea H. Németh, Sally A. Cowley, Olaf Ansorge, Kevin Talbot and Esther B. E. Becker

The susceptibility of cochlear outer hair cells to cyclodextrin is not related to their electromotile activity

Niemann-Pick Type C1 (NPC1) disease is a fatal neurovisceral disorder caused by dysfunction of NPC1 protein, which plays a role in intracellular cholesterol trafficking. The cholesterol-chelating agent, 2-hydr...

Authors: Yingjie Zhou, Satoe Takahashi, Kazuaki Homma, Chongwen Duan, Jason Zheng, Mary Ann Cheatham and Jing Zheng

Correction to: preserving prion strain identity upon replication of prions in vitro using recombinant prion protein

Figure 6 of the original publication [1] contained an error in the Wavenumber in panels B and C. The wavenumbers 1616 (Cm-1) in panels B and C should have been 1516 (cm-1). The updated figure has been publishe...

Authors: Natallia Makarava, Regina Savtchenko, Peter Lasch, Michael Beekes and Ilia V Baskakov

Rapid dissemination of alpha-synuclein seeds through neural circuits in an in-vivo prion-like seeding experiment

Accumulating evidence suggests that the lesions of Parkinson’s disease (PD) expand due to transneuronal spreading of fibrils composed of misfolded alpha-synuclein (a-syn), over the course of 5–10 years. Howeve...

Authors: Ayami Okuzumi, Masaru Kurosawa, Taku Hatano, Masashi Takanashi, Shuuko Nojiri, Takeshi Fukuhara, Tomoyuki Yamanaka, Haruko Miyazaki, Saki Yoshinaga, Yoshiaki Furukawa, Tomomi Shimogori, Nobutaka Hattori and Nobuyuki Nukina

Oligodendrogliomas, IDH-mutant and 1p/19q-codeleted, arising during teenage years often lack TERT promoter mutation that is typical of their adult counterparts

Authors: Julieann Lee, Angelica R. Putnam, Samuel H. Chesier, Anuradha Banerjee, Corey Raffel, Jessica Van Ziffle, Courtney Onodera, James P. Grenert, Boris C. Bastian, Arie Perry and David A. Solomon

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD

Authors: Matteo Garibaldi, Fabiana Fattori, Carlo Augusto Bortolotti, Guy Brochier, Clemence Labasse, Margherita Verardo, Emilia Servian-Morilla, Lara Gibellini, Marcello Pinti, Giulia Di Rocco, Salvatore Raffa, Elena Maria Pennisi, Enrico Silvio Bertini, Carmen Paradas, Norma Beatriz Romero and Giovanni Antonini

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

Authors: Valérie Biancalana, Norma B. Romero, Inger Johanne Thuestad, Jaakko Ignatius, Janne Kataja, Maria Gardberg, Delphine Héron, Edoardo Malfatti, Anders Oldfors and Jocelyn Laporte

Preserving prion strain identity upon replication of prions in vitro using recombinant prion protein

Last decade witnessed an enormous progress in generating authentic infectious prions or PrP^Sc in vitro using recombinant prion protein (rPrP). Previous work established that rPrP that lacks posttranslational modi...

Authors: Natallia Makarava, Regina Savtchenko, Peter Lasch, Michael Beekes and Ilia V. Baskakov

The complement system in glioblastoma multiforme

The human complement system is represents the main effector arm of innate immunity and its ambivalent function in cancer has been subject of ongoing dispute. Glioma stem-like cells (GSC) residing in specific n...

Authors: T. A. M. Bouwens van der Vlis, J. M. Kros, D. A. M. Mustafa, R. T. A. van Wijck, L. Ackermans, P. M. van Hagen and P. J. van der Spek

Degeneration of human photosensitive retinal ganglion cells may explain sleep and circadian rhythms disorders in Parkinson’s disease

Parkinson’s disease (PD) patients often suffer from non-motor symptoms like sleep dysregulation, mood disturbances or circadian rhythms dysfunction. The melanopsin-containing retinal ganglion cells are involve...

Authors: Isabel Ortuño-Lizarán, Gema Esquiva, Thomas G. Beach, Geidy E. Serrano, Charles H. Adler, Pedro Lax and Nicolás Cuenca

Somatostatin receptor 2A protein expression characterizes anaplastic oligodendrogliomas with favorable outcome

Diffuse gliomas are classified according to the 2016 WHO Classification of Tumors of the Central Nervous System, which now defines entities by both histology and molecular features. Somatostatin receptor subty...

Authors: Romain Appay, Emeline Tabouret, Mehdi Touat, Catherine Carpentier, Carole Colin, François Ducray, Ahmed Idbaih, Karima Mokhtari, Emmanuelle Uro-Coste, Caroline Dehais and Dominique Figarella-Branger

Systemic infection modifies the neuroinflammatory response in late stage Alzheimer’s disease

Clinical studies indicate that systemic infections accelerate cognitive decline in Alzheimer’s disease. Animal models suggest that this may be due to enhanced pro-inflammatory changes in the brain. We have per...

Authors: Sonja Rakic, Yat M. A. Hung, Matthew Smith, Denise So, Hannah M. Tayler, William Varney, Joe Wild, Scott Harris, Clive Holmes, Seth Love, William Stewart, James A. R. Nicoll and Delphine Boche

Unique microglia recovery population revealed by single-cell RNAseq following neurodegeneration

Microglia are brain immune cells that constantly survey their environment to maintain homeostasis. Enhanced microglial reactivity and proliferation are typical hallmarks of neurodegenerative diseases. Whether ...

Authors: Tuan Leng Tay, Sagar, Jana Dautzenberg, Dominic Grün and Marco Prinz

Hypoxic pre-conditioning suppresses experimental autoimmune encephalomyelitis by modifying multiple properties of blood vessels

While hypoxic pre-conditioning protects against neurological disease the underlying mechanisms have yet to be fully defined. As chronic mild hypoxia (CMH, 10% O₂) triggers profound vascular remodeling in the cent...

Authors: Sebok K. Halder, Ravi Kant and Richard Milner

Analysis of cerebrospinal fluid metabolites in patients with primary or metastatic central nervous system tumors

Cancer cells have altered cellular metabolism. Mutations in genes associated with key metabolic pathways (e.g., isocitrate dehydrogenase 1 and 2, IDH1/IDH2) are important drivers of cancer, including central nerv...

Authors: Leomar Y. Ballester, Guangrong Lu, Soheil Zorofchian, Venkatrao Vantaku, Vasanta Putluri, Yuanqing Yan, Octavio Arevalo, Ping Zhu, Roy F. Riascos, Arun Sreekumar, Yoshua Esquenazi, Nagireddy Putluri and Jay-Jiguang Zhu

Nuclear poly(ADP-ribose) activity is a therapeutic target in amyotrophic lateral sclerosis

Amyotrophic lateral sclerosis (ALS) is a devastating and fatal motor neuron disease. Diagnosis typically occurs in the fifth decade of life and the disease progresses rapidly leading to death within ~ 2–5 year...

Authors: L. McGurk, J. Mojsilovic-Petrovic, V. M. Van Deerlin, J. Shorter, R. G. Kalb, V. M. Lee, J. Q. Trojanowski, E. B. Lee and N. M. Bonini

A novel SPEG mutation causes non-compaction cardiomyopathy and neuropathy in a floppy infant with centronuclear myopathy

Authors: Haicui Wang, Anne Schänzer, Birgit Kampschulte, Hülya-Sevcan Daimagüler, Thushiha Logeswaran, Hannah Schlierbach, Jutta Petzinger, Harald Ehrhardt, Andreas Hahn and Sebahattin Cirak

Anti-tau conformational scFv MC1 antibody efficiently reduces pathological tau species in adult JNPL3 mice

Tau, the main component of the neurofibrillary tangles (NFTs), is an attractive target for immunotherapy in Alzheimer’s disease (AD) and other tauopathies. MC1/Alz50 are currently the only antibodies targeting...

Authors: Francesca Vitale, Luca Giliberto, Santiago Ruiz, Kristen Steslow, Philippe Marambaud and Cristina d’Abramo

Akt and mTORC1 signaling as predictive biomarkers for the EGFR antibody nimotuzumab in glioblastoma

Glioblastoma (GB) is the most frequent primary brain tumor in adults with a dismal prognosis despite aggressive treatment including surgical resection, radiotherapy and chemotherapy with the alkylating agent t...

Authors: Michael W. Ronellenfitsch, Pia S. Zeiner, Michel Mittelbronn, Hans Urban, Torsten Pietsch, Dirk Reuter, Christian Senft, Joachim P. Steinbach, Manfred Westphal and Patrick N. Harter

CSF H3F3A K27M circulating tumor DNA copy number quantifies tumor growth and in vitro treatment response

Authors: Stefanie Stallard, Masha G. Savelieff, Kyle Wierzbicki, Brendan Mullan, Zachary Miklja, Amy Bruzek, Taylor Garcia, Ruby Siada, Bailey Anderson, Benjamin H. Singer, Rintaro Hashizume, Angel M. Carcaboso, Kaitlin Q. McMurray, Jason Heth, Karin Muraszko, Patricia L. Robertson…

Membrane binding, internalization, and sorting of alpha-synuclein in the cell

Alpha-synuclein (aSyn) plays a crucial role in Parkinson’s disease (PD) and other synucleinopathies, since it misfolds and accumulates in typical proteinaceous inclusions. While the function of aSyn is thought...

Authors: Caterina Masaracchia, Marilena Hnida, Ellen Gerhardt, Tomás Lopes da Fonseca, Anna Villar-Pique, Tiago Branco, Markus A. Stahlberg, Camin Dean, Claudio O. Fernández, Ira Milosevic and Tiago F. Outeiro

PrP^res deposition in the retina is a common finding of sporadic, familial and iatrogenic Creutzfeldt-Jakob diseases (CJD)

Authors: Masaki Takao, Hiroaki Kimura, Tetsuyuki Kitamoto and Ban Mihara

E90 subunit vaccine protects mice from Zika virus infection and microcephaly

Zika virus (ZIKV) became a global threat due to its unprecedented outbreak and its association with congenital malformations such as microcephaly in developing fetuses and neonates. There are currently no effe...

Authors: Xingliang Zhu, Chunfeng Li, Shabbir Khan Afridi, Shulong Zu, Jesse W. Xu, Natalie Quanquin, Heng Yang, Genhong Cheng and Zhiheng Xu

CNS-border associated macrophages respond to acute ischemic stroke attracting granulocytes and promoting vascular leakage

The central nervous system (CNS) contains several types of immune cells located in specific anatomic compartments. Macrophages reside at the CNS borders surrounding the brain vessels, in leptomeningeal spaces ...

Authors: Jordi Pedragosa, Angélica Salas-Perdomo, Mattia Gallizioli, Roger Cugota, Francesc Miró-Mur, Ferran Briansó, Carles Justicia, Fernando Pérez-Asensio, Leonardo Marquez-Kisinousky, Xabier Urra, Anna Gieryng, Bozena Kaminska, Angel Chamorro and Anna M. Planas

Different curcumin forms selectively bind fibrillar amyloid beta in post mortem Alzheimer’s disease brains: Implications for in-vivo diagnostics

The combined fluorescent and Aβ-binding properties of the dietary spice curcumin could yield diagnostic purpose in the search for a non-invasive Aβ-biomarker for Alzheimer’s disease (AD). However, evidence on ...

Authors: Jurre den Haan, Tjado H. J. Morrema, Annemieke J. Rozemuller, Femke H. Bouwman and Jeroen J. M. Hoozemans

Compromised astrocyte function and survival negatively impact neurons in infantile neuronal ceroid lipofuscinosis

The neuronal ceroid lipofuscinoses (NCLs) are the most common cause of childhood dementia and are invariably fatal. Early localized glial activation occurs in these disorders, and accurately predicts where neu...

Authors: Jenny Lange, Luke J. Haslett, Emyr Lloyd-Evans, Jennifer M. Pocock, Mark S. Sands, Brenda P. Williams and Jonathan D. Cooper

Neutrophil elastase inhibition effectively rescued angiopoietin-1 decrease and inhibits glial scar after spinal cord injury

After spinal cord injury (SCI), neutrophil elastase (NE) released at injury site disrupts vascular endothelium integrity and stabilization. Angiopoietins (ANGPTs) are vascular growth factors that play an impor...

Authors: Hemant Kumar, Hyemin Choi, Min-Jae Jo, Hari Prasad Joshi, Manjunatha Muttigi, Dario Bonanomi, Sung Bum Kim, Eunmi Ban, Aeri Kim, Soo-Hong Lee, Kyoung-Tae Kim, Seil Sohn, Xiang Zeng and Inbo Han

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