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https://www.readbyqxmd.com/read/29053860/clinicopathological-correlations-in-behavioural-variant-frontotemporal-dementia
#1
David C Perry, Jesse A Brown, Katherine L Possin, Samir Datta, Andrew Trujillo, Anneliese Radke, Anna Karydas, John Kornak, Ana C Sias, Gil D Rabinovici, Maria Luisa Gorno-Tempini, Adam L Boxer, Mary De May, Katherine P Rankin, Virginia E Sturm, Suzee E Lee, Brandy R Matthews, Aimee W Kao, Keith A Vossel, Maria Carmela Tartaglia, Zachary A Miller, Sang Won Seo, Manu Sidhu, Stephanie E Gaus, Alissa L Nana, Jose Norberto S Vargas, Ji-Hye L Hwang, Rik Ossenkoppele, Alainna B Brown, Eric J Huang, Giovanni Coppola, Howard J Rosen, Daniel Geschwind, John Q Trojanowski, Lea T Grinberg, Joel H Kramer, Bruce L Miller, William W Seeley
Accurately predicting the underlying neuropathological diagnosis in patients with behavioural variant frontotemporal dementia (bvFTD) poses a daunting challenge for clinicians but will be critical for the success of disease-modifying therapies. We sought to improve pathological prediction by exploring clinicopathological correlations in a large bvFTD cohort. Among 438 patients in whom bvFTD was either the top or an alternative possible clinical diagnosis, 117 had available autopsy data, including 98 with a primary pathological diagnosis of frontotemporal lobar degeneration (FTLD), 15 with Alzheimer's disease, and four with amyotrophic lateral sclerosis who lacked neurodegenerative disease-related pathology outside of the motor system...
October 6, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29053785/progranulin-a-new-avenue-towards-the-understanding-and-treatment-of-neurodegenerative-disease
#2
Babykumari P Chitramuthu, Hugh P J Bennett, Andrew Bateman
Progranulin, a secreted glycoprotein, is encoded in humans by the single GRN gene. Progranulin consists of seven and a half, tandemly repeated, non-identical copies of the 12 cysteine granulin motif. Many cellular processes and diseases are associated with this unique pleiotropic factor that include, but are not limited to, embryogenesis, tumorigenesis, inflammation, wound repair, neurodegeneration and lysosome function. Haploinsufficiency caused by autosomal dominant mutations within the GRN gene leads to frontotemporal lobar degeneration, a progressive neuronal atrophy that presents in patients as frontotemporal dementia...
August 18, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29050323/histone-deacetylase-inhibitor-thailandepsin-a-activates-notch-signaling-and-suppresses-neuroendocrine-cancer-cell-growth-in-vivo
#3
Samuel Jang, Andrew Janssen, Zviadi Aburjania, Matthew B Robers, April Harrison, Ajitha Dammalapati, Yi-Qiang Cheng, Herbert Chen, Renata Jaskula-Sztul
Novel therapies for neuroendocrine (NE) cancers are desperately needed as they frequently present as metastatic disease and cause debilitating symptoms by secreting excessive hormones. Induction of Notch isoforms has a tumor suppressive effect in NE cancer cell lines, and we have observed that histone deacetylase inhibitors (HDACi) potently activate Notch. In this study, we describe the potential for Burkholderia thailandensis-derived class I HDACi thailandepsin A (TDP-A) as a Notch activator and therapeutic agent against NE cancer...
September 19, 2017: Oncotarget
https://www.readbyqxmd.com/read/29044416/disease-and-region-specificity-of-granulin-immunopositivities-in-alzheimer-disease-and-frontotemporal-lobar-degeneration
#4
Qinwen Mao, Dongyang Wang, Yanqing Li, Missia Kohler, Jayson Wilson, Zachary Parton, Bella Shmaltsuyeva, Demirkan Gursel, Rosa Rademakers, Sandra Weintraub, Marek-Marsel Mesulam, Haibin Xia, Eileen H Bigio
Heterozygous loss-of-function mutations in GRN, the progranulin gene, which result in progranulin (PGRN) protein haploinsufficiency, are a major cause of frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP). PGRN is composed of seven and a half repeats of a highly conserved granulin motif that is cleaved to produce the granulin peptides A-G and paragranulin. To better understand the role of PGRN and granulin (Grn) peptides in the pathogenesis of neurodegeneration, we evaluated PGRN/Grn in brains of patients with Alzheimer disease, FTLD-TDP type A with or without GRN mutations, and normal individuals, using a panel of monoclonal antibodies against Grn peptides A-G...
November 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/29038104/safety-of-oral-dofetilide-reloading-for-treatment-of-atrial-arrhythmias
#5
Jae Hyung Cho, So Jin Youn, JoEllyn C Moore, Roxanne Kyriakakis, Carolyn Vekstein, Michael Militello, Stacy M Poe, Kathy Wolski, Patrick J Tchou, Niraj Varma, Mark J Niebauer, Mandeep Bhargava, Walid I Saliba, Oussama M Wazni, Bruce D Lindsay, Bruce L Wilkoff, Mina K Chung
BACKGROUND: Although dofetilide labeling states that the drug must be initiated or reinitiated with continuous electrocardiographic monitoring and in the presence of trained personnel, the risks of dofetilide reloading justifying repeat hospitalization have not been investigated. METHODS AND RESULTS: Patients admitted for dofetilide reloading for atrial arrhythmias were retrospectively reviewed. The need for dose adjustment and the incidence of torsades de pointes (TdP) were identified...
October 2017: Circulation. Arrhythmia and Electrophysiology
https://www.readbyqxmd.com/read/29037423/unique-ecg-presentations-and-clinical-management-of-a-symptomatic-lqt2-female-carrying-a-novel-de-novo-kcnh2-mutation
#6
Chunlin Yin, Ping Zhang, Jing Yang, Li Zhang
A 26-year-old woman, 12 days in postpartum, developed recurrent syncope and cardiac arrest. Her ECG revealed QT-prolongation associated with LQT2-specific T-U wave patterns, T wave alternans, long QT-dependent torsade de pointes (TdP) and ventricular fibrillation (VF). She also had intermittent LBBB (80bpm) on alternate beats and RBBB at sinus tachycardia (113bpm). Family genotyping revealed a novel de novo missense mutation G604C of KCNH2. Propranolol slowed heart rate and further prolonged QT interval (610ms) that caused TdP recurrence...
August 17, 2017: Journal of Electrocardiology
https://www.readbyqxmd.com/read/29036611/progranulin-mediated-deficiency-of-cathepsin-d-results-in-ftd-and-ncl-like-phenotypes-in-neurons-derived-from-ftd-patients
#7
Clarissa Valdez, Yvette C Wong, Michael Schwake, Guojun Bu, Zbigniew K Wszolek, Dimitri Krainc
Frontotemporal dementia (FTD) encompasses a group of neurodegenerative disorders characterized by cognitive and behavioral impairments. Heterozygous mutations in progranulin (PGRN) cause familial FTD and result in decreased PGRN expression, while homozygous mutations result in complete loss of PGRN expression and lead to the neurodegenerative lysosomal storage disorder neuronal ceroid lipofuscinosis (NCL). However, how dose-dependent PGRN mutations contribute to these two different diseases is not well understood...
September 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29033641/do-low-serum-uch-l1-and-tdp-43-levels-indicate-disturbed-ubiquitin-proteosome-system-in-autism-spectrum-disorder
#8
İhsan Çetin, İhsan Tezdiğ, Mahmut Cem Tarakçioğlu, Muhammed Tayyib Kadak, Ömer Faruk Demirel, Ömer Faruk Özer, Fırat Erdoğan, Burak Doğangün
INTRODUCTION: The mechanism of ubiquitination-related abnormalities causing neural development problems is still unclear. We examined the association between autism and serum transactive response DNA-binding protein-43 (TDP-43) and ubiquitin c-terminal hydrolase-L1 (UCH-L1) levels, both of which are members of the ubiquitin-proteosome system. METHODS: We measured serum levels of TDP-43 and UCH-L1 in 24 children with autism and 24 healthy children. Childhood Autism Rating Scale (CARS) was used to assess symptom severity at admission...
September 2017: Noro Psikiyatri Arsivi
https://www.readbyqxmd.com/read/29031901/als-and-ftd-insights-into-the-disease-mechanisms-and-therapeutic-targets
#9
Rajka M Liscic
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are neurodegenerative disorders, related by signs of deteriorating motor and cognitive functions, and short survival. The causes are still largely unknown and no effective treatment currently exists. It has been shown that FTLD may coexist with ALS. The overlap between ALS and frontotemporal dementia (FTD), the clinical syndrome associated with FTLD, occurs at clinical, genetic, and pathological levels. The hallmark proteins of the pathognomonic inclusions are SOD-1, TDP-43 or FUS, rarely the disease is caused by mutations in the respective genes...
October 11, 2017: European Journal of Pharmacology
https://www.readbyqxmd.com/read/29030972/white-clover-fractions-as-protein-source-for-monogastrics-dry-matter-digestibility-and-protein-digestibility-corrected-amino-acid-scores
#10
Lene Stødkilde, Vinni K Damborg, Henry Jørgensen, Helle N Laerke, Søren K Jensen
BACKGROUND: The aim was to evaluate white clover as an alternative protein source for monogastrics. White clover plant and leaves were processed using a screw-press resulting in a solid pulp and a juice from which protein was acid-precipitated. The chemical composition of all fractions was determined and digestibility of dry matter (DM) and protein was assessed in an experiment with growing rats. RESULTS: Protein concentrates were produced with crude protein (CP) content of 451 g/kg DM and 530 g/kg DM for white clover plant and leaves, respectively and a pulp with CP content of 313 and 374 g/kg DM from plant and leaves, respectively...
October 14, 2017: Journal of the Science of Food and Agriculture
https://www.readbyqxmd.com/read/29029362/altered-tdp-43-dependent-splicing-in-hspb8-related-distal-hereditary-motor-neuropathy-and-myofibrillar-myopathy
#11
Andrea Cortese, Matilde Laurà, Carlo Casali, Ichizo Nishino, Yukiko K Hayashi, Stefania Magri, Franco Taroni, Cristiana Stuani, Paola Saveri, Maurizio Moggio, Michela Ripolone, A Prelle, C Pisciotta, A Sagnelli, Anna Pichiecchio, Mary M Reilly, Emanuele Buratti, Davide Pareyson
INTRODUCTION: Mutations in the small heat shock protein 22 gene (HSPB8) have been associated with Charcot-Marie-Tooth type 2L, distal hereditary motor neuropathy (dHMN) type IIa and, more recently, distal myopathy/myofibrillar myopathy (MFM) with protein aggregates and TDP-43 inclusions. OBJECTIVE: To report a novel family with HSPB8 (K141E) -related dHMN/MFM and to investigate, in a patient muscle biopsy, whether the presence of protein aggregates was paralleled by altered TDP-43 function...
October 13, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29024655/lost-in-transportation-nucleocytoplasmic-transport-defects-in-als-and-other-neurodegenerative-diseases
#12
REVIEW
Hong Joo Kim, J Paul Taylor
Amyotrophic lateral sclerosis (ALS) is a progressive, fatal neurodegenerative disease characterized by degeneration of upper and lower motor neurons in the brain and spinal cord. The hallmark pathological feature in most cases of ALS is nuclear depletion and cytoplasmic accumulation of the protein TDP-43 in degenerating neurons. Consistent with this pattern of intracellular protein redistribution, impaired nucleocytoplasmic trafficking has emerged as a mechanism contributing to ALS pathology. Dysfunction in nucleocytoplasmic transport is also an emerging theme in physiological aging and other related neurodegenerative diseases, such as Huntington's and Alzheimer's diseases...
October 11, 2017: Neuron
https://www.readbyqxmd.com/read/29021858/landiolol-suppression-of-electrical-storm-of-torsades-de-pointes-in-patients-with-congenital-long-qt-syndrome-type-2-and-myocardial-ischemia
#13
Ryota Kitajima, Takeshi Aiba, Tsukasa Kamakura, Kohei Ishibashi, Mitsuru Wada, Yuko Inoue, Koji Miyamoto, Hideo Okamura, Takashi Noda, Satoshi Nagase, Yu Kataoka, Yasuhide Asaumi, Teruo Noguchi, Satoshi Yasuda, Kengo Kusano
A 76-year-old man who had been diagnosed with long-QT syndrome type 2 had frequent syncopal attacks. The electrocardiogram was monitored, and frequent torsades de pointes (TdP) was detected despite administration of conventional medications: oral propranolol, verapamil, intravenous magnesium sulfate, verapamil, and lidocaine. In contrast, 2 μg/kg/min landiolol could completely suppress TdP. Subsequently, an implantable cardioverter defibrillator was placed, and he was diagnosed with silent myocardial ischemia using myocardial perfusion scintigraphy and coronary angiography...
October 2017: Journal of Arrhythmia
https://www.readbyqxmd.com/read/28993637/htlv-1-bzip-factor-suppresses-tdp1-expression-through-inhibition-of-nrf-1-in-adult-t-cell-leukemia
#14
Yoko Takiuchi, Masayuki Kobayashi, Kohei Tada, Fumie Iwai, Maki Sakurada, Shigeki Hirabayashi, Kayoko Nagata, Kotaro Shirakawa, Keisuke Shindo, Jun-Ichirou Yasunaga, Yasuhiro Murakawa, Vinodh Rajapakse, Yves Pommier, Masao Matsuoka, Akifumi Takaori-Kondo
Adult T-cell leukemia (ATL) is an aggressive T-cell malignancy caused by human T-cell leukemia virus type 1 (HTLV-1). We recently reported that abacavir, an anti-HIV-1 drug, potently and selectively kills ATL cells. This effect was attributed to the reduced expression of tyrosyl-DNA-phosphodiesterase 1 (TDP1), a DNA repair enzyme, in ATL cells. However, the molecular mechanism underlying the downregulation of TDP1 in ATL cells remains elusive. Here we identified the core promoter of the TDP1 gene, which contains a conserved nuclear respiratory factor 1 (NRF-1) binding site...
October 9, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28988390/topographic-distribution-of-brain-iron-deposition-and-small-cerebrovascular-lesions-in-amyotrophic-lateral-sclerosis-and-in-frontotemporal-lobar-degeneration-a-post-mortem-7-0-tesla-magnetic-resonance-imaging-study-with-neuropathological-correlates
#15
Jacques De Reuck, David Devos, Caroline Moreau, Florent Auger, Nicolas Durieux, Vincent Deramecourt, Florence Pasquier, Claude-Alain Maurage, Charlotte Cordonnier, Didier Leys, Regis Bordet
Amyotrophic lateral sclerosis (ALS) is associated with frontotemporal lobar degeneration (FTLD) in 15% of the cases. A neuropathological continuity between ALS and FTLD-TDP is suspected. The present post-mortem 7.0-tesla magnetic resonance imaging (MRI) study compares the topographic distribution of iron (Fe) deposition and the incidence of small cerebrovascular lesions in ALS and in FTLD brains. Seventy-eight post-mortem brains underwent 7.0-tesla MRI. The patients consisted of 12 with ALS, 38 with FTLD, and 28 controls...
October 7, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28988034/the-physical-forces-mediating-self-association-and-phase-separation-in-the-c-terminal-domain-of-tdp-43
#16
Hao-Ru Li, Tsai-Chen Chen, Chih-Lun Hsiao, Lin Shi, Chi-Yuan Chou, Jie-Rong Huang
The TAR DNA-binding protein of 43kDa (TDP-43) has been identified as the main component of amyotrophic lateral sclerosis (ALS) cytoplasmic inclusions. The link between this proteinopathy and TDP-43's intrinsically disordered C-terminal domain is well known, but recently also, this domain has been shown to be involved in the formation of the membraneless organelles that mediate TDP-43's functions. The mechanisms that underpin the liquid-liquid phase separation (LLPS) of these membraneless organelles undergo remain elusive...
October 4, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28987183/amyotrophic-lateral-sclerosis-and-non-tau-frontotemporal-lobar-degeneration
#17
Tibor Hortobágyi, Nigel J Cairns
Amyotrophic lateral sclerosis (ALS) is the major motor neuron disorder. The hallmark features are progressive, irreversible motor neuron loss leading to denervation atrophy of muscles and death, usually within 5 years of disease onset. The hallmark proteins of the pathognomonic inclusions are SOD-1, TDP-43, or FUS; rarely the disease is caused by mutation of the respective genes. Frontotemporal lobar degeneration (FTLD) is genetically, neuropathologically, and clinically heterogeneous and may present as a dementia with three major clinical syndromes dominated by behavioral, language, and motor disorders, respectively...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28987166/neurodegeneration-with-brain-iron-accumulation
#18
Sarah Wiethoff, Henry Houlden
Neurodegeneration with brain iron accumulation (NBIA) describes a heterogeneous group of inherited rare clinical and genetic entities. Clinical core symptoms comprise a combination of early-onset dystonia, pyramidal and extrapyramidal signs with ataxia, cognitive decline, behavioral abnormalities, and retinal and axonal neuropathy variably accompanying these core features. Increased nonphysiologic, nonaging-associated brain iron, most pronounced in the basal ganglia, is often termed the unifying characteristic of these clinically variable disorders, though occurrence and extent can be fluctuating or even absent...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28986472/flortaucipir-tau-pet-imaging-in-semantic-variant-primary-progressive-aphasia
#19
Sara J Makaretz, Megan Quimby, Jessica Collins, Nikos Makris, Scott McGinnis, Aaron Schultz, Neil Vasdev, Keith A Johnson, Bradford C Dickerson
OBJECTIVE: The semantic variant of primary progressive aphasia (svPPA) is typically associated with frontotemporal lobar degeneration (FTLD) with longTAR DNA-binding protein (TDP)-43-positive neuropil threads and dystrophic neurites (type C), and is only rarely due to a primary tauopathy or Alzheimer's disease. We undertook this study to investigate the localisation and magnitude of the presumed tau Positron Emission Tomography (PET) tracer [(18)F]Flortaucipir (FTP; also known as T807 or AV1451) in patients with svPPA, hypothesising that most patients would not show tracer uptake different from controls...
October 6, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28984110/neuronal-cytoplasmic-inclusions-in-tau-tdp-43-and-fus-molecular-subtypes-of-frontotemporal-lobar-degeneration-share-similar-spatial-patterns
#20
Richard A Armstrong
The 'prion-like' transfer of pathogenic proteins may play a role in the pathogenesis of frontotemporal lobar degeneration (FTLD). Propagation of such proteins along anatomical pathways may give rise to specific spatial patterns of the 'signature' neuronal cytoplasmic inclusions (NCI) characteristic of these disorders. Hence, the spatial patterns of the NCI were compared in three molecular subtypes of FTLD: (1) two variants of FTLD-tau, viz. cortico-basal degeneration (CBD) and Pick's disease (PiD), (2) FTLD with transactive response (TAR) DNA-binding protein 43(TDP-43)-immunoreactive inclusions (FTLD-TDP), and (3) FTLD with 'fused in sarcoma' (FUS)-immunoreactive inclusions (FTLD-FUS)...
2017: Folia Neuropathologica
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