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https://www.readbyqxmd.com/read/29156730/generation-of-patient-specific-human-neural-stem-cells-from-niemann-pick-disease-type-c-patient-derived-fibroblasts
#1
Eun-Ah Sung, Kyung-Rok Yu, Ji-Hee Shin, Yoojin Seo, Hyung-Sik Kim, Myung Guen Koog, Insung Kang, Jae-Jun Kim, Byung-Chul Lee, Tae-Hoon Shin, Jin Young Lee, Seunghee Lee, Tae-Wook Kang, Soon Won Choi, Kyung-Sun Kang
Niemann-Pick disease type C (NPC) is a neurodegenerative and lysosomal lipid storage disorder, characterized by the abnormal accumulation of unesterified cholesterol and glycolipids, which is caused by mutations in the NPC1 genes. Here, we report the generation of human induced neural stem cells from NPC patient-derived fibroblasts (NPC-iNSCs) using only two reprogramming factors SOX2 and HMGA2 without going through the pluripotent state. NPC-iNSCs were stably expandable and differentiated into neurons, astrocytes, and oligodendrocytes...
October 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/29156377/establishment-of-induced-pluripotent-stem-cell-line-zzui010-a-from-an-alzheimer-s-disease-patient-carrying-an-app-gene-mutation
#2
Zhilei Wang, Pei Zhang, Yanlin Wang, Changhe Shi, Na Jing, Huifang Sun, Jing Yang, Yutao Liu, Xuejun Wen, Jin Zhang, Shoutao Zhang, Yuming Xu
Alzheimer's disease (AD) is one of the most common neurodegenerative disorders. Previous studies have identified mutations in several genes, such as amyloid precursor protein (APP), presenilin-1 (PSEN1), and presenilin-2 (PSEN2), in patients with early-onset (<65years) familial AD. Recently, a patient with an APP gene mutation was identified; the dermal fibroblasts of the patient were obtained and a line of induced pluripotent stem cells (iPSCs) was successfully generated using the Sendai-virus (SeV) delivery system...
November 3, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29156207/intracellular-protein-degradation-from-a-vague-idea-thru-the-lysosome-and-the-ubiquitin-proteasome-system-and-onto-human-diseases-and-drug-targeting
#3
REVIEW
Aaron Ciechanover
Between the 1950s and 1980s, scientists were focusing mostly on how the genetic code is transcribed to RNA and translated to proteins, but how proteins are degraded has remained a neglected research area. With the discovery of the lysosome by Christian de Duve it was assumed that cellular proteins are degraded within this organelle. Yet, several independent lines of experimental evidence strongly suggested that intracellular proteolysis is largely non-lysosomal, but the mechanisms involved remained obscure...
December 2017: Best Practice & Research. Clinical Haematology
https://www.readbyqxmd.com/read/29155979/epigenetic-editing-of-the-dlg4-psd95-gene-improves-cognition-in-aged-and-alzheimer-s-disease-mice
#4
Fernando J Bustos, Estibaliz Ampuero, Nur Jury, Rodrigo Aguilar, Fahimeh Falahi, Jorge Toledo, Juan Ahumada, Jaclyn Lata, Paula Cubillos, Berta Henríquez, Miguel V Guerra, Jimmy Stehberg, Rachael L Neve, Nibaldo C Inestrosa, Ursula Wyneken, Marco Fuenzalida, Steffen Härtel, Miguel Sena-Esteves, Lorena Varela-Nallar, Marianne G Rots, Martin Montecino, Brigitte van Zundert
The Dlg4 gene encodes for post-synaptic density protein 95 (PSD95), a major synaptic protein that clusters glutamate receptors and is critical for plasticity. PSD95 levels are diminished in ageing and neurodegenerative disorders, including Alzheimer's disease and Huntington's disease. The epigenetic mechanisms that (dys)regulate transcription of Dlg4/PSD95, or other plasticity genes, are largely unknown, limiting the development of targeted epigenome therapy. We analysed the Dlg4/PSD95 epigenetic landscape in hippocampal tissue and designed a Dlg4/PSD95 gene-targeting strategy: a Dlg4/PSD95 zinc finger DNA-binding domain was engineered and fused to effector domains to either repress (G9a, Suvdel76, SKD) or activate (VP64) transcription, generating artificial transcription factors or epigenetic editors (methylating H3K9)...
November 16, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29155766/assessment-of-blood-brain-barrier-permeability-by-intravenous-infusion-of-fitc-labeled-albumin-in-a-mouse-model-of-neurodegenerative-disease
#5
Alba Di Pardo, Salvatore Castaldo, Luca Capocci, Enrico Amico, Maglione Vittorio
Disruption of blood-brain barrier (BBB) integrity is a common feature for different neurological and neurodegenerative diseases. Although the interplay between perturbed BBB homeostasis and the pathogenesis of brain disorders needs further investigation, the development and validation of a reliable procedure to accurately detect BBB alterations may be crucial and represent a useful tool for potentially predicting disease progression and developing targeted therapeutic strategies. Here, we present an easy and efficient procedure for evaluating BBB leakage in a neurodegenerative condition like that occurring in a preclinical mouse model of Huntington disease, in which defects in the permeability of BBB are clearly detectable precociously in the disease...
November 8, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29155752/sagittal-plane-kinematic-gait-analysis-in-c57bl-6-mice-subjected-to-mog35-55-induced-experimental-autoimmune-encephalomyelitis
#6
Maximillian Dj Fiander, Matthew Aj Chedrawe, Anna-Claire Lamport, Turgay Akay, George S Robertson
Kinematic gait analysis in the sagittal plane has frequently been used to characterize motor deficits in multiple sclerosis (MS). We describe the application of these techniques to identify gait deficits in a mouse model of MS, known as experimental autoimmune encephalomyelitis (EAE). Paralysis and motor deficits in mice subjected to EAE are typically assessed using a clinical scoring scale. However, this scale yields only ordinal data that provides little information about the precise nature of the motor deficits...
November 4, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29154925/membrane-cholesterol-depletion-in-cortical-neurons-highlights-altered-nmda-receptor-functionality-in-a-mouse-model-of-amyotrophic-lateral-sclerosis
#7
Alessia Antonini, Silvia Caioli, Luana Saba, Giulia Vindigni, Silvia Biocca, Nadia Canu, Cristina Zona
Amyotrophic Lateral Sclerosis (ALS) is a chronic neurodegenerative disease affecting upper and lower motor neurons, with unknown aetiology. Lipid rafts, cholesterol enriched microdomains of the plasma membrane, have been linked to neurodegenerative disorders like ALS. The NMDA-receptor subcellular localization in lipid rafts is known to play many roles, from modulating memory strength to neurotoxicity. In this study, performed on the widely used G93A mouse model of ALS, we have shown an equal content of total membrane cholesterol in Control and G93A cortical cultures...
November 14, 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29154879/perillyl-alcohol-alleviates-amyloid-%C3%AE-peptides-induced-mitochondrial-dysfunction-and-cytotoxicity-in-sh-sy5y-cells
#8
Mohammad Faraz Zafeer, Fakiha Firdaus, Faraz Ahmad, Rizwan Ullah, Ehraz Anis, Mohd Waseem, Asif Ali, Mohammad Mobarak Hossain
Alzheimer's disease (AD) is a progressive neurodegenerative disorder and the most common type of dementia in elderly ( >65years of age). Excessive extra cellular deposits of amyloid beta (Aβ) are a pathological feature of AD. Aβ can cause cell death through oxidative damage; recent studies have implicated opening of mPTP as a detrimental event in AD-related mitochondrial dysfunctions. Over the past few years, natural compounds with antioxidant properties have shown promise for intervention in AD.
November 14, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29154484/memantine-loaded-pegylated-biodegradable-nanoparticles-for-the-treatment-of-glaucoma
#9
Elena Sánchez-López, Maria Antonia Egea, Benjamin Michael Davis, Li Guo, Marta Espina, Amelia Maria Silva, Ana Cristina Calpena, Eliana Maria Barbosa Souto, Nivedita Ravindran, Miren Ettcheto, Antonio Camins, Maria Luisa García, Maria Francesca Cordeiro
Glaucoma is a multifactorial neurodegenerative disease associated with retinal ganglion cells (RGC) loss. Increasing reports of similarities in glaucoma and other neurodegenerative conditions have led to speculation that therapies for brain neurodegenerative disorders may also have potential as glaucoma therapies. Memantine is an N-methyl-d-aspartate (NMDA) antagonist approved for Alzheimer's disease treatment. Glutamate-induced excitotoxicity is implicated in glaucoma and NMDA receptor antagonism is advocated as a potential strategy for RGC preservation...
November 20, 2017: Small
https://www.readbyqxmd.com/read/29154270/ubisol-q10-a-nanomicellar-water-soluble-formulation-of-coq10-treatment-inhibits-alzheimer-type-behavioral-and-pathological-symptoms-in-a-double-transgenic%C3%A2-mouse%C3%A2-tgapeswe-%C3%A2-psen1de9-model-of-alzheimer-s-disease
#10
Krithika Muthukumaran, Annie Kanwar, Caleb Vegh, Alexandra Marginean, Austin Elliott, Nicholas Guilbeault, Alexander Badour, Marianna Sikorska, Jerome Cohen, Siyaram Pandey
 Alzheimer's disease (AD) is one of the most common neurodegenerative pathologies for which there are no effective therapies to halt disease progression. Given the increase in the incidence of this disorder, there is an urgent need for pharmacological intervention. Unfortunately, recent clinical trials produced disappointing results. Molecular mechanisms of AD are converging on the notion that mitochondrial dysfunction, oxidative stress, and accumulation of dysfunctional proteins are involved in AD pathology...
November 16, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/29154038/dna-damage-and-neurodegenerative-phenotypes-in-aged-ciz1-null-mice
#11
Mohammad Moshahid Khan, Jianfeng Xiao, Damini Patel, Mark S LeDoux
Cell-cycle dysfunction and faulty DNA repair are closely intertwined pathobiological processes that may contribute to several neurodegenerative disorders. CDKN1A interacting zinc finger protein 1 (CIZ1) plays a critical role in DNA replication and cell-cycle progression at the G1/S checkpoint. Germline or somatic variants in CIZ1 have been linked to several neural and extra-neural diseases. Recently, we showed that germline knockout of Ciz1 is associated with motor and hematological abnormalities in young adult mice...
November 16, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29153989/psen1-mutant-ipsc-derived-model-reveals-severe-astrocyte-pathology-in-alzheimer-s-disease
#12
Minna Oksanen, Andrew J Petersen, Nikolay Naumenko, Katja Puttonen, Šárka Lehtonen, Max Gubert Olivé, Anastasia Shakirzyanova, Stina Leskelä, Timo Sarajärvi, Matti Viitanen, Juha O Rinne, Mikko Hiltunen, Annakaisa Haapasalo, Rashid Giniatullin, Pasi Tavi, Su-Chun Zhang, Katja M Kanninen, Riikka H Hämäläinen, Jari Koistinaho
Alzheimer's disease (AD) is a common neurodegenerative disorder and the leading cause of cognitive impairment. Due to insufficient understanding of the disease mechanisms, there are no efficient therapies for AD. Most studies have focused on neuronal cells, but astrocytes have also been suggested to contribute to AD pathology. We describe here the generation of functional astrocytes from induced pluripotent stem cells (iPSCs) derived from AD patients with PSEN1 ΔE9 mutation, as well as healthy and gene-corrected isogenic controls...
November 12, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/29153601/neurodegenerative-diseases-the-immunological-perspective
#13
REVIEW
Monica Molteni, Carlo Rossetti
Increasing evidence supports the notion that the neurodegenerative process occurring in Alzheimer's disease (AD), Parkinson's disease (PD) and Amyotrophic Lateral Sclerosis (ALS) does not only imply the neuronal compartment but also involves a strong interaction with the immunological cells of the Central Nervous System (CNS), primarily microglia. Starting from the observation that the neurodegenerative disorders are frequent in elderly individuals, who have an immunological background that possibly favors this process, it is evident that a dysregulation of innate immune response triggered by misfolded and aggregated proteins, or by endogenous molecules released by injured neurons, directly contributes to disease pathogenesis and progression...
December 15, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/29153600/subclinical-retinal-atrophy-in-the-unaffected-fellow-eyes-of-multiple-sclerosis-and-neuromyelitis-optica
#14
Tetsuya Akaishi, Kimihiko Kaneko, Noriko Himori, Takayuki Takeshita, Toshiyuki Takahashi, Toru Nakazawa, Masashi Aoki, Ichiro Nakashima
We compared the retinal thickness in the unaffected eyes among the following subtypes of unilateral optic neuritis (ON): multiple sclerosis (MS-ON), neuromyelitis optica spectrum disorder with anti-AQP4 autoantibody (AQP4-ON), patients with serum anti-MOG antibody (MOG-ON), and idiopathic ON. In the chronic phase, macular GCC and circum-papillary RNFL in the unaffected eyes were both atrophied in MS-ON and AQP4-ON, but were not atrophied in the others. Titers of anti-AQP4-Ab was suggested to be associated with such latent neurodegenerative process in AQP4-ON...
December 15, 2017: Journal of Neuroimmunology
https://www.readbyqxmd.com/read/29153291/structural-perturbation-by-arsenic-triggers-the-aggregation-of-hen-egg-white-lysozyme-by-promoting-oligomers-formation
#15
Neelakant Varma, Inderbhan Singh, Mohinder Singh Dahiya, Vijay Kumar Ravi, Satish Kumar
Arsenic trioxide is one of the most common metallic pollutants entering the food chain both by human activities and nature. Its entry inside the living organism through food, air and water results into the accumulation of heavy metal in several tissues which manifest several metabolic or hormonal disorders. Till now the effect of arsenic trioxide on protein misfolding and aggregation culminating into several neurodegenerative disorders is poorly understood. In the present study, we reveal the aggregation process of Hen Egg White Lysozyme (HEWL) in presence of arsenic trioxide (As2O3) at physiological conditions...
November 16, 2017: International Journal of Biological Macromolecules
https://www.readbyqxmd.com/read/29153277/a-novel-rogdi-gene-mutation-is-associated-with-kohlschutter-tonz-syndrome
#16
Nalini Aswath, Sankar Narayanan Ramakrishnan, Nithya Teresa, Arvind Ramanathan
OBJECTIVE: Kohlschutter-tonz syndrome (KTS) is a rare neurodegenerative disorder that presents with seizures, developmental regression, characteristic hypoplastic dental enamel indicative of amelogenesis imperfecta and dysmorphologies. Genetic analysis has identified loss-of-function mutations within the coding region of the ROGDI gene in KTS patients of European or Jewish decent. In the present study, we have investigated the genetic status of ROGDI in a fourteen year old South Indian patient of Dravidian race born to consanguineous parents, who was clinically diagnosed with KTS STUDY DESIGN: To confirm the clinical diagnosis of KTS in the patient, primers were designed flanking each of the 11 exons of the ROGDI gene...
October 12, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/29152527/novel-lrpprc-mutation-in-a-boy-with-mild-leigh-syndrome-french-canadian-type-outside-of-qu%C3%A3-bec
#17
Velda Xinying Han, Teresa S Tan, Furene S Wang, Stacey Kiat-Hong Tay
Background: Leigh syndrome, French-Canadian type is unique to patients from a genetic isolate in the Saguenay-Lac-Saint-Jean region of Québec. It has also been recently described in 10 patients with LRPPRC mutation outside of Québec. It is an autosomal recessive genetic disorder with fatal metabolic crisis and severe neurological morbidity in infancy caused by LRPPRC mutation. Methods and Results: The authors report a boy with a novel LRPPRC compound heterozygous missense mutations c...
January 2017: Child neurology open
https://www.readbyqxmd.com/read/29152224/recent-insights-into-perk-dependent-signaling-from-the-stressed-endoplasmic-reticulum
#18
REVIEW
Alexander McQuiston, J Alan Diehl
The unfolded protein response (UPR) is an evolutionarily conserved stress response to intra- and extracellular conditions that disrupt endoplasmic reticulum (ER) protein-folding capacity. The UPR is engaged by a variety of disease conditions, including most cancers as well as both metabolic and neurodegenerative disorders. Three transmembrane transducers-PERK, IRE1, and ATF6-are responsible for activating downstream signaling pathways that mediate the UPR and subsequent stress response pathways. PERK, an ER resident transmembrane protein kinase, initiates both pro-apoptotic and pro-survival signaling pathways...
2017: F1000Research
https://www.readbyqxmd.com/read/29151587/suppression-of-mapk11-or-hipk3-reduces-mutant-huntingtin-levels-in-huntington-s-disease-models
#19
Meng Yu, Yuhua Fu, Yijiang Liang, Haikun Song, Yao Yao, Peng Wu, Yuwei Yao, Yuyin Pan, Xue Wen, Lixiang Ma, Saiyin Hexige, Yu Ding, Shouqing Luo, Boxun Lu
Most neurodegenerative disorders are associated with accumulation of disease-relevant proteins. Among them, Huntington disease (HD) is of particular interest because of its monogenetic nature. HD is mainly caused by cytotoxicity of the defective protein encoded by the mutant Huntingtin gene (HTT). Thus, lowering mutant HTT protein (mHTT) levels would be a promising treatment strategy for HD. Here we report two kinases HIPK3 and MAPK11 as positive modulators of mHTT levels both in cells and in vivo. Both kinases regulate mHTT via their kinase activities, suggesting that inhibiting these kinases may have therapeutic values...
October 13, 2017: Cell Research
https://www.readbyqxmd.com/read/29151170/the-function-of-the-cellular-prion-protein-in-health-and-disease
#20
REVIEW
Joel C Watts, Matthew E C Bourkas, Hamza Arshad
The essential role of the cellular prion protein (PrP(C)) in prion disorders such as Creutzfeldt-Jakob disease is well documented. Moreover, evidence is accumulating that PrP(C) may act as a receptor for protein aggregates and transduce neurotoxic signals in more common neurodegenerative disorders, such as Alzheimer's disease. Although the pathological roles of PrP(C) have been thoroughly characterized, a general consensus on its physiological function within the brain has not yet been established. Knockout studies in various organisms, ranging from zebrafish to mice, have implicated PrP(C) in a diverse range of nervous system-related activities that include a key role in the maintenance of peripheral nerve myelination as well as a general ability to protect against neurotoxic stimuli...
November 18, 2017: Acta Neuropathologica
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