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https://www.readbyqxmd.com/read/28631941/analytical-characterization-of-methyl-%C3%AE-cyclodextrin-for-pharmacological-activity-to-reduce-lysosomal-cholesterol-accumulation-in-niemann-pick-disease-type-c1-cells
#1
Rong Li, Jon Hao, Hideji Fujiwara, Miao Xu, Shu Yang, Sheng Dai, Yan Long, Manju Swaroop, Changhui Li, Mylinh Vu, Juan J Marugan, Daniel S Ory, Wei Zheng
Methyl-β-cyclodextrin (MβCD) reduces lysosomal cholesterol accumulation in Niemann-Pick disease type C1 (NPC1) patient fibroblasts. However, the pharmacological activity of MβCD reported by different laboratories varies. To determine the potential causes of this variation, we analyzed the mass spectrum characteristics, pharmacological activity of three preparations of MβCDs, and the protein expression profiles of NPC1 patient fibroblasts after treatment with different sources of MβCDs. Our data revealed varied mass spectrum profiles and pharmacological activities on the reduction of lysosomal cholesterol accumulation in NPC1 fibroblasts for these three preparations of MβCDs obtained from different batches and different sources...
May 2017: Assay and Drug Development Technologies
https://www.readbyqxmd.com/read/28628618/solving-the-influence-maximization-problem-reveals-regulatory-organization-of-the-yeast-cell-cycle
#2
David L Gibbs, Ilya Shmulevich
The Influence Maximization Problem (IMP) aims to discover the set of nodes with the greatest influence on network dynamics. The problem has previously been applied in epidemiology and social network analysis. Here, we demonstrate the application to cell cycle regulatory network analysis for Saccharomyces cerevisiae. Fundamentally, gene regulation is linked to the flow of information. Therefore, our implementation of the IMP was framed as an information theoretic problem using network diffusion. Utilizing more than 28,000 regulatory edges from YeastMine, gene expression dynamics were encoded as edge weights using time lagged transfer entropy, a method for quantifying information transfer between variables...
June 19, 2017: PLoS Computational Biology
https://www.readbyqxmd.com/read/28628327/impact-of-the-niemann-pick-c1-gene-mutation-on-the-total-cellular-glycomics-of-cho-cells
#3
Jun-Ichi Furukawa, Minami Soga, Kazue Okada, Ikuko Yokota, Jinhua Piao, Tetsumi Irie, Takumi Era, Yasuro Shinohara
Niemann-Pick disease type C (NPC) is an autosomal recessive lipid storage disorder, and the majority of cases are caused by mutations in the NPC1 gene. In this study, we clarified how a single gene mutation in the NPC1 gene impacts the cellular glycome by analyzing the total glycomic expression profile of Chinese hamster ovary cell mutants defective in the Npc1 gene (Npc1 KO CHO cells). A number of glycomic alterations were identified, including increased expression of lactosylceramide, GM1, GM2, GD1, various neolacto-series glycosphingolipids, and sialyl-T (O-glycan), which was found to be the major sialylated protein-bound glycan, as well as various N-glycans, which were commonly both fucosylated and sialylated...
June 19, 2017: Journal of Proteome Research
https://www.readbyqxmd.com/read/28626941/binding-of-canonical-wnt-ligands-to-their-receptor-complexes-occurs-in-ordered-plasma-membrane-environments
#4
Erdinc Sezgin, Yagmur Azbazdar, Xue Wen Ng, Cathleen Teh, Kai Simons, Gilbert Weidinger, Thorsten Wohland, Christian Eggeling, Gunes Ozhan
While the cytosolic events of Wnt/β-catenin signaling (canonical Wnt signaling) pathway have been widely studied, only little is known about the molecular mechanisms involved in Wnt binding to its receptors at the plasma membrane. Here, we reveal the influence of the immediate plasma membrane environment on the canonical Wnt-receptor interaction. While the receptors are distributed both in ordered and disordered environments, Wnt binding to its receptors selectively occurs in more ordered membrane environments which appear to co-internalize with the Wnt-receptor complex...
June 19, 2017: FEBS Journal
https://www.readbyqxmd.com/read/28621106/a-rapid-and-efficient-screening-method-for-antibacterial-compound-producing-bacteria
#5
Sachithra Amarin Hettiarachchi, Su-Jin Lee, Youngdeuk Lee, Young-Kyung Kwon, Mahanama De Zoysa, Song Moon, Eunyoung Jo, Taeho Kim, Do-Hyung Kang, Soo-Jin Heo, Chulhong Oh
Antibacterial compounds are widely used in the treatment of human and animal diseases. The overuse of antibiotics has led to a rapid rise in the prevalence of drug-resistant bacteria, making the development of new antibacterial compounds essential. This study is focused on developing a fast and easy method for identifying marine bacteria that produce antibiotic compounds. Eight randomly selected marine target bacteria species (Agrococcus terreus, Bacillus algicola, Mesoflavibacter zeaxanthinifaciens, Pseudoalteromonas flavipulchra, P...
June 16, 2017: Journal of Microbiology and Biotechnology
https://www.readbyqxmd.com/read/28613987/methyl-%C3%AE-cyclodextrin-restores-impaired-autophagy-flux-in-niemann-pick-c1-deficient-cells-through-activation-of-ampk
#6
Sheng Dai, Andrés E Dulcey, Xin Hu, Christopher A Wassif, Forbes D Porter, Christopher P Austin, Daniel S Ory, Juan Marugan, Wei Zheng
The drug 2-hydroxypropyl-β-cyclodextrin (HPβCD) reduces lysosomal cholesterol accumulation in Niemann-Pick disease, type C (NPC) and has been advanced to human clinical trials. However, its mechanism of action for reducing cholesterol accumulation in NPC cells is uncertain and its molecular target is unknown. We found that methyl-β-cyclodextrin (MβCD), a potent analog of HPβCD, restored impaired macroautophagy/autophagy flux in Niemann-Pick disease, type C1 (NPC1) cells. This effect was mediated by a direct activation of AMP-activated protein kinase (AMPK), an upstream kinase in the autophagy pathway, through MβCD binding to its β-subunits...
June 14, 2017: Autophagy
https://www.readbyqxmd.com/read/28610891/n-butyl-deoxynojirimycin-delays-motor-deficits-cerebellar-microgliosis-and-purkinje-cell-loss-in-a-mouse-model-of-mucolipidosis-type-iv
#7
Lauren C Boudewyn, Jakub Sikora, Ladislav Kuchar, Jana Ledvinova, Yulia Grishchuk, Shirley L Wang, Kostantin Dobrenis, Steven U Walkley
Mucolipidosis type IV (MLIV) is a lysosomal storage disease exhibiting progressive intellectual disability, motor impairment, and premature death. There is currently no cure or corrective treatment. The disease results from mutations in the gene encoding mucolipin-1, a transient receptor potential channel believed to play a key role in lysosomal calcium egress. Loss of mucolipin-1 and subsequent defects lead to a host of cellular aberrations, including accumulation of glycosphingolipids (GSLs) in neurons and other cell types, microgliosis and, as reported here, cerebellar Purkinje cell loss...
June 10, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28606376/enhanced-delivery-and-effects-of-acid-sphingomyelinase-by-icam-1-targeted-nanocarriers-in-type-b-niemann-pick-disease-mice
#8
Carmen Garnacho, Rajwinder Dhami, Melani Solomon, Edward H Schuchman, Silvia Muro
Acid sphingomyelinase deficiency in type B Niemann-Pick disease leads to lysosomal sphingomyelin storage, principally affecting lungs, liver, and spleen. Infused recombinant enzyme is beneficial, yet its delivery to the lungs is limited and requires higher dosing than liver and spleen, leading to potentially adverse reactions. Previous studies showed increased enzyme pulmonary uptake by nanocarriers targeted to ICAM-1, a protein overexpressed during inflammation. Here, using polystyrene and poly(lactic-co-glycolic acid) nanocarriers, we optimized lung delivery by varying enzyme dose and nanocarrier concentration, verified endocytosis and lysosomal trafficking in vivo, and evaluated delivered activity and effects...
June 9, 2017: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/28601876/interstitial-lung-disease-associated-with-adult-niemann-pick-disease-type-b
#9
Nader Chebib, Françoise Thivolet-Bejui, Vincent Cottin
No abstract text is available yet for this article.
June 10, 2017: Respiration; International Review of Thoracic Diseases
https://www.readbyqxmd.com/read/28599675/ykl-40-chitinase-3-like-i-is-expressed-in-a-subset-of-astrocytes-in-alzheimer-s-disease-and-other-tauopathies
#10
Marta Querol-Vilaseca, Martí Colom-Cadena, Jordi Pegueroles, Carla San Martín-Paniello, Jordi Clarimon, Olivia Belbin, Juan Fortea, Alberto Lleó
BACKGROUND: The innate immune system is known to be involved early in the pathogenesis of Alzheimer's disease (AD) and other neurodegenerative disorders. The inflammatory response in the central nervous system can be measured postmortem or through a series of inflammatory mediator surrogates. YKL-40 (also named Chitinase-3-like I) has been frequently investigated in body fluids as a surrogate marker of neuroinflammation in AD and other neurological disorders. However, the expression pattern of YKL-40 in the human brain with neurodegenerative pathology remains poorly investigated...
June 9, 2017: Journal of Neuroinflammation
https://www.readbyqxmd.com/read/28592657/induced-pluripotent-stem-cell-models-of-lysosomal-storage-disorders
#11
REVIEW
Daniel K Borger, Benjamin McMahon, Tamanna Roshan Lal, Jenny Serra-Vinardell, Elma Aflaki, Ellen Sidransky
Induced pluripotent stem cells (iPSCs) have provided new opportunities to explore the cell biology and pathophysiology of human diseases, and the lysosomal storage disorder research community has been quick to adopt this technology. Patient-derived iPSC models have been generated for a number of lysosomal storage disorders, including Gaucher disease, Pompe disease, Fabry disease, metachromatic leukodystrophy, the neuronal ceroid lipofuscinoses, Niemann-Pick types A and C1, and several of the mucopolysaccharidoses...
June 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28590904/niemann-pick-type-c-proteins-promote-microautophagy-by-expanding-raft-like-membrane-domains-in-the-yeast-vacuole
#12
Takuma Tsuji, Megumi Fujimoto, Tsuyako Tatematsu, Jinglei Cheng, Minami Orii, Sho Takatori, Toyoshi Fujimoto
Niemann-Pick type C is a storage disease caused by dysfunction of NPC proteins, which transport cholesterol from the lumen of lysosomes to the limiting membrane of that compartment. Using freeze fracture electron microscopy, we show here that the yeast NPC orthologs, Ncr1p and Npc2p, are essential for formation and expansion of raft-like domains in the vacuolar (lysosome) membrane, both in stationary phase and in acute nitrogen starvation. Moreover, the expanded raft-like domains engulf lipid droplets by a microautophagic mechanism...
June 7, 2017: ELife
https://www.readbyqxmd.com/read/28588430/gut-microbial-diversity-in-health-and-disease-experience-of-healthy-indian-subjects-and-colon-carcinoma-and-inflammatory-bowel-disease-patients
#13
V Deepak Bamola, Arnab Ghosh, Raj Kishor Kapardar, Banwari Lal, Simrita Cheema, Priyangshu Sarma, Rama Chaudhry
Background: The intestinal microbiota, through complex interactions with the gut mucosa, play a key role in the pathogenesis of colon carcinoma and inflammatory bowel disease (IBD). The disease condition and dietary habits both influence gut microbial diversity. Objective: The aim of this study was to assess the gut microbial profile of healthy subjects and patients with colon carcinoma and IBD. Healthy subjects included 'Indian vegetarians/lactovegetarians', who eat plant produce, milk and milk products, and 'Indian non-vegetarians', who eat plant produce, milk and milk products, certain meats and fish, and the eggs of certain birds and fish...
2017: Microbial Ecology in Health and Disease
https://www.readbyqxmd.com/read/28587793/miglustat-therapy-in-a-case-of-early-infantile-niemann-pick-type-c
#14
Miho Usui, Akihiko Miyauchi, Yuko Nakano, Sachie Nakamura, Eriko Jimbo, Shinji Itamura, Kaori Adachi, Eiji Nanba, Aya Narita, Takanori Yamagata, Hitoshi Osaka
Niemann-Pick disease type C (NPC) is a rare, progressive autosomal recessive disease. It is caused by mutations in either the NPC1 or NPC2 genes, resulting in defective regulation of intracellular lipid trafficking. Miglustat, which reversibly inhibits glucosylceramide synthase, reportedly has beneficial effects on the progressive neurological symptoms of NPC and was approved in Japan in 2012. Some reports suggested that miglustat therapy delayed the onset or progression of NPC when treatment was initiated before the onset of neurological manifestation or at an early stage...
June 3, 2017: Brain & Development
https://www.readbyqxmd.com/read/28583322/ocular-findings-in-patients-with-cholestatic-disorders-of-infancy-a-single-centre-experience
#15
Hanaa El-Karaksy, Dalia Hamed, Hanan Fouad, Engy Mogahed, Heba Helmy, Fotouh Hasanain
BACKGROUND AND STUDY AIMS: Neonatal cholestasis can be associated with ocular findings that might aid in its diagnosis, e.g., Alagille syndrome (AGS) and Niemann Pick disease (NPD). We aimed to investigate the frequency of ocular manifestations in infants with cholestasis. PATIENTS AND METHODS: This cross-sectional study included cholestatic infants presenting to the Paediatric Hepatology Unit, Cairo University Paediatric Hospital, Cairo, Egypt. All infants underwent examination of lid, ocular motility, anterior and posterior segments and measurement of intraocular pressure, cycloplegic refraction, ocular ultrasonography and vision...
June 2, 2017: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
https://www.readbyqxmd.com/read/28574146/niemann-pick-type-c-as-a-cause-of-progressive-intellectual-and-neurological-deterioration-in-childhood
#16
Anne Marie Winstone, Lesley Ann Stellitano, Christopher Michael Verity
AIM: To describe the cases of Niemann-Pick type C (NP-C) disease in a United Kingdom epidemiological study of progressive intellectual and neurological deterioration in childhood. METHOD: Paediatricians notified cases via the British Paediatric Surveillance Unit between 1997 and 2015. RESULTS: Fifty-three NP-C patients were identified: 29 females, 24 males. Fifteen cases had a systemic presentation (neonatal jaundice and/or hepatosplenomegaly)...
June 2, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28566018/autoimmune-abnormality-affects-ovulation-and-oocyte-pick-up-in-mrl-mpj-fas-lpr-lpr-mice
#17
M Hosotani, O Ichii, T Nakamura, S Otsuka-Kanazawa, Y Hosny Ali Elewa, Y Kon
Ovulation and oocyte-pick-up are essential processes in fertilization. Herein, we found associations between autoimmune disease and the aforementioned processes in mice. At three and six months, along with the evaluation of autoimmune disease indices, the ovary, mesosalpinx, and oviducts were histologically examined in C57BL/6, MRL/MpJ, and MRL/MpJ-Fas (lpr/lpr) mice as healthy control, mild and severe models of autoimmune disease, respectively. In superovulated mice, the number of "oocyte cumulus complexes" found in the ampulla was macroscopically counted, and that of "ovulated oocytes" was histologically evaluated, as indicated by ruptured follicles or corpora hemorrhagica in ovaries...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28560794/a-novel-marketing-mix-and-choice-architecture-framework-to-nudge-restaurant-customers-toward-healthy-food-environments-to-reduce-obesity-in-the-united-states
#18
REVIEW
V I Kraak, T Englund, S Misyak, E L Serrano
This review identified and adapted choice architecture frameworks to develop a novel framework that restaurant owners could use to promote healthy food environments for customers who currently overconsume products high in fat, sugar and sodium that increase their risk of obesity and diet-related non-communicable diseases. This review was conducted in three steps and presented as a narrative summary to demonstrate a proof of concept. Step 1 was a systematic review of nudge or choice architecture frameworks used to categorize strategies that cue healthy behaviours in microenvironments...
May 31, 2017: Obesity Reviews: An Official Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/28553180/can-18-f-fluoroestradiol-positron-emission-tomography-become-a-new-imaging-standard-in-the-estrogen-receptor-positive-breast-cancer-patient-a-prospective-comparative-study-with-18-f-fluorodeoxyglucose-positron-emission-tomography
#19
Manoj Gupta, Anupama Datta, Partha S Choudhury, Maria Dsouza, Ullas Batra, Anil Mishra
Correct staging is the most crucial for the treatment outcome in cancer management. Molecular imaging with (18)F-fluoroestradiol (FES) positron emission tomography-computed tomography (PET-CT) targets estrogen receptor (ER) and may have a higher incremental value in diagnosis by aiding specificity. We enrolled 12 female breast cancer patients prospectively and did (18)F-FES PET-CT and (18)F-fluorodeoxyglucose (FDG) PET-CT within 1 week interval time. Lesion detection sensitivity was compared for a total number of lesions and for nonhepatic lesions only by McNemar test...
April 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28553027/a-ten-year-audit-of-maternal-mortality-millennium-development-still-a-distant-goal
#20
Anshuja Singla, Shalini Rajaram, Sumita Mehta, Gita Radhakrishnan
OBJECTIVE: To assess various causes of maternal mortality over a ten year period. DESIGN: Retrospective audit of hospital case records. SETTING: Tertiary care hospital. POPULATION: Pregnant women who expired in the premises of GTB Hospital. MATERIALS AND METHODS: A retrospective audit of case records of maternal deaths was conducted for a ten year period (January 2005 to December 2014). RESULTS: There were a total of 647 maternal deaths out of 1,16,641 live births...
April 2017: Indian Journal of Community Medicine
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