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https://www.readbyqxmd.com/read/29656334/four-gaucher-disease-type-ii-patients-with-three-novel-mutations-a-single-centre-experience-from-turkey
#1
Fatma Derya Bulut, Deniz Kör, Berna Şeker-Yılmaz, Özlem Hergüner, Serdar Ceylaner, Ferda Özkınay, Sebile Kılavuz, Neslihan Önenli-Mungan
Gaucher disease is the most common lysosomal storage disorder due to glucosylceramidase enzyme deficiency. There are three subtypes of the disease. Neurological involvement accompanies visceral and haematological findings only in type II and type III Gaucher patients. Type II is the acute progressive neuronopathic form which is the most severe and rare subtype. Clinical findings are recognized prenatally or in the first months of life and followed by death within the first two years of age. Among our 81 Gaucher patients, we identified 4 (4,9%) type II patients in our metabolic centre...
April 14, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29655915/real-time-monitoring-of-ph-dependent-intracellular-trafficking-of-ovarian-cancer-g-protein-coupled-receptor-1-in-living-leukocytes
#2
Modong Tan, Satoshi Yamaguchi, Motonao Nakamura, Teruyuki Nagamune
G-protein coupled receptors (GPCRs) are involved in many diseases and important biological phenomena; elucidating the mechanisms underlying regulation of their signal transduction potentially provides both novel targets for drug discovery and insight into living systems. A proton-sensing GPCR, ovarian cancer G protein-coupled receptor 1 (OGR1), has been reported to be related to acidosis and diseases that cause tissue acidification, but the mechanism of proton-induced activation of OGR1-mediated signal transduction in acidic conditions remains unclear...
April 11, 2018: Journal of Bioscience and Bioengineering
https://www.readbyqxmd.com/read/29655841/lysosomal-acid-lipase-deficiency-allograft-recurrence-and-liver-failure-clinical-outcomes-of-18-liver-transplantation-patients
#3
REVIEW
Donna Lee Bernstein, Steven Lobritto, Alina Iuga, Helen Remotti, Thomas Schiano, Maria Isabel Fiel, Manisha Balwani
Lysosomal acid lipase deficiency (LAL-D) results in progressive microvesicular hepatosteatosis, fibrosis, cirrhosis, dyslipidemia, and vascular disease. Interventions available prior to enzyme replacement therapy development, including lipid lowering medications, splenectomy, hematopoietic stem cell and liver transplantation were unsuccessful at preventing multi-systemic disease progression, and were associated with significant morbidity and mortality. We report two sisters, diagnosed in infancy, who succumbed to LAL-D with accelerated disease progression following splenectomy and liver transplantation...
March 27, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29655799/stage-specific-expression-of-the-proline-alanine-transporter-in-the-human-pathogen-leishmania
#4
T Liburkin-Dan, D Schlisselberg, R Fischer-Weinberger, P Pescher, E Inbar, M Ephros, D Rentsch, G F Späth, D Zilberstein
Leishmania are obligatory intracellular parasites that cycle between the sand fly midgut (extracellular promastigotes) and mammalian macrophage phagolysosomes (intracellular amastigotes). They have developed mechanisms of adaptation to the distinct environments of host and vector that favor utilization of both proline and alanine. LdAAP24 is the L. donovani proline-alanine transporter. It is a member of Leishmania system A that translocates neutral amino acids. Since system A is promastigote-specific, we aimed to assess whether LdAAP24 is also expressed exclusively in promastigotes...
April 12, 2018: Molecular and Biochemical Parasitology
https://www.readbyqxmd.com/read/29655686/physakengose-g-induces-apoptosis-via-egfr-mtor-signaling-and-inhibits-autophagic-flux-in-human-osteosarcoma-cells
#5
Hua Lin, Chao Zhang, Hao Zhang, Yuan-Zheng Xia, Chuan-Yang Zhang, Jie Luo, Lei Yang, Ling-Yi Kong
BACKGROUND: Physakengose G (PG) is a new compound first isolated from Physalis alkekengi var. franchetii, an anticarcinogenic traditional Chinese medicine. PG has shown promising anti-tumor effects, but its underlying mechanisms remain unknown. PURPOSE: To investigate the anti-cancer effects of PG on human osteosarcoma cells and the underlying mechanisms. METHODS: Cell viability was measured by MTT assay. Apoptosis rates, mitochondrial membrane potential (MMP), reactive oxygen species (ROS) generation, and acidic vesicular organelles (AVOs) formation were determined by flow cytometry...
March 15, 2018: Phytomedicine: International Journal of Phytotherapy and Phytopharmacology
https://www.readbyqxmd.com/read/29655638/attenuation-of-the-niemann-pick-type-c2-disease-phenotype-by-intracisternal-administration-of-an-aavrh-10-vector-expressing-npc2
#6
Sandra Markmann, Jasmine Reid, Jonathan B Rosenberg, Bishnu P De, Stephen M Kaminsky, Ronald G Crystal, Dolan Sondhi
Niemann-Pick type C2 (NPC2) disease is a rare, neurodegenerative disorder caused by mutations in the NPC2 gene, leading to lysosomal accumulation of unesterified cholesterol and other lipids. It is characterized by hepatosplenomegaly, liver dysfunction and severe neurological manifestations, resulting in early death. There is no effective therapy for NPC2 disease. Here, we evaluated the effectiveness of an adeno-associated virus (AAV), serotype rh.10 gene transfer vector expressing the mouse Npc2 gene (AAVrh...
April 12, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29653253/cholesterol-and-bile-acid-mediated-regulation-of-autophagy-in-fatty-liver-diseases-and-atherosclerosis
#7
REVIEW
Yifeng Wang, Wen-Xing Ding, Tiangang Li
Liver is the major organ that regulates whole body cholesterol metabolism. Disrupted hepatic cholesterol homeostasis contributes to the pathogenesis of nonalcoholic steatohepatitis, dyslipidemia, atherosclerosis, and cardiovascular diseases. Hepatic bile acid synthesis is the major catabolic mechanism for cholesterol elimination from the body. Furthermore, bile acids are signaling molecules that regulate liver metabolism and inflammation. Autophagy is a highly-conserved lysosomal degradation mechanism, which plays an essential role in maintaining cellular integrity and energy homeostasis...
April 10, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29651536/septin-localization-and-function-during-autophagy
#8
REVIEW
Gaurav Barve, Priyadarshini Sanyal, Ravi Manjithaya
Autophagy is a vital conserved recycling process where eukaryotic cells remove unwanted proteins and organelles via lysosomal degradation and in turn, generate nutrients for the cells. The special feature of autophagy process is the formation of double-membrane vesicles called autophagosomes that engulf cellular cargo and deliver them to the vacuole or lysosomes for degradation. Inspite of more than 40 AuTophaGy (ATG) proteins and several organelles as known membrane source, autophagosome biogenesis is not entirely understood...
April 12, 2018: Current Genetics
https://www.readbyqxmd.com/read/29651246/lactone-component-from-ligusticum-chuanxiong-alleviates-myocardial-ischemia-injury-through-inhibiting-autophagy
#9
Gang Wang, Guoliang Dai, Jie Song, Maomao Zhu, Ying Liu, Xuefeng Hou, Zhongcheng Ke, Yuanli Zhou, Huihui Qiu, Fujing Wang, Nan Jiang, Xiaobin Jia, Liang Feng
The dysregulation of autophagy is associated with a series of cardiovascular diseases, such as myocardial ischemia injury. Lactone component from Ligusticum chuanxiong (LLC) is the major constituent of the traditional Chinese herb L. chuanxiong Hort., which has been reported to hold potential cardioprotective effects. In this study, to determine whether LLC protects the heart through regulation of autophagy, we explored the effects of LLC on cardioprotection and autophagy in myocardial ischemia injured rats and H9c2 cardiomyocytes...
2018: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/29650965/a-novel-autophagy-enhancer-as-a-therapeutic-agent-against-metabolic-syndrome-and-diabetes
#10
Hyejin Lim, Yu-Mi Lim, Kook Hwan Kim, Young Eui Jeon, Kihyoun Park, Jinyoung Kim, Hui-Yun Hwang, Dong Jin Lee, Haushabhau Pagire, Ho Jeong Kwon, Jin Hee Ahn, Myung-Shik Lee
Autophagy is a critical regulator of cellular homeostasis, dysregulation of which is associated with diverse diseases. Here we show therapeutic effects of a novel autophagy enhancer identified by high-throughput screening of a chemical library against metabolic syndrome. An autophagy enhancer increases LC3-I to LC3-II conversion without mTOR inhibition. MSL, an autophagy enhancer, activates calcineurin, and induces dephosphorylation/nuclear translocation of transcription factor EB (TFEB), a master regulator of lysosomal biogenesis and autophagy gene expression...
April 12, 2018: Nature Communications
https://www.readbyqxmd.com/read/29650959/in-vivo-guiding-nitrogen-doped-carbon-nanozyme-for-tumor-catalytic-therapy
#11
Kelong Fan, Juqun Xi, Lei Fan, Peixia Wang, Chunhua Zhu, Yan Tang, Xiangdong Xu, Minmin Liang, Bing Jiang, Xiyun Yan, Lizeng Gao
Nanomaterials with intrinsic enzyme-like activities (nanozymes), have been widely used as artificial enzymes in biomedicine. However, how to control their in vivo performance in a target cell is still challenging. Here we report a strategy to coordinate nanozymes to target tumor cells and selectively perform their activity to destruct tumors. We develop a nanozyme using nitrogen-doped porous carbon nanospheres which possess four enzyme-like activities (oxidase, peroxidase, catalase and superoxide dismutase) responsible for reactive oxygen species regulation...
April 12, 2018: Nature Communications
https://www.readbyqxmd.com/read/29649577/bioinformatics-characterization-of-a-cathepsin-b-transcript-from-the-giant-river-prawn-macrobrachium-rosenbergii-homology-modeling-and-expression-analysis-after-aeromonas-hydrophila-infection
#12
Saowalak Onming, Wilawan Thongda, Chao Li, Orathai Sawatdichaikul, Nichanun McMillan, Sirawut Klinbunga, Eric Peatman, Supawadee Poompuang
Cathepsin B is a lysosomal proteolytic enzyme that has been suggested to play a role in pathological processes of immune system. In this study, the full-length cDNA sequence of cathepsin B transcript in the giant river prawn Macrobrachium rosenbergii (MrCTSB) was obtained from 454 pyrosequencing of cDNAs from hepatopancreas and muscle. It was 1158 bp in length, containing an open reading frame (ORF) of 987 bp corresponding to 328 amino acids. The predicted molecular mass and pI of MrCTSB protein was 36...
April 9, 2018: Comparative Biochemistry and Physiology. Part B, Biochemistry & Molecular Biology
https://www.readbyqxmd.com/read/29648648/fgf-signaling-deregulation-is-associated-with-early-developmental-skeletal-defects-in-animal-models-for-mucopolysaccharidosis-type-ii-mpsii
#13
Stefania Bellesso, Marika Salvalaio, Susanna Lualdi, Elisa Tognon, Roberto Costa, Paola Braghetta, Chiara Giraudo, Roberto Stramare, Laura Rigon, Mirella Filocamo, Rosella Tomanin, Enrico Moro
Skeletal abnormalities represent a major clinical burden in patients affected by the lysosomal storage disorder mucopolysaccharidosis type II (MPSII, OMIM #309900). While extensive research has emphasized the detrimental role of stored glycosaminoglycans (GAGs) in the bone marrow (BM), a limited understanding of primary cellular mechanisms underlying bone defects in MPSII has hampered the development of bone-targeted therapeutic strategies beyond enzyme replacement therapy (ERT). We here investigated the involvement of key signaling pathways related to the loss of iduronate-2-sulfatase activity in two different MPSII animal models, D...
April 10, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29648443/shedding-light-on-the-molecular-pathology-of-amyloid-plaques-in-transgenic-alzheimer-s-disease-mice-using-multimodal-maldi-imaging-mass-spectrometry
#14
Ibrahim Kaya, Henrik Zetterberg, Kaj Blennow, Jörg Hanrieder
Senile plaques formed by aggregated amyloid β peptides are one of the major pathological hallmarks of Alzheimer's disease (AD) which have been suggested to be the primary influence triggering the AD pathogenesis and the rest of the disease process. However, neurotoxic Aβ aggregation and progression are associated with a wide range of enigmatic biochemical, biophysical and genetic processes. MALDI imaging mass spectrometry (IMS) is a label-free method to elucidate the spatial distribution patterns of intact molecules in biological tissue sections...
April 12, 2018: ACS Chemical Neuroscience
https://www.readbyqxmd.com/read/29645350/degradation-of-altered-mitochondria-by-autophagy-is-impaired-in-lafora-disease
#15
Marcos Lahuerta, Carmen Aguado, Pablo Sánchez-Martín, Pascual Sanz, Erwin Knecht
Lafora disease (LD) is a fatal neurodegenerative disorder caused mostly by mutations in either of two genes encoding laforin and malin. LD is characterized by accumulation of a poorly-branched form of glycogen in the cytoplasm of neurons and other cells. We previously reported dysfunctional mitochondria in different LD models. Now, using mitochondrial uncouplers and respiratory chain inhibitors, we have investigated with human fibroblasts a possible alteration in the selective degradation of damaged mitochondria (mitophagy) in LD...
April 12, 2018: FEBS Journal
https://www.readbyqxmd.com/read/29645336/raman-micro-spectroscopic-evidence-for-the-metabolism-of-a-tyrosine-kinase-inhibitor-neratinib-in-cancer-cells
#16
Karim Aljakouch, Tatjana Lechtonen, Hesham K Yosef, Mohamad K Hammoud, Wissam Alsaidi, Carsten Kötting, Carolin Mügge, Robert Kourist, Samir El-Mashtoly, Klaus Gerwert
Tyrosine kinase receptors are one of the main targets in cancer therapy. They play an essential role in the modulation of growth factor signalling and thereby inducing cell proliferation and growth. Tyrosine kinase inhibitors such as neratinib bind to EGFR and HER2 receptors and exhibit anti-tumour activity. However, little is known about their detailed cellular uptake and metabolism. Here, we report for the first time the intracellular spatial distribution and metabolism of neratinib in different cancer cells using label-free Raman imaging...
April 12, 2018: Angewandte Chemie
https://www.readbyqxmd.com/read/29644770/tmem55b-contributes-to-lysosomal-homeostasis-and-amino-acid-induced-mtorc1-activation
#17
Yutaka Hashimoto, Michiko Shirane, Keiichi I Nakayama
Mammalian/mechanistic target of rapamycin complex 1 (mTORC1) responds to growth factors and nutrient availability. Amino acids induce the recruitment of mTORC1 to the lysosomal membrane and its consequent activation, but the molecular mechanism of such activation has remained unclear. We have now examined the role of TMEM55B, a lysosomal protein of unknown molecular function, in this process on the basis of the results of proteomics and immunofluorescence analyses showing that TMEM55B interacts with many proteins that participate in mTORC1 activation including components of the vacuolar-type proton ATPase (V-ATPase) and Ragulator complexes at the lysosomal membrane...
April 11, 2018: Genes to Cells: Devoted to Molecular & Cellular Mechanisms
https://www.readbyqxmd.com/read/29644751/disease-modification-in-parkinson-s-disease-current-approaches-challenges-and-future-considerations
#18
REVIEW
Anthony E Lang, Alberto J Espay
The greatest unmet therapeutic need in Parkinson's disease is the development of treatment that slows the relentless progression of the neurodegenerative process. The concept of "disease modification" encompasses intervention types ranging from those designed to slow the underlying degeneration to treatments directed at regenerating or replacing lost neurons. To date all attempts to develop effective disease-modifying therapy have failed. Many reasons have been proposed for these failures including our rudimentary understanding of disease pathogenesis and the assumption that each targeted mechanisms of disease apply to most patients with the same clinical diagnosis...
April 11, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29643474/histone-deacetylase-6-controls-notch3-trafficking-and-degradation-in-t-cell-acute-lymphoblastic-leukemia-cells
#19
Marica Pinazza, Margherita Ghisi, Sonia Minuzzo, Valentina Agnusdei, Gianluca Fossati, Vincenzo Ciminale, Laura Pezzè, Yari Ciribilli, Giorgia Pilotto, Carolina Venturoli, Alberto Amadori, Stefano Indraccolo
Several studies have revealed that endosomal sorting controls the steady-state levels of Notch at the cell surface in normal cells and prevents its inappropriate activation in the absence of ligands. However, whether this highly dynamic physiologic process can be exploited to counteract dysregulated Notch signaling in cancer cells remains unknown. T-ALL is a malignancy characterized by aberrant Notch signaling, sustained by activating mutations in Notch1 as well as overexpression of Notch3, a Notch paralog physiologically subjected to lysosome-dependent degradation in human cancer cells...
April 12, 2018: Oncogene
https://www.readbyqxmd.com/read/29643335/quantitative-characterization-of-all-single-amino-acid-variants-of-a-viral-capsid-based-drug-delivery-vehicle
#20
Emily C Hartman, Christopher M Jakobson, Andrew H Favor, Marco J Lobba, Ester Álvarez-Benedicto, Matthew B Francis, Danielle Tullman-Ercek
Self-assembling proteins are critical to biological systems and industrial technologies, but predicting how mutations affect self-assembly remains a significant challenge. Here, we report a technique, termed SyMAPS (Systematic Mutation and Assembled Particle Selection), that can be used to characterize the assembly competency of all single amino acid variants of a self-assembling viral structural protein. SyMAPS studies on the MS2 bacteriophage coat protein revealed a high-resolution fitness landscape that challenges some conventional assumptions of protein engineering...
April 11, 2018: Nature Communications
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