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1

Tan, Jun-Kai, Guo Liu, Long-Xiang Huang, et al. "Evaluation of trabecular meshwork-specific promoters in vitro and in vivo using scAAV2 vectors expressing C3 transferase." International Journal of Ophthalmology 16, no. 8 (2023): 1196–209. http://dx.doi.org/10.18240/ijo.2023.08.03.

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AIM: To evaluate the potential of two trabecular meshwork (TM)-specific promoters, Chitinase 3-like 1 (Ch3L1) and matrix gla protein (MGP), for improving specificity and safety in glaucoma gene therapy based on self-complementary AAV2 (scAAV2) vector technologies. METHODS: An scAAV2 vector with C3 transferase (C3) as the reporter gene (scAAV2-C3) was selected. The scAAV2-C3 vectors were driven by Ch3L1 (scAAV2-Ch3L1-C3), MGP (scAAV2-MGP-C3), enhanced MGP (scAAV2-eMGP-C3) and cytomegalovirus (scAAV2-CMV-C3), respectively. The cultured primary human TM cells were treated with each vector at diff
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2

Nishimura, Yorihiro, Kei Sato, Yoshio Koyanagi, et al. "Enterovirus A71 does not meet the uncoating receptor SCARB2 at the cell surface." PLOS Pathogens 20, no. 2 (2024): e1012022. http://dx.doi.org/10.1371/journal.ppat.1012022.

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Enterovirus A71 (EV-A71) infection involves a variety of receptors. Among them, two transmembrane protein receptors have been investigated in detail and shown to be critical for infection: P-selectin glycoprotein ligand-1 (PSGL-1) in lymphocytes (Jurkat cells), and scavenger receptor class B member 2 (SCARB2) in rhabdomyosarcoma (RD) cells. PSGL-1 and SCARB2 have been reported to be expressed on the surface of Jurkat and RD cells, respectively. In the work reported here, we investigated the roles of PSGL-1 and SCARB2 in the process of EV-A71 entry. We first examined the expression of SCARB2 in
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Liu, Lixia, Zhenheng Guo, Quyen Tieu, Anna Castle, and David Castle. "Role of Secretory Carrier Membrane Protein SCAMP2 in Granule Exocytosis." Molecular Biology of the Cell 13, no. 12 (2002): 4266–78. http://dx.doi.org/10.1091/mbc.e02-03-0136.

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In secretory carrier membrane proteins (SCAMPs), the most conserved structural segment is between transmembrane spans 2 and 3, facing the cytosol. A synthetic peptide, CWYRPIYKAFR (E peptide), from this segment of SCAMP2 potently inhibits exocytosis in permeabilized neuroendocrine (PC12) cells. E peptide blocked discharge of35S-labeled secretogranin with the same structural selectivity and potency as observed for hexosaminidase secretion in mast cells. SCAMPs 1 and 2 are concentrated primarily on intracellular membranes in PC12 cells. Both, however, are found on plasma membranes, but neither i
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Liu, Lixia, Haini Liao, Anna Castle, et al. "SCAMP2 Interacts with Arf6 and Phospholipase D1 and Links Their Function to Exocytotic Fusion Pore Formation in PC12 Cells." Molecular Biology of the Cell 16, no. 10 (2005): 4463–72. http://dx.doi.org/10.1091/mbc.e05-03-0231.

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SNAP receptor (SNARE)-mediated fusion is regarded as a core event in exocytosis. Exocytosis is supported by other proteins that set up SNARE interactions between secretory vesicle and plasma membranes or facilitate fusion pore formation. Secretory carrier membrane proteins (SCAMPs) are candidate proteins for functioning in these events. In neuroendocrine PC12 cells, SCAMP2 colocalizes on the cell surface with three other proteins required for dense-core vesicle exocytosis: phospholipase D1 (PLD1), the small GTPase Arf6, and Arf6 guanine nucleotide exchange protein ARNO. Arf6 and PLD1 coimmunop
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5

Sheta, Mona, Kunihiro Yoshida, Hideka Kanemoto, Stuart K. Calderwood, and Takanori Eguchi. "Stress-Inducible SCAND Factors Suppress the Stress Response and Are Biomarkers for Enhanced Prognosis in Cancers." International Journal of Molecular Sciences 24, no. 6 (2023): 5168. http://dx.doi.org/10.3390/ijms24065168.

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The cell stress response is an essential system present in every cell for responding and adapting to environmental stimulations. A major program for stress response is the heat shock factor (HSF)–heat shock protein (HSP) system that maintains proteostasis in cells and promotes cancer progression. However, less is known about how the cell stress response is regulated by alternative transcription factors. Here, we show that the SCAN domain (SCAND)-containing transcription factors (SCAN-TFs) are involved in repressing the stress response in cancer. SCAND1 and SCAND2 are SCAND-only proteins that c
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6

Zonta, Marise Bueno, Hélio A. G. Teive, Carlos Henrique F. Camargo, et al. "Comparing loss of balance and functional capacity among patients with SCA2, SCA3 and SCA10." Clinical Neurology and Neurosurgery 214 (March 2022): 107150. http://dx.doi.org/10.1016/j.clineuro.2022.107150.

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7

Quraishi, Imran H., Anna M. Szekely, Anushree C. Shirali, Pramod K. Mistry, and Lawrence J. Hirsch. "Miglustat Therapy for SCARB2-Associated Action Myoclonus–Renal Failure Syndrome." Neurology Genetics 7, no. 5 (2021): e614. http://dx.doi.org/10.1212/nxg.0000000000000614.

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ObjectiveWe evaluated whether substrate reduction therapy with miglustat could alter the course of action myoclonus–renal failure syndrome (AMRF), a rare, progressive myoclonic epilepsy with early mortality caused by scavenger receptor class B member 2 (SCARB2) gene mutations.MethodsWe identified an AMRF patient with a biallelic combination of SCARB2 mutations determined by whole exome sequencing. SCARB2 encodes a protein that traffics β-glucocerebrosidase to the lysosomal membrane. Mutations lead to a complex pattern of glucosylceramide accumulation and neurologic symptoms including progressi
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8

Ishihara, Akikazu, Jeffrey S. Bartlett, and Alicia L. Bertone. "Inflammation and Immune Response of Intra-Articular Serotype 2 Adeno-Associated Virus or Adenovirus Vectors in a Large Animal Model." Arthritis 2012 (January 11, 2012): 1–8. http://dx.doi.org/10.1155/2012/735472.

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Intra-articular gene therapy has potential for the treatment of osteoarthritis and rheumatoid arthritis. To quantify in vitro relative gene transduction, equine chondrocytes and synovial cells were treated with adenovirus vectors (Ad), serotype 2 adeno-associated virus vectors (rAAV2), or self-complementary (sc) AAV2 vectors carrying green fluorescent protein (GFP). Using 6 horses, bilateral metacarpophalangeal joints were injected with Ad, rAAV2, or scAAV2 vectors carrying GFP genes to assess the in vivo joint inflammation and neutralizing antibody (NAb) titer in serum and joint fluid. In vit
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9

Kitamoto, Takuya, and Aya Kitamoto. "Integrative proteomic and lipidomic analysis of GNB1 and SCARB2 knockdown in human subcutaneous adipocytes." PLOS ONE 20, no. 3 (2025): e0319163. https://doi.org/10.1371/journal.pone.0319163.

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Obesity, a global public health concern, is influenced by various factors, including genetic predispositions. Although many obesity-associated genes have been identified through genome-wide association studies (GWAS), the molecular mechanisms linking these genes to adipose tissue function remain largely unexplored. This study integrates proteomic data on adipocyte fat accumulation with GWAS data on obesity to unravel the roles of the identified key candidate genes — G protein subunit beta 1 (GNB1) and scavenger receptor class B member 2 (SCARB2) — involved in fat accumulation. We utilized RNA
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10

Wu, T. T., and J. D. Castle. "Evidence for colocalization and interaction between 37 and 39 kDa isoforms of secretory carrier membrane proteins (SCAMPs)." Journal of Cell Science 110, no. 13 (1997): 1533–41. http://dx.doi.org/10.1242/jcs.110.13.1533.

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Secretory carrier membrane proteins (SCAMPs) are proteins of post-Golgi recycling carriers, including regulated secretory organelles. The two major size variants, SCAMP1 (37 kDa) and SCAMP2 (39 kDa), extensively colocalize in membranes of fibroblasts and parotid acinar cells based on immunocytochemistry and velocity centrifugation, although the relative amounts of each variant may differ in selected organelles. SCAMP1, and to a lesser extent, SCAMP2, are substrates for chemical crosslinking in situ, and the recognizable crosslinking products of SCAMP1 suggest potential formation of homomultime
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11

Yu, Yanqiu, Joyce Hoi-Yuk Ng, Anise M. S. Wu, et al. "Psychometric Properties of the Abbreviated Version of the Dual School Climate and School Identification Measure–Student (SCASIM-St15) among Adolescents in China." International Journal of Environmental Research and Public Health 19, no. 24 (2022): 16535. http://dx.doi.org/10.3390/ijerph192416535.

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School climate and school identification are two distinct yet closely interrelated components of school environment; both are associated with adolescents’ multiple health behavioral changes. The 15-item Abbreviated version of the Dual School Climate and School Identification Measure–Student (SCASIM-St15) and its 5-factor model simultaneously and separately assess these two constructs. This study validated the Chinese version of SCASIM-St15 among 1108 students from junior middle schools, senior middle schools, and vocational high schools in Taizhou city, Zhejiang, China, via an anonymous, self-
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12

Usenko, Tatiana S., Anastasia I. Bezrukova, Darya A. Bogdanova, et al. "Gene Expression of Lysosomal Membrane Proteins in Parkinson Disease, Associated with Mutations in the Glucocerebrosidase Gene (GBA)." Annals of Clinical and Experimental Neurology 14, no. 2 (2020): 43–49. https://doi.org/10.25692/acen.2020.2.6.

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Introduction. In carriers of a mutation in the lysosomal enzyme glucocerebrosidase (GBA) gene, the risk of Parkinson disease (PD) is increased by 78 times. However, not all carriers of the GBA gene mutations develop PD during their lifetime. We hypothesize that the dysfunction in the lysosomal membrane proteins involved in autophagy and transport of GBA into the lysosomes can contribute to the development of PD in carriers of mutations in the GBA gene. The aim of the study was to assess the contribution of LAMP2 and SCARB2 genes expression in CD45+ peripheral blood cells to the development of
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13

Kim, Hee Jong, Seho Cha, Jun-Sub Choi, et al. "scAAV2-Mediated Expression of Thioredoxin 2 and C3 Transferase Prevents Retinal Ganglion Cell Death and Lowers Intraocular Pressure in a Mouse Model of Glaucoma." International Journal of Molecular Sciences 24, no. 22 (2023): 16253. http://dx.doi.org/10.3390/ijms242216253.

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Elevated intraocular pressure (IOP) in glaucoma causes retinal ganglion cell (RGC) loss and damage to the optic nerve. Although IOP is controlled pharmacologically, no treatment is available to restore retinal and optic nerve function. In this paper, we aimed to develop a novel gene therapy for glaucoma using an AAV2-based thioredoxin 2 (Trx2)-exoenzyme C3 transferase (C3) fusion protein expression vector (scAAV2-Trx2-C3). We evaluated the therapeutic effects of this vector in vitro and in vivo using dexamethasone (DEX)-induced glaucoma models. We found that scAAV2-Trx2-C3-treated HeLa cells h
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14

Zou, Yujie, Jingwen Pei, Yushu Wang, et al. "The Deficiency of SCARB2/LIMP-2 Impairs Metabolism via Disrupted mTORC1-Dependent Mitochondrial Oxphos." International Journal of Molecular Sciences 23, no. 15 (2022): 8634. http://dx.doi.org/10.3390/ijms23158634.

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Deficiency in scavenger receptor class B, member 2 (SCARB2) is related to both Gaucher disease (GD) and Parkinson’s disease (PD), which are both neurodegenerative-related diseases without cure. Although both diseases lead to weight loss, which affects the quality of life and the progress of diseases, the underlying molecular mechanism is still unclear. In this study, we found that Scarb2−/− mice showed significantly reduced lipid storage in white fat tissues (WAT) compared to WT mice on a regular chow diet. However, the phenotype is independent of heat production, activity, food intake or ener
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15

Sørensen, Henrik, Niels H. Secher, Christoph Siebenmann, et al. "Cutaneous Vasoconstriction Affects Near-infrared Spectroscopy Determined Cerebral Oxygen Saturation during Administration of Norepinephrine." Anesthesiology 117, no. 2 (2012): 263–70. http://dx.doi.org/10.1097/aln.0b013e3182605afe.

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Background Perioperative optimization of spatially resolved near-infrared spectroscopy determined cerebral frontal lobe oxygenation (scO2) may reduce postoperative morbidity. Norepinephrine is routinely administered to maintain cerebral perfusion pressure and, thereby, cerebral blood flow, but norepinephrine reduces the scO2. We hypothesized that norepinephrine-induced reduction in scO2 is influenced by cutaneous vasoconstriction. Methods Fifteen healthy male subjects (25 ± 5 yr, mean ± SD) were studied during: hyperventilation (1.5 kPa end-tidal PcO2 reduction), whole-body heating, administra
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16

Hwang, Won-Sik, Yeongjun Yeo, Inha Oh, et al. "Corrigendum to: CGE analysis of R&D investment policy considering trade-offs between economic growth and stability." Science and Public Policy 48, no. 3 (2021): 445. http://dx.doi.org/10.1093/scipol/scab012.

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17

Acebo, Enrique, José-Ángel Miguel-Dávila, and Mariano Nieto. "The Impact of University–Industry Relationships on Firms’ Performance: A Meta-Regression Analysis." Science and Public Policy 48, no. 2 (2021): 276–93. http://dx.doi.org/10.1093/scipol/scab025.

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Abstract The University–Industry (U–I) relationship is a fundamental part of innovation systems. A wide spread of public resources has been given to promote this relationship and a large number of studies has evaluated the results. However, while innovation theory identifies this relationship as a positive instrument to increase firms’ performance, evaluation literature reports a wide range of findings. The lack of conclusiveness results in theory and evaluation literature motivates this meta-regression analysis (MRA), built on fifty-one micro-level studies published since 1995. After controll
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18

Bugge, Markus M., and Fazilat Siddiq. "Empowering professionalism in mission-oriented innovation." Science and Public Policy 48, no. 3 (2021): 423–37. http://dx.doi.org/10.1093/scipol/scab020.

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Abstract In the literature on mission-oriented innovation supply side and tech-oriented approaches have been complemented by broader and more inclusive societal approaches. Here, it is highlighted that both directionality and broad anchoring of diverse stakeholders across private, public, and civic domains are key to successful implementation. Still, it is unclear how these dimensions relate and unfold in practice. Using digital literacy in education as an example of mission-oriented innovation, this paper investigates what prerequisites and capabilities are needed to envision and govern such
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Drummond Otten, Caitlin, and Baruch Fischhoff. "Assessing broader impacts of funded research: the US National Science Foundation v. Lamar Smith." Science and Public Policy 49, no. 2 (2021): 313–23. http://dx.doi.org/10.1093/scipol/scab082.

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Abstract The US National Science Foundation (NSF) must demonstrate the value of the research that it funds. To that end, NSF has developed two criteria for its funding decisions: intellectual merit (IM), the potential to advance knowledge, and broader impacts (BI), the potential to benefit society. Critics have argued that these criteria are insufficient, including former Rep. Lamar Smith (R-TX), who offered his own criteria delineating specific desired impacts, such as economic competitiveness. We empirically assess this criticism by comparing public ratings of NSF-funded projects, based on t
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Fabiano, Gianluca, Andrea Marcellusi, and Giampiero Favato. "Channels and processes of knowledge transfer: How does knowledge move between university and industry?" Science and Public Policy 47, no. 2 (2020): 256–70. http://dx.doi.org/10.1093/scipol/scaa002.

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Abstract The role of knowledge and technology transfer between academia and the industry has received increasing attention in the analysis of innovation. This article aims to explore the scientific literature concerning knowledge transport mechanisms and describe how the topic was organized by previous studies and terminologies applied. A systematic review was conducted in which the content of recent contributions best fitting these intensions was analysed. The characteristics of knowledge, individuals, organizations, and disciplines were found to be the main determinants in the adoption of tr
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Teixeira, André Luiz da Silva, Márcia Siqueira Rapini, and Thiago Caliari. "Organizational determinants and idiosyncrasies of firms’ absorptive capacity in a developing country." Science and Public Policy 47, no. 3 (2020): 384–95. http://dx.doi.org/10.1093/scipol/scaa020.

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Abstract This article analyses the idiosyncrasies and organizational determinants of the absorptive capacity (AC) of firms located in a developing country. Theoretically, this article characterizes a ‘vicious circle of limited AC’ in Latin American firms. Empirically, the Brazilian Innovation Survey (2011 and 2014) is employed to analyze the role of organizational innovation and different innovative efforts to build two types of AC: (1) academic AC (to absorb knowledge from universities or research institutes); (2) market AC (to absorb knowledge from suppliers, clients, or competitors). The ma
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Enger, Simen G., and Magnus Gulbrandsen. "Orchestrating collaborative projects: Inside ICT networks in Horizon 2020." Science and Public Policy 47, no. 3 (2020): 396–409. http://dx.doi.org/10.1093/scipol/scaa021.

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Abstract This article investigates decisions taken at the project level in establishing and managing collaborative ICT projects under the European Framework Programme Horizon 2020. Based on interviews with project coordinators from European research organizations, we offer a detailed examination of how projects are built and managed, and how decisions influence the formation of collaborative networks. Projects are typically set up in three stages. In the first, a smaller group that has worked together before decides on the main idea. This leads in the second stage to a gradual invitation of pa
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Zhou, Ping, Lichao Yang, Pingbo Hu, Yang Cheng, and Shenghan Zhou. "Inter-provincial differences of technical innovation efficiency among farmer professional cooperatives in China." Science and Public Policy 47, no. 3 (2020): 410–24. http://dx.doi.org/10.1093/scipol/scaa022.

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Abstract The technical innovation efficiency of farmer professional cooperatives has a far-reaching impact on the economic transformation and development in rural China, but it has been rarely studied. Addressing this gap, this article builds an index evaluating system for the technical innovation efficiency of provinces through a three-stage data envelopment analysis model that measures the relative efficiency of the technical innovation of cooperatives in China’s thirty-one provinces. The results show that the Eastern and Central provinces in China are more efficient than the Western provinc
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Pozzo, Riccardo, Andrea Filippetti, Mario Paolucci, and Vania Virgili. "What does cultural innovation stand for? Dimensions, processes, outcomes of a new innovation category." Science and Public Policy 47, no. 3 (2020): 425–33. http://dx.doi.org/10.1093/scipol/scaa023.

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Abstract This article introduces the notion of cultural innovation, which requires adapting our approach to co-creation. The argument opens with a first conceptualization of cultural innovation as an additional and autonomous category of the complex processes of co-creation. The dimensions of cultural innovation are contrasted against other forms of innovation. In a second step, the article makes an unprecedented attempt in describing processes and outcomes of cultural innovation, while showing their operationalization in some empirical case studies. In the conclusion, the article considers po
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Zhang, Gupeng, Libin Xiong, Xiao Wang, Jianing Dong, and Hongbo Duan. "Artificial selection versus natural selection: Which causes the Matthew effect of science funding allocation in China?" Science and Public Policy 47, no. 3 (2020): 434–45. http://dx.doi.org/10.1093/scipol/scaa024.

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Abstract To investigate either artificial or natural selection leads to the Matthew effect in the science funding allocation and its consequences, this study retrieves 274,732 publications by Chinese scientists from the Web of Science and examines how the disparity of science funding determines scientists’ research performance. We employ the Negative Binomial Model and other models to regress the publication’s citation times, which measures the research performance, on the number of funding grants and their amounts of currency that the publication receives, which measures the disparity of scie
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Cagnoli, Claudia, Chiara Michielotto, Tohru Matsuura, et al. "Detection of Large Pathogenic Expansions in FRDA1, SCA10, and SCA12 Genes Using a Simple Fluorescent Repeat-Primed PCR Assay." Journal of Molecular Diagnostics 6, no. 2 (2004): 96–100. http://dx.doi.org/10.1016/s1525-1578(10)60496-5.

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27

Усенко, Т. С., А. И. Безрукова, Д. А. Богданова, et al. "Expression of alpha-synuclein gene and genes of lysosomal membrane proteins and enzymes in Parkinson’s disease associated with mutation in the GBA gene." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 4(213) (April 30, 2020): 107–8. http://dx.doi.org/10.25557/2073-7998.2020.04.107-108.

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Мутации в гене, кодирующем лизосомный фермент глюкоцереброзидазу (GBA), являются фактором высокого риска болезни Паркинсона (БП). Остается неясным, почему не у всех носителей мутаций в данном гене в течение жизни развивается БП. Предполагается, что дисфункция мембранных белков и ферментов лизосом может способствовать развитию БП у носителей мутаций в гене GBA. В данном исследовании была оценена экспрессия генов альфа-синуклеина и LAMP2, GLA, GALNS, SCARB2 в CD45+ клетках периферической крови у пациентов с GBA-БП, бессимптомных носителей мутаций в гене GBA (GBA-носителей), а также в у пациентов
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Park, Won Sun, Jin Han, Nari Kim, Jae-Hong Ko, Sung Joon Kim, and Yung E. Earm. "Activation of inward rectifier K+ channels by hypoxia in rabbit coronary arterial smooth muscle cells." American Journal of Physiology-Heart and Circulatory Physiology 289, no. 6 (2005): H2461—H2467. http://dx.doi.org/10.1152/ajpheart.00331.2005.

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We examined the effects of acute hypoxia on Ba2+-sensitive inward rectifier K+ (KIR) current in rabbit coronary arterial smooth muscle cells. The amplitudes of KIR current was definitely higher in the cells from small-diameter (<100 μm) coronary arterial smooth muscle cells (SCASMC, −12.8 ± 1.3 pA/pF at −140 mV) than those in large-diameter coronary arterial smooth muscle cells (>200 μm, LCASMC, −1.5 ± 0.1 pA pF−1). Western blot analysis confirmed that Kir2.1 protein was expressed in SCASMC but not LCASMC. Hypoxia activated much more KIR currents in symmetrical 140 K+. This effect was bl
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Pavan, Eleonora, Paolo Peruzzo, Silvia Cattarossi, et al. "Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions." International Journal of Molecular Sciences 25, no. 12 (2024): 6615. http://dx.doi.org/10.3390/ijms25126615.

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Glucocerebrosidase (GCase) is a lysosomal enzyme that catalyzes the breakdown of glucosylceramide in the presence of its activator saposin C (SapC). SapC arises from the proteolytical cleavage of prosaposin (encoded by PSAP gene), which gives rise to four saposins. GCase is targeted to the lysosomes by LIMP-2, encoded by SCARB2 gene. GCase deficiency causes Gaucher Disease (GD), which is mainly due to biallelic pathogenetic variants in the GCase-encoding gene, GBA1. However, impairment of GCase activity can be rarely caused by SapC or LIMP-2 deficiencies. We report a new case of LIMP-2 deficie
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Moro, Adriana, and Hélio Afonso Ghizoni Teive. "Cognitive impairment in Spinocerebellar ataxia type 10." Dementia & Neuropsychologia 10, no. 4 (2016): 310–14. http://dx.doi.org/10.1590/s1980-5764-2016dn1004009.

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ABSTRACT Background: Cognitive and psychiatric dysfunction has been described in several neurodegenerative diseases but has not been systematically evaluated in spinocerebellar ataxia type 10 (SCA10). Objective: The aim of the present study was to investigate the core cognitive features in a large cohort of Brazilian patients with SCA10, comparing the results against a healthy control group. Methods: Twenty-eight SCA10 and 28 healthy subjects were prospectively assessed regarding cognitive function and psychiatric disorders at the Movement Disorders Unit of the Federal University of Paraná bet
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Cho, Jin Whan, Sung Yeon Kim, Sung Sup Park, and Beom S. Jeon. "Spinocerebellar Ataxia Type 12 was not Found in Korean Parkinsonian Patients." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 35, no. 4 (2008): 488–90. http://dx.doi.org/10.1017/s0317167100009161.

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Background:Parkinsonism (PD) is occasionally seen in several types of spinocerebellar ataxia (SCA). Mutations in SCA gene have been reported in the patients of parkinsonism without ataxia.Methods:We examined spinocerebellar ataxia type 12 mutation in 877 PD and 199 multiple system atrophy (MSA) patients.Results and Conclusions:No patients showed abnormal SCA12 expansion. It suggests that PD and MSA are not associated with SCA12 and it is not necessary to screen SCA12 in PD and MSA patients.
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Han, Fengyue, Dan Su, and Chuanqiang Qu. "Spinocerebellar ataxia type 40: A case report and literature review." Translational Neuroscience 12, no. 1 (2021): 379–84. http://dx.doi.org/10.1515/tnsci-2020-0190.

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Abstract Spinocerebellar ataxias (SCAs) are a group of neurodegenerative diseases with ataxia as the main clinical manifestation. The phenotypes, gene mutations, and involved sites of different subtypes show a high degree of heterogeneity. The incidence of SCA varies greatly among different subtypes and the case of SCA40 is extremely rare. The aim of this study is to report a rare case of SCA40 and systematically review the incidence, gene mutation, and phenotype of SCAs, especially SCA40.
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Gálvez-Nieto, José Luis, Ítalo Trizano-Hermosilla, Karina Polanco-Levicán, Ignacio Norambuena-Paredes, Maura Klenner-Loebel, and Sandra Riquelme-Sandoval. "Longitudinal Measurement Invariance of the Dual School Climate and School Identification Scale (SCASIM-St15) in Chilean Adolescents." Behavioral Sciences 15, no. 6 (2025): 750. https://doi.org/10.3390/bs15060750.

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School climate is a highly relevant construct in the educational field; however, most research adopts cross-sectional designs, which limits the understanding of its stability and development over time. Consequently, this study aimed to assess the degree of the longitudinal invariance of the SCASIM-St15 in a sample of adolescent students throughout their secondary education trajectory. A longitudinal panel design was used, with one-year intervals, covering the entire secondary education cycle and following the same cohort of 679 Chilean students across four measurements: wave 1 = 1st year of se
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S, Megha, Nanda Kumar S, Christina Mary George, and Anish Mehta. "Abstract No: 380 Tracing The Unknown: Physiotherapy Insights from a Rare Case of Spinocerebellar Ataxia Type 40." Journal of Society of Indian Physiotherapists 9, no. 1 (2025): 110. https://doi.org/10.4103/jsip.jsip_2025_vol_abstract_s41.

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Purpose: To document a rare case of Spinocerebellar Ataxia Type 40 (SCA40) in a 58-year-old Indian female, highlighting her progressive symptoms, diagnosis, and physiotherapy management challenges, focusing on exploring physiotherapy’s role in managing symptoms and improving her Activities of Daily Living. Relevance: SCA is a type of Autosomal dominant cerebellar Ataxia. The main clinical manifestation of SCA is Cerebellar ataxia, often accompanied by non-ataxia signs. There are over 40 types of SCA. SCA40 is rarely encountered globally (less than 1 in 1,000,000) and presents unique challenges
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Teive, Hélio Afonso Ghizoni, Adriana Moro, Mariana Moscovich, et al. "Spinocerebellar ataxia type 10 in the South of Brazil: the Amerindian-Belgian connection." Arquivos de Neuro-Psiquiatria 73, no. 8 (2015): 725–27. http://dx.doi.org/10.1590/0004-282x20150086.

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Spinocerebellar ataxia type 10 (SCA10) is a rare form of autosomal dominant ataxia found predominantly in patients from Latin America with Amerindian ancestry. The authors report the history of SCA10 families from the south of Brazil (the states of Paraná and Santa Catarina), emphasizing the Belgian-Amerindian connection.
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Teive, Hélio A. G., Walter O. Arruda, Salmo Raskin, Tetsuo Ashizawa, and Lineu César Werneck. "The history of spinocerebellar ataxia type 10 in Brazil: travels of a gene." Arquivos de Neuro-Psiquiatria 65, no. 4a (2007): 965–68. http://dx.doi.org/10.1590/s0004-282x2007000600008.

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The authors report the history of spinocerebellar ataxia 10 (SCA10), since its first report in a large Portuguese-ancestry Family with autosomal dominant pure cerebellar ataxia, till the final identification of further families without Mexican ancestry. These families present a quite different phenotype from those SCA10 families described in Mexico.
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Montaser, Eslam, Leon S. Farhy, and Boris P. Kovatchev. "Novel Detection and Progression Markers for Diabetes Based on Continuous Glucose Monitoring Data Dynamics." Journal of Clinical Endocrinology & Metabolism, May 31, 2024. http://dx.doi.org/10.1210/clinem/dgae379.

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Abstract Purpose Develop a diabetes diagnostic tool based on two markers of continuous glucose monitoring (CGM) dynamics: CGM entropy rate (ER) and Poincaré plot (PP) ellipse area (S). Methods 5,754 daily CGM profiles from 843 individuals with type 1, type 2 diabetes, or healthy individuals with or without islet autoantibody status were used to compute two individual dynamic markers: ER (in bits per transition; BPT) of daily probability matrices describing CGM transitions between eight glycemic states, and the area S (mg2/dL2) of individual CGM PP ellipses using standard PP descriptors. The Yo
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Li, Yinghui, Xingchen Liu, Xue Sun, et al. "Gut dysbiosis impairs intestinal renewal and lipid absorption in Scarb2 deficiency-associated neurodegeneration." Protein & Cell, April 18, 2024. http://dx.doi.org/10.1093/procel/pwae016.

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Abstract Scavenger receptor class B, member 2 (SCARB2) is linked to Gaucher disease (GD) and Parkinson’s disease (PD). Deficiency in the SCARB2 gene causes progressive myoclonus epilepsy (PME), a rare group of inherited neurodegenerative diseases characterized by myoclonus. We found that Scarb2 deficiency in mice leads to age-dependent dietary lipid malabsorption, accompanied with vitamin E deficiency. Our investigation revealed that Scarb2 deficiency is associated with gut dysbiosis and an altered bile acid pool, leading to hyperactivation of FXR in intestine. Hyperactivation of FXR impairs e
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Lécole, Pauline, and Marc Moraine. "La PAC au service des collectifs agricoles : enseignements de projets agroécologiques innovants." Agronomie, environnement & sociétés 11, no. 1 (2021). http://dx.doi.org/10.54800/sca520.

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Dans cet article, nous questionnons l’apport des collectifs agricoles à la transition agroécologique et les opportunités que la Politique agricole commune offre pour leurs financements. Pour cela, nous présentons deux études de cas de projets agroécologiques innovants qui illustrent les avantages conférés par leur dimension collective. Nous réalisons ensuite un état des lieux des dispositifs qui existent dans la PAC 2014-2020 pour soutenir les collectifs agricoles. En plus des projets de territoires bien connus comme LEADER, ces dispositifs favorisent la mutualisation de capital physique et da
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Wang, Feng, Yang Gao, Situ Xue, et al. "SCARB2 drives hepatocellular carcinoma tumor initiating cells via enhanced MYC transcriptional activity." Nature Communications 14, no. 1 (2023). http://dx.doi.org/10.1038/s41467-023-41593-z.

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AbstractCSCs (Cancer stem cells) with distinct metabolic features are considered to cause HCC (hepatocellular carcinoma) initiation, metastasis and therapeutic resistance. Here, we perform a metabolic gene CRISPR/Cas9 knockout library screen in tumorspheres derived from HCC cells and find that deletion of SCARB2 suppresses the cancer stem cell-like properties of HCC cells. Knockout of Scarb2 in hepatocytes attenuates HCC initiation and progression in both MYC-driven and DEN (diethylnitrosamine)-induced HCC mouse models. Mechanistically, binding of SCARB2 with MYC promotes MYC acetylation by in
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Aumont‐Rodrigue, Gabriel, Cynthia Picard, Anne Labonté, and Judes Poirier. "SCARF2 in the CSF of Asymptomatic subjects With a Parental History of AD and in the Cortex of Autopsy‐Confirmed Alzheimer’s Disease Cases." Alzheimer's & Dementia 20, S1 (2024). https://doi.org/10.1002/alz.086182.

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AbstractBackgroundScavenger receptors (SR) are a group of receptors involved in the endocytosis of various ligands, such as modified LDL and soluble β‐amyloid, which connects them to Alzheimer’s disease (AD). SCARF2 (SREC‐II) is part of the SR family, but unlike other scavenger receptors, internalizes a low amount of modified LDL. Its main function revolves around the binding of Aβ (Vo et al. 2023). Other studies found SCARF2 to be a SCARF1 inhibitor (Ishii et al. 2002). This study compares gene expression and protein levels of SCARF2 in post‐mortem brain tissue of AD and control subjects, as
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Cmarko, Leos, Robin N. Stringer, Bohumila Jurkovicova-Tarabova, Tomas Vacik, Lubica Lacinova, and Norbert Weiss. "Secretory carrier-associated membrane protein 2 (SCAMP2) regulates cell surface expression of T-type calcium channels." Molecular Brain 15, no. 1 (2022). http://dx.doi.org/10.1186/s13041-021-00891-7.

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AbstractLow-voltage-activated T-type Ca2+ channels are key regulators of neuronal excitability both in the central and peripheral nervous systems. Therefore, their recruitment at the plasma membrane is critical in determining firing activity patterns of nerve cells. In this study, we report the importance of secretory carrier-associated membrane proteins (SCAMPs) in the trafficking regulation of T-type channels. We identified SCAMP2 as a novel Cav3.2-interacting protein. In addition, we show that co-expression of SCAMP2 in mammalian cells expressing recombinant Cav3.2 channels caused an almost
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Zonta, Marise, Helio Afonso Teive, Carlos Camargo, et al. "Understanding the natural history of SCA2, SCA3 and SCA10 through clinical scales (4500)." Neurology 96, no. 15_supplement (2021). http://dx.doi.org/10.1212/wnl.96.15_supplement.4500.

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Arrigoni, Paolo, Jacob C. Ruprecht, Dawn A. D. Chasse, et al. "Optimization of Meniscus Cell Transduction Using Lentivirus and Adeno-Associated Virus for Gene Editing and Tissue Engineering Applications." CARTILAGE, October 14, 2019, 194760351988032. http://dx.doi.org/10.1177/1947603519880321.

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Objectives The utilization of viral vectors to deliver genes of interest directly to meniscus cells and promote long-term modulation of gene expression may prove useful to enhance meniscus repair and regeneration. The objective of this study was to optimize and compare the potential of lentivirus (LV) and adeno-associated virus (AAV) to deliver transgenes to meniscus cells in both intact meniscus tissue and isolated primary cells in monolayer. Design Porcine meniscus tissue explants and primary meniscus cells in monolayer were transduced with LV or self-complementary AAV2 (scAAV2) encoding gre
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Kobayashi, Kyousuke, and Satoshi Koike. "Cellular receptors for enterovirus A71." Journal of Biomedical Science 27, no. 1 (2020). http://dx.doi.org/10.1186/s12929-020-0615-9.

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AbstractEnterovirus 71 (EV-A71) is one of the major causative agents of hand, foot, and mouth disease. EV-A71 infection is sometimes associated with severe neurological diseases such as acute encephalitis, acute flaccid paralysis, and cardiopulmonary failure. Therefore, EV-A71 is a serious public health concern. Scavenger receptor class B, member 2 (SCARB2) is a type III transmembrane protein that belongs to the CD36 family and is a major receptor for EV-A71. SCARB2 supports attachment and internalization of the virus and initiates conformational changes that lead to uncoating of viral RNA in
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Yue, Can, Siting Xie, Jiaying Zhong, et al. "SCAMP2/5 as diagnostic and prognostic markers for acute myeloid leukemia." Scientific Reports 11, no. 1 (2021). http://dx.doi.org/10.1038/s41598-021-96440-2.

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AbstractThe secretory carrier-associated membrane proteins (SCAMPs) are associated with the development of multiple human cancers. The role of SCAMPs in acute myeloid leukemia (AML), however, remains to be identified. In the present study, we explored expression patterns and prognostic value of SCAMPs and network analysis of SCAMPs-related signaling pathways in AML using Oncomine, GEPIA, cBioPortal, LinkedOmics, DAVID and Metascape databases. Genetic alteration analysis revealed that the mutation rate of SCAMP genes was below 1% (9/1272) in AML, and there was no significant correlation between
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Wang, Sai, Yuanyi Yue, Xueqing Wang, Yue Tan, and Qiang Zhang. "SCARF2 is a target for chronic obstructive pulmonary disease: Evidence from multi‐omics research and cohort validation." Aging Cell, July 3, 2024. http://dx.doi.org/10.1111/acel.14266.

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AbstractAge‐related chronic inflammatory lung diseases impose a threat on public health, including idiopathic pulmonary fibrosis (IPF) and chronic obstructive pulmonary disease (COPD). However, their etiology and potential targets have not been clarified. We performed genome‐wide meta‐analysis for IPF with the largest sample size (2883 cases and 741,929 controls) and leveraged the summary statistics of COPD (17,547 cases and 617,598 controls). Transcriptome‐wide and proteome‐wide Mendelian randomization (MR) designs, together with genetic colocalization, were implemented to find robust targets
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Gálvez-Nieto, José Luis, Karina Polanco-Levican, and Juan Carlos Beltrán-Véliz. "Psychometric Examination of the Abbreviated Version of the Dual School Climate and School Identification Measure-Student (SCASIM-St15) in a Sample of Chilean Adolescents." Frontiers in Psychology 12 (February 3, 2021). http://dx.doi.org/10.3389/fpsyg.2021.576051.

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School climate is a multidimensional construct that has been related to a series of psychological, social, and school variables. The dual school climate and school identification measure-student (SCASIM-St) is a measure that has a multidimensional factor structure, with four first-order factors and a second-order factor, plus an independent factor that evaluates school identification. However, the SCASIM-St is long, with 38 items measuring school climate. The first objective of this study was to examine the psychometric properties of reliability and validity of the abbreviated version of the d
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Vo-Nguyen, Hai-Vy, Thuoc Linh Tran, and Hieu Tran-Van. "The Role of Disulfide Bridges in the Interaction of E. coli -Derived Recombinant SCARB2 and EV-A71's Capsid." Avicenna Journal of Medical Biotechnology, January 25, 2025. https://doi.org/10.18502/ajmb.v17i1.17675.

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Background: Hand, Foot, and Mouth disease is an acute infectious disease caused by a group of enteroviruses, including Coxsackievirus A16 and Enterovirus 71. EV-A71-causing disease can give rise to severe complications in children, leading to meningitis, encephalitis, and even death. A potential approach to prevent the virus spread is inhibiting the invasion of EV-A71 into target cells, thereby helping to prevent not only the spread of EV-A71 in the community but also lessen the risk of outbreaks. EV-A71 cell’s receptor, human scavenger receptor class B member 2, SCARB2, was used as a trap to
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Duan, Feng Yuan, Zeng-Qing Du, Yang Wang, et al. "The effects of SCARB2 and SELPLG gene polymorphisms on EV71 infection in hand, foot and mouth disease." Biomolecules and Biomedicine, April 19, 2023. http://dx.doi.org/10.17305/bb.2023.8948.

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The same viral infection in different hosts may result in varying levels of clinical symptoms, which is related to the genetic background of the host itself. A total of 406 common cases and 452 severe cases of enterovirus 71 (EV71) infection in Yunnan Province were selected as the research subjects, and SNaPshot technology was used to detect genetic polymorphisms for 25 Tag single-nucleotide polymorphisms (TagSNPs) in the selectin P ligand (SELPLG) and scavenger receptor class B member 2 (SCARB2) genes. Our results demonstrate that SCARB2 polymorphisms (rs74719289, rs3733255 and rs17001551) ar
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