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Academic literature on the topic 'Scar2015'

Author: Grafiati
Published: 27 July 2024
Last updated: 29 July 2024

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Journal articles on the topic "Scar2015"

1

Datta, Sanchari, Jade Bowerman, Hanaa Hariri, Rupali Ugrankar, Kaitlyn M. Eckert, Chase Corley, Gonçalo Vale, Jeffrey G. McDonald, and W. Mike Henne. "Snx14 proximity labeling reveals a role in saturated fatty acid metabolism and ER homeostasis defective in SCAR20 disease." Proceedings of the National Academy of Sciences 117, no. 52 (December 11, 2020): 33282–94. http://dx.doi.org/10.1073/pnas.2011124117.

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Fatty acids (FAs) are central cellular metabolites that contribute to lipid synthesis, and can be stored or harvested for metabolic energy. Dysregulation in FA processing and storage causes toxic FA accumulation or altered membrane compositions and contributes to metabolic and neurological disorders. Saturated lipids are particularly detrimental to cells, but how lipid saturation levels are maintained remains poorly understood. Here, we identify the cerebellar ataxia spinocerebellar ataxia, autosomal recessive 20 (SCAR20)-associated protein Snx14, an endoplasmic reticulum (ER)–lipid droplet (LD) tethering protein, as a factor required to maintain the lipid saturation balance of cell membranes. We show that following saturated FA (SFA) treatment, the ER integrity of SNX14KO cells is compromised, and both SNX14KO cells and SCAR20 disease patient-derived cells are hypersensitive to SFA-mediated lipotoxic cell death. Using APEX2-based proximity labeling, we reveal the protein composition of Snx14-associated ER–LD contacts and define a functional interaction between Snx14 and Δ-9 FA desaturase SCD1. Lipidomic profiling reveals that SNX14KO cells increase membrane lipid saturation following exposure to palmitate, phenocopying cells with perturbed SCD1 activity. In line with this, SNX14KO cells manifest delayed FA processing and lipotoxicity, which can be rescued by SCD1 overexpression. Altogether, these mechanistic insights reveal a role for Snx14 in FA and ER homeostasis, defects in which may underlie the neuropathology of SCAR20.
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2

Datta, Sanchari, Yang Liu, Hanaa Hariri, Jade Bowerman, and W. Mike Henne. "Cerebellar ataxia disease–associated Snx14 promotes lipid droplet growth at ER–droplet contacts." Journal of Cell Biology 218, no. 4 (February 14, 2019): 1335–51. http://dx.doi.org/10.1083/jcb.201808133.

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Lipid droplets (LDs) are nutrient reservoirs used by cells to maintain homeostasis. Nascent droplets form on the endoplasmic reticulum (ER) and grow following an influx of exogenous fatty acids (FAs). The budding of LDs requires extensive ER–LD crosstalk, but how this is regulated remains poorly understood. Here, we show that sorting nexin protein Snx14, an ER-resident protein associated with the cerebellar ataxia SCAR20, localizes to ER–LD contacts following FA treatment, where it promotes LD maturation. Using proximity-based APEX technology and topological dissection, we show that Snx14 accumulates specifically at ER–LD contacts independently of Seipin, where it remains ER-anchored and binds LDs in trans. SNX14KO cells exhibit perturbed LD morphology, whereas Snx14 overexpression promotes LD biogenesis and extends ER–LD contacts. Multi–time point imaging reveals that Snx14 is recruited to ER microdomains containing the fatty acyl-CoA ligase ACSL3, where nascent LDs bud. We propose that Snx14 is a novel marker for ER–LD contacts and regulates FA-stimulated LD growth.
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3

Levchenko, Olga, Alexandra Filatova, Irina Mishina, Aleksey Antonenko, and Mikhail Skoblov. "Homozygous deep intronic variant in SNX14 cause autosomal recessive Spinocerebellar ataxia 20: a case report." Frontiers in Genetics 14 (July 6, 2023). http://dx.doi.org/10.3389/fgene.2023.1197681.

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Autosomal recessive spinocerebellar ataxia type 20, SCAR20 (MIM: 616354) is a rare syndromic form of hereditary ataxias. It characterized by the presence of progressive ataxia, intellectual developmental disorder, autism and dysmorphic features. The disease caused by biallelic variants in SNX14 gene that lead to loss of protein function. Typically, these variants result in the formation of a premature stop codon, a shift in the reading frame or a variant in canonical splicing sites, as well as gross rearrangements. Here we present the first case of a deep intronic variant c.462-589A>G in SNX14 identified in two sisters with SCAR20 from a consanguineous family. This variant resulted in the inclusion of a pseudo-exon 82 nucleotides long and the formation of a premature stop codon, leading to the production of a truncated protein (NP_722523.1:p.Asp155Valfs*8). Following an extensive diagnostic search, the diagnosis was confirmed using trio whole genome sequencing. This case contributes to expanding the spectrum of potential genetic variants associated with SCAR20.
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4

Deng, Yushan, Peixin Chen, Jiedan Xiao, Mengrou Li, Jiayi Shen, Siying Qin, Tengfei Jia, et al. "SCAR: Single-cell and Spatially-resolved Cancer Resources." Nucleic Acids Research, September 22, 2023. http://dx.doi.org/10.1093/nar/gkad753.

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Abstract Advances in sequencing and imaging technologies offer a unique opportunity to unravel cell heterogeneity and develop new immunotherapy strategies for cancer research. There is an urgent need for a resource that effectively integrates a vast amount of transcriptomic profiling data to comprehensively explore cancer tissue heterogeneity and the tumor microenvironment. In this context, we developed the Single-cell and Spatially-resolved Cancer Resources (SCAR) database, a combined tumor spatial and single-cell transcriptomic platform, which is freely accessible at http://8.142.154.29/SCAR2023 or http://scaratlas.com. SCAR contains spatial transcriptomic data from 21 tumor tissues and single-cell transcriptomic data from 11 301 352 cells encompassing 395 cancer subtypes and covering a wide variety of tissues, organoids, and cell lines. This resource offers diverse functional modules to address key cancer research questions at multiple levels, including the screening of tumor cell types, metabolic features, cell communication and gene expression patterns within the tumor microenvironment. Moreover, SCAR enables the analysis of biomarker expression patterns and cell developmental trajectories. SCAR also provides a comprehensive analysis of multi-dimensional datasets based on 34 state-of-the-art omics techniques, serving as an essential tool for in-depth mining and understanding of cell heterogeneity and spatial location. The implications of this resource extend to both cancer biology research and cancer immunotherapy development.
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Books on the topic "Scar2015"

1

Thorpe, Vicki, and Stuart Wise. Educational Change and the Secondary School Music Curriculum in Aotearoa New Zealand. Taylor & Francis Group, 2018.

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Thorpe, Vicki, and Stuart Wise. Educational Change and the Secondary School Music Curriculum in Aotearoa New Zealand. Taylor & Francis Group, 2018.

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Educational Change and the Secondary School Music Curriculum in Aotearoa New Zealand. Routledge, 2018.

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4

Death and the Rock Star. Taylor & Francis Group, 2020.

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Death and the Rock Star. Taylor & Francis Group, 2015.

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Death and the Rock Star. Taylor & Francis Group, 2016.

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Death and the Rock Star. Taylor & Francis Group, 2016.

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