Abstract:
:Lysosomes play a critical role in maintenance of the integrity of neuronal function, and mutations in genes that contribute to lysosome formation, transport, and activity are associated with neurodegenerative disorders. Recently, the multisubunit complex, BLOC-one-related complex (BORC), has been shown to be involved in positioning lysosomes within the cytoplasm, although the consequences of altered BORC function in adult animals have not been established. We show that a spontaneous truncation mutation in the mouse Borcs7 gene, identified through whole-genome sequencing followed by genetic complementation, results in progressive axonal dystrophy with dramatic impairment of motor function. Furthermore, mice homozygous for deletion of the entire Borcs7 coding sequence die shortly after birth, and neurons cultured from these animals show impaired centrifugal transport of lysosomes. This identifies BORCS7 as a central factor in axonal transport of lysosomes and a possible target for improving disease-related disturbances in this important function.
journal_name
Cell Repjournal_title
Cell reportsauthors
Snouwaert JN,Church RJ,Jania L,Nguyen M,Wheeler ML,Saintsing A,Mieczkowski P,Manuel de Villena FP,Armao D,Moy SS,Lorenzo DN,Koller BHdoi
10.1016/j.celrep.2018.06.118subject
Has Abstractpub_date
2018-07-31 00:00:00pages
1254-1265issue
5issn
2211-1247pii
S2211-1247(18)31075-1journal_volume
24pub_type
杂志文章相关文献
Cell Reports文献大全abstract::Phenylalanine-glycine-rich nucleoporins (FG-Nups) are intrinsically disordered proteins, constituting the selective barrier of the nuclear pore complex (NPC). Previous studies showed that nuclear transport receptors (NTRs) were found to interact with FG-Nups by forming an "archetypal-fuzzy" complex through the rapid f...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2018.03.022
更新日期:2018-03-27 00:00:00
abstract::Genome editing has now been reported in many systems using TALEN and CRISPR-Cas9 nucleases. Precise mutations can be introduced during homology-directed repair with donor DNA carrying the wanted sequence edit, but efficiency is usually lower than for gene knockout and optimal strategies have not been extensively inves...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2016.02.018
更新日期:2016-03-08 00:00:00
abstract::The serine/threonine protein phosphatase 5 (PP5) regulates multiple cellular signaling networks. A number of cellular factors, including heat shock protein 90 (Hsp90), promote the activation of PP5. However, it is unclear whether post-translational modifications also influence PP5 phosphatase activity. Here, we show a...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2017.10.074
更新日期:2017-11-14 00:00:00
abstract::Plant growth and development are defined by environmental cues. The transcription factor PHYTOCHROME INTERACTING FACTOR 4 (PIF4) is the central signaling hub that integrates environmental cues, including light and temperature, to regulate growth and development. The thermosensory mechanisms controlling the PIF4-mediat...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2016.12.046
更新日期:2017-01-10 00:00:00
abstract::The interferon (IFN)-induced transmembrane (IFITM) proteins are critical mediators of the host antiviral response. Here, we expand the role of IFITM proteins to host defense against intracellular bacterial infection by demonstrating that they restrict Mycobacterium tuberculosis (MTb) intracellular growth. Simultaneous...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2015.09.048
更新日期:2015-11-03 00:00:00
abstract::Metabolically healthy obese subjects display preserved insulin sensitivity and a beneficial white adipose tissue gene expression pattern. However, this observation stems from fasting studies when insulin levels are low. We investigated adipose gene expression by 5'Cap-mRNA sequencing in 17 healthy non-obese (NO), 21 i...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2016.07.070
更新日期:2016-08-30 00:00:00
abstract::Long noncoding RNAs (lncRNAs) are pervasively expressed in mammals, although their functions during development remain poorly understood. In this issue of Cell Reports, Delpretti et al. and Li et al. suggest essential roles for lncRNAs in coordinating Hox gene expression. ...
journal_title:Cell reports
pub_type: 评论,杂志文章
doi:10.1016/j.celrep.2013.09.033
更新日期:2013-10-17 00:00:00
abstract::We assessed the subsistence-related variation of the human gut microbiome at a fine resolution for two of the main dimensions of microbiome variation, age and geography. For this, we investigated the fecal microbiome and metabolome in rural Bassa and urbanized individuals from Nigeria, including infants, and compared ...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2018.05.018
更新日期:2018-06-05 00:00:00
abstract::Understanding how antibiotics impact bacterial metabolism may provide insight into their mechanisms of action and could lead to enhanced therapeutic methodologies. Here, we profiled the metabolome of Escherichia coli after treatment with three different classes of bactericidal antibiotics (?-lactams, aminoglycosides, ...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2015.09.059
更新日期:2015-11-03 00:00:00
abstract::The t(8;21) acute myeloid leukemia (AML)-associated oncoprotein AML1-ETO disrupts normal hematopoietic differentiation. Here, we have investigated its effects on the transcriptome and epigenome in t(8,21) patient cells. AML1-ETO binding was found at promoter regions of active genes with high levels of histone acetylat...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2016.08.082
更新日期:2016-11-15 00:00:00
abstract::During an infection the antigen-nonspecific memory CD8 T cell compartment is not simply an inert pool of cells, but becomes activated and cytotoxic. It is unknown how these cells contribute to the clearance of an infection. We measured the strength of T cell receptor (TCR) signals that bystander-activated, cytotoxic C...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2013.02.020
更新日期:2013-03-28 00:00:00
abstract::Apolipoprotein M (apoM) is the carrier of sphingosine-1-phosphate (S1P) in plasma high-density lipoproteins. S1P is a bioactive lipid interacting with five receptors (S1P1-5). We show that lack of apoM in mice increases the amount of brown adipose tissue (BAT), accelerates the clearance of postprandial triglycerides, ...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2017.12.029
更新日期:2018-01-02 00:00:00
abstract::Granule cells (GCs) of the cerebellar input layer express high-affinity δ GABAA subunit-containing GABAA receptors (δGABAARs) that respond to ambient GABA levels and context-dependent neuromodulators like steroids. We find that GC-specific deletion of δGABAA (cerebellar [cb] δ knockout [KO]) decreases tonic inhibition...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2020.108338
更新日期:2020-11-03 00:00:00
abstract::Emerging evidence has shown that noncoding RNAs, particularly microRNAs (miRNAs), contribute to the pathogenesis of mood and anxiety disorders, although the molecular mechanisms are poorly understood. Here, we show that altered levels of miR-17-92 in adult hippocampal neural progenitors have a significant impact on ne...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2016.06.101
更新日期:2016-08-09 00:00:00
abstract::The cytokine interleukin-1β (IL-1β) is critical for antimicrobial defenses; the inflammasome pathway typically controls IL-1β release, but pathogens often evade this pathway. In this issue, Donado et al. (2020) describe an alternative, two-cell model, to instruct inflammasome-independent IL-1β release. ...
journal_title:Cell reports
pub_type: 评论,杂志文章
doi:10.1016/j.celrep.2020.03.045
更新日期:2020-04-07 00:00:00
abstract::Genetic and clinical association studies have identified disrupted in schizophrenia 1 (DISC1) as a candidate risk gene for major mental illness. DISC1 is interrupted by a balanced chr(1;11) translocation in a Scottish family in which the translocation predisposes to psychiatric disorders. We investigate the consequenc...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2015.07.061
更新日期:2015-09-01 00:00:00
abstract::Whereas hundreds of cells in the mouse embryonic aorta transdifferentiate to hematopoietic cells, only very few establish hematopoietic stem cell (HSC) identity at a single time point. The Gata2 transcription factor is essential for HSC generation and function. In contrast to surface-marker-based cell isolation, Gata2...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2020.107627
更新日期:2020-05-12 00:00:00
abstract::Metazoan genomes are partitioned into modular chromosomal domains containing active or repressive chromatin. In flies, Polycomb group (PcG) response elements (PREs) recruit PHO and other DNA-binding factors and act as nucleation sites for the formation of Polycomb repressive domains. The sequence specificity of PREs i...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2014.08.072
更新日期:2014-10-09 00:00:00
abstract::Nonalcoholic fatty liver disease is the most common chronic liver disorder in developed countries. Its pathogenesis is poorly understood, and therapeutic options are limited. Here, we show that SIRT7, an NAD(+)-dependent H3K18Ac deacetylase, functions at chromatin to suppress ER stress and prevent the development of f...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2013.10.007
更新日期:2013-11-14 00:00:00
abstract::Leptin has beneficial effects on glucose metabolism via actions in the hypothalamus, but the roles of specific subgroups of neurons responsible for these antidiabetic effects remain unresolved. We generated diabetic Lep(ob/ob) or Lepr(db/db) mice lacking or re-expressing leptin receptors (LepRb) in subgroups of neuron...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2014.04.010
更新日期:2014-05-22 00:00:00
abstract::Supernumerary centrosomes promote the assembly of abnormal spindles in many human cancers. The observation that modest changes in the centrosomal levels of Mps1 kinase can cause centrosome overduplication in human cells suggests the existence of a regulatory system that may tightly control its centrosomal stability. H...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2015.10.039
更新日期:2015-11-24 00:00:00
abstract::Even though hyperthermia is a promising treatment for cancer, the relationship between specific temperatures and clinical benefits and predictors of sensitivity of cancer to hyperthermia is poorly understood. Ovarian and uterine tumors have diverse hyperthermia sensitivities. Integrative analyses of the specific gene ...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2016.10.020
更新日期:2016-11-01 00:00:00
abstract::Here, we ask how neural stem cells (NSCs) transition in the developing neocortex from a rapidly to a slowly proliferating state, a process required to maintain lifelong stem cell pools. We identify LRIG1, known to regulate receptor tyrosine kinase signaling in other cell types, as a negative regulator of cortical NSC ...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2020.108257
更新日期:2020-10-13 00:00:00
abstract::Chromodomain Helicase DNA binding protein 5 (CHD5) is a tumor suppressor mapping to 1p36, a genomic region that is frequently deleted in human cancer. Although CHD5 belongs to the CHD family of chromatin-remodeling proteins, whether its tumor-suppressive role involves an interaction with chromatin is unknown. Here we ...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2012.12.009
更新日期:2013-01-31 00:00:00
abstract::People tend to fall asleep when gently rocked or vibrated. Experimental studies have shown that rocking promotes sleep in humans and mice. However, the mechanisms underlying the phenomenon are not well understood. A habituation model proposes that habituation, a form of non-associative learning, mediates sleep inducti...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2020.108462
更新日期:2020-12-01 00:00:00
abstract::To ensure a successful infection, herpesviruses have developed elegant strategies to counterbalance the host anti-viral responses. Sterile alpha motif and HD domain 1 (SAMHD1) was recently identified as an intrinsic restriction factor for a variety of viruses. Aside from HIV-2 and the related simian immunodeficiency v...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2019.04.020
更新日期:2019-07-09 00:00:00
abstract::Endosomal sorting complexes required for transport (ESCRT) drive cell surface receptor degradation resulting in attenuation of oncogenic signaling and pointing to a tumor suppressor function. Here, we show that loss of function of an ESCRT protein (HD-PTP encoded by the PTPN23 gene, located on the tumor suppressor gen...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2016.04.076
更新日期:2016-05-31 00:00:00
abstract::Durable humoral immunity against epidemic infectious disease requires the survival of long-lived plasma cells (LLPCs). LLPC longevity is dependent on metabolic programs distinct from short-lived plasma cells (SLPCs); however, the mechanistic basis for this difference is unclear. We have previously shown that CD28, the...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2020.107815
更新日期:2020-06-23 00:00:00
abstract::The macrophage NLRC4 inflammasome drives potent innate immune responses against Salmonella by eliciting caspase-1-dependent proinflammatory cytokine production (e.g., interleukin-1β [IL-1β]) and pyroptotic cell death. However, the potential contribution of other cell types to inflammasome-mediated host defense against...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2014.06.028
更新日期:2014-07-24 00:00:00
abstract::Biomineralization of the extracellular matrix is an essential, regulated process. Inappropriate mineralization of bone and the vasculature has devastating effects on patient health, yet an integrated understanding of the chemical and cell biological processes that lead to mineral nucleation remains elusive. Here, we r...
journal_title:Cell reports
pub_type: 杂志文章
doi:10.1016/j.celrep.2019.05.038
更新日期:2019-06-11 00:00:00