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Journal articles on the topic 'WDR41'

Author: Grafiati

Published: 7 July 2024

Last updated: 31 July 2025

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1

Amick, Joseph, Arun Kumar Tharkeshwar, Catherine Amaya,, and Shawn M. Ferguson. "WDR41 supports lysosomal response to changes in amino acid availability." Molecular Biology of the Cell 29, no. 18 (2018): 2213–27. http://dx.doi.org/10.1091/mbc.e17-12-0703.

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C9orf72 mutations are a major cause of amyotrophic lateral sclerosis and frontotemporal dementia. The C9orf72 protein undergoes regulated recruitment to lysosomes and has been broadly implicated in control of lysosome homeostasis. However, although evidence strongly supports an important function for C9orf72 at lysosomes, little is known about the lysosome recruitment mechanism. In this study, we identify an essential role for WDR41, a prominent C9orf72 interacting protein, in C9orf72 lysosome recruitment. Analysis of human WDR41 knockout cells revealed that WDR41 is required for localization

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2

Talaia, Gabriel, Joseph Amick, and Shawn M. Ferguson. "Receptor-like role for PQLC2 amino acid transporter in the lysosomal sensing of cationic amino acids." Proceedings of the National Academy of Sciences 118, no. 8 (2021): e2014941118. http://dx.doi.org/10.1073/pnas.2014941118.

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PQLC2, a lysosomal cationic amino acid transporter, also serves as a sensor that responds to scarcity of its substrates by recruiting a protein complex composed of C9orf72, SMCR8, and WDR41 to the surface of lysosomes. This protein complex controls multiple aspects of lysosome function. Although it is known that this response to changes in cationic amino acid availability depends on an interaction between PQLC2 and WDR41, the underlying mechanism for the regulated interaction is not known. In this study, we present evidence that the WDR41–PQLC2 interaction is mediated by a short peptide motif

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3

Tang, Dan, Jingwen Sheng, Liangting Xu, et al. "Cryo-EM structure of C9ORF72–SMCR8–WDR41 reveals the role as a GAP for Rab8a and Rab11a." Proceedings of the National Academy of Sciences 117, no. 18 (2020): 9876–83. http://dx.doi.org/10.1073/pnas.2002110117.

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A massive intronic hexanucleotide repeat (GGGGCC) expansion in C9ORF72 is a genetic origin of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Recently, C9ORF72, together with SMCR8 and WDR41, has been shown to regulate autophagy and function as Rab GEF. However, the precise function of C9ORF72 remains unclear. Here, we report the cryogenic electron microscopy (cryo-EM) structure of the human C9ORF72–SMCR8–WDR41 complex at a resolution of 3.2 Å. The structure reveals the dimeric assembly of a heterotrimer of C9ORF72–SMCR8–WDR41. Notably, the C-terminal tail of C9ORF72 and

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4

SHARMA, NISHA, REVANASIDDU D, SUSHIL KUMAR, et al. "Influence of WDR41 and ANKRD31 gene polymorphism on udder and teat type traits and mastitis in Karan Fries cows." Indian Journal of Animal Sciences 92, no. 2 (2022): 215–21. http://dx.doi.org/10.56093/ijans.v92i2.122096.

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In the present study, the effect of genetic polymorphism of WD-repeat containing protein 41 (WDR41) and Ankyrin repeat domain containing protein 31 (ANKRD31) gene on 17 traits related to udder and teat type and mastitis in 123 Karan Fries cows was studied. Restriction Fragment Length Polymorphism (RFLP) was used to identify the SNP (410 bp and 475 bp) in PCR amplified product of intron 4 and exon 10 in WDR41 gene. Both of them were polymorphic with Guanine to Adenine transition, and three genotypes namely AA, AG and GG were observed. In ANKRD31 gene, RFLP was used to identify the SNP in 513 bp

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McAlpine, William, Lei Sun, Kuan-wen Wang, et al. "Excessive endosomal TLR signaling causes inflammatory disease in mice with defective SMCR8-WDR41-C9ORF72 complex function." Proceedings of the National Academy of Sciences 115, no. 49 (2018): E11523—E11531. http://dx.doi.org/10.1073/pnas.1814753115.

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The SMCR8-WDR41-C9ORF72 complex is a regulator of autophagy and lysosomal function. Autoimmunity and inflammatory disease have been ascribed to loss-of-function mutations of Smcr8 or C9orf72 in mice. In humans, autoimmunity has been reported to precede amyotrophic lateral sclerosis caused by mutations of C9ORF72. However, the cellular and molecular mechanisms underlying autoimmunity and inflammation caused by C9ORF72 or SMCR8 deficiencies remain unknown. Here, we show that splenomegaly, lymphadenopathy, and activated circulating T cells observed in Smcr8−/− mice were rescued by triple knockout

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6

Tang, Dan, Jingwen Sheng, Liangting Xu, Chuangye Yan, and Shiqian Qi. "The C9orf72-SMCR8-WDR41 complex is a GAP for small GTPases." Autophagy 16, no. 8 (2020): 1542–43. http://dx.doi.org/10.1080/15548627.2020.1779473.

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7

Fukatsu, Shoya, Hinami Sashi, Remina Shirai, et al. "Rab11a Controls Cell Shape via C9orf72 Protein: Possible Relationships to Frontotemporal Dementia/Amyotrophic Lateral Sclerosis (FTDALS) Type 1." Pathophysiology 31, no. 1 (2024): 100–116. http://dx.doi.org/10.3390/pathophysiology31010008.

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Abnormal nucleotide insertions of C9orf72, which forms a complex with Smith–Magenis syndrome chromosomal region candidate gene 8 (SMCR8) protein and WD repeat-containing protein 41 (WDR41) protein, are associated with an autosomal-dominant neurodegenerative frontotemporal dementia and/or amyotrophic lateral sclerosis type 1 (FTDALS1). The differentially expressed in normal and neoplastic cells (DENN) domain-containing C9orf72 and its complex with SMCR8 and WDR41 function as a guanine-nucleotide exchange factor for Rab GTP/GDP-binding proteins (Rab GEF, also called Rab activator). Among Rab pro

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8

Liu, Kai, Youli Jian, Xiaojuan Sun, et al. "Negative regulation of phosphatidylinositol 3-phosphate levels in early-to-late endosome conversion." Journal of Cell Biology 212, no. 2 (2016): 181–98. http://dx.doi.org/10.1083/jcb.201506081.

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Phosphatidylinositol 3-phosphate (PtdIns3P) plays a central role in endosome fusion, recycling, sorting, and early-to-late endosome conversion, but the mechanisms that determine how the correct endosomal PtdIns3P level is achieved remain largely elusive. Here we identify two new factors, SORF-1 and SORF-2, as essential PtdIns3P regulators in Caenorhabditis elegans. Loss of sorf-1 or sorf-2 leads to greatly elevated endosomal PtdIns3P, which drives excessive fusion of early endosomes. sorf-1 and sorf-2 function coordinately with Rab switching genes to inhibit synthesis of PtdIns3P, allowing its

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9

Snyder, Anthony J., Andrew T. Abad, and Pranav Danthi. "A CRISPR-Cas9 screen reveals a role for WD repeat-containing protein 81 (WDR81) in the entry of late penetrating viruses." PLOS Pathogens 18, no. 3 (2022): e1010398. http://dx.doi.org/10.1371/journal.ppat.1010398.

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Successful initiation of infection by many different viruses requires their uptake into the endosomal compartment. While some viruses exit this compartment early, others must reach the degradative, acidic environment of the late endosome. Mammalian orthoreovirus (reovirus) is one such late penetrating virus. To identify host factors that are important for reovirus infection, we performed a CRISPR-Cas9 knockout (KO) screen that targets over 20,000 genes in fibroblasts derived from the embryos of C57/BL6 mice. We identified seven genes (WDR81, WDR91, RAB7, CCZ1, CTSL, GNPTAB, and SLC35A1) that w

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10

LIU, Nan, and ChongLin YANG. "WDR91-WDR81 complex-dependent endolysosomal trafficking and neural development." SCIENTIA SINICA Vitae 49, no. 7 (2019): 798–805. http://dx.doi.org/10.1360/ssv-2019-0100.

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Yang, Mei, Chen Liang, Kunchithapadam Swaminathan, et al. "A C9ORF72/SMCR8-containing complex regulates ULK1 and plays a dual role in autophagy." Science Advances 2, no. 9 (2016): e1601167. http://dx.doi.org/10.1126/sciadv.1601167.

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The intronic GGGGCC hexanucleotide repeat expansion in chromosome 9 open reading frame 72 (C9ORF72) is a prevalent genetic abnormality identified in both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). Smith-Magenis syndrome chromosomal region candidate gene 8 (SMCR8) is a protein with unclear functions. We report that C9ORF72 is a component of a multiprotein complex containing SMCR8, WDR41, and ATG101 (an important regulator of autophagy). The C9ORF72 complex displays guanosine triphosphatase (GTPase) activity and acts as a guanosine diphosphate–guanosine 5′-triphosphat

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Nörpel, Julia, Simone Cavadini, Andreas D. Schenk, et al. "Structure of the human C9orf72-SMCR8 complex reveals a multivalent protein interaction architecture." PLOS Biology 19, no. 7 (2021): e3001344. http://dx.doi.org/10.1371/journal.pbio.3001344.

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A major cause of familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) spectrum disorder is the hexanucleotide G4C2 repeat expansion in the first intron of the C9orf72 gene. Many underlying mechanisms lead to manifestation of disease that include toxic gain-of-function by repeat G4C2 RNAs, dipeptide repeat proteins, and a reduction of the C9orf72 gene product. The C9orf72 protein interacts with SMCR8 and WDR41 to form a trimeric complex and regulates multiple cellular pathways including autophagy. Here, we report the structure of the C9orf72-SMCR8 complex at 3.8 Å reso

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Leray, Xavier, Rossella Conti, Yan Li, et al. "Arginine-selective modulation of the lysosomal transporter PQLC2 through a gate-tuning mechanism." Proceedings of the National Academy of Sciences 118, no. 32 (2021): e2025315118. http://dx.doi.org/10.1073/pnas.2025315118.

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Lysosomes degrade excess or damaged cellular components and recycle their building blocks through membrane transporters. They also act as nutrient-sensing signaling hubs to coordinate cell responses. The membrane protein PQ-loop repeat-containing protein 2 (PQLC2; “picklock two”) is implicated in both functions, as it exports cationic amino acids from lysosomes and serves as a receptor and amino acid sensor to recruit the C9orf72/SMCR8/WDR41 complex to lysosomes upon nutrient starvation. Its transport activity is essential for drug treatment of the rare disease cystinosis. Here, we quantitativ

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Wada, Kouko, Manae Sato, Nanase Araki, et al. "Dynamics of WD-repeat containing proteins in SSU processome components." Biochemistry and Cell Biology 92, no. 3 (2014): 191–99. http://dx.doi.org/10.1139/bcb-2014-0007.

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Nine WD-repeat containing proteins in human SSU processome components have been found in a HeLa cell nuclear matrix fraction. In these proteins, t-UTP sub-complex components, i.e., CIRH1A, UTP15, and WDR43, were shown to be immobilized in the fibrillar centers of nucleoli in living cells. In this study, the dynamics of the remaining six proteins fused with green fluorescent protein (GFP), i.e., PWP2-GFP, TBL3-GFP, GFP-UTP18, GFP-NOL10, GFP-WDR46, and GFP-WDSOF1, were examined in living cells. The findings were as follows. (i) The majority of UTP-B sub-complex components, i.e., PWP2-GFP, TBL3-G

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Liu, Kai, Ruxiao Xing, Youli Jian, et al. "WDR91 is a Rab7 effector required for neuronal development." Journal of Cell Biology 216, no. 10 (2017): 3307–21. http://dx.doi.org/10.1083/jcb.201705151.

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Early-to-late endosome conversion, which is essential for delivery of endosomal cargoes to lysosomes, requires switching of early endosome–specific Rab5 and PtdIns3P to late endosome–specific Rab7 and PtdIns(3,5)P2. In this study, we identify the WD40-repeat protein WDR91 as a Rab7 effector that couples Rab switching with PtdIns3P down-regulation on endosomes. Loss of WDR91 greatly increases endosomal PtdIns3P levels, arresting endosomes at an intermediate stage and blocking endosomal–lysosomal trafficking. WDR91 is recruited to endosomes by interacting with active guanosine triphosophate–Rab7

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Seibler, Philip, Lena F. Burbulla, Marija Dulovic, et al. "Iron overload is accompanied by mitochondrial and lysosomal dysfunction in WDR45 mutant cells." Brain 141, no. 10 (2018): 3052–64. http://dx.doi.org/10.1093/brain/awy230.

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Abstract Beta-propeller protein-associated neurodegeneration is a subtype of monogenic neurodegeneration with brain iron accumulation caused by de novo mutations in WDR45. The WDR45 protein functions as a beta-propeller scaffold and plays a putative role in autophagy through its interaction with phospholipids and autophagy-related proteins. Loss of WDR45 function due to disease-causing mutations has been linked to defects in autophagic flux in patient and animal cells. However, the role of WDR45 in iron homeostasis remains elusive. Here we studied patient-specific WDR45 mutant fibroblasts and

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Rapiteanu, Radu, Luther J. Davis, James C. Williamson, Richard T. Timms, J. Paul Luzio, and Paul J. Lehner. "A Genetic Screen Identifies a Critical Role for the WDR81‐WDR91 Complex in the Trafficking and Degradation of Tetherin." Traffic 17, no. 8 (2016): 940–58. http://dx.doi.org/10.1111/tra.12409.

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18

Aring, Luisa, Eun-kyeong Choi, and Young-Ah Seo. "WDR45 Contributes to Iron Accumulation Through Dysregulation of Neuronal Iron Homeostasis." Current Developments in Nutrition 4, Supplement_2 (2020): 1188. http://dx.doi.org/10.1093/cdn/nzaa057_004.

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Abstract Objectives Neurodegeneration with brain iron accumulation (NBIA) is a clinically and genetically heterogeneous group of neurodegenerative diseases characterized by an abnormal accumulation of brain iron and progressive degeneration of the nervous system. β-propeller protein-associated neurodegeneration (BPAN) (OMIM #300,894) is a recently identified subtype of NBIA. BPAN is caused by de novo mutations in the WD repeat domain 45 (WDR45) gene. WDR45 deficiency in BPAN patients and animal models has shown defects in autophagic flux, suggesting a role for WDR45 in autophagy. How WDR45 def

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Liu, Xuezhao, Yang Li, Xin Wang, et al. "The BEACH-containing protein WDR81 coordinates p62 and LC3C to promote aggrephagy." Journal of Cell Biology 216, no. 5 (2017): 1301–20. http://dx.doi.org/10.1083/jcb.201608039.

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Autophagy-dependent clearance of ubiquitinated and aggregated proteins is critical to protein quality control, but the underlying mechanisms are not well understood. Here, we report the essential role of the BEACH (beige and Chediak–Higashi) and WD40 repeat-containing protein WDR81 in eliminating ubiquitinated proteins through autophagy. WDR81 associates with ubiquitin (Ub)-positive protein foci, and its loss causes accumulation of Ub proteins and the autophagy cargo receptor p62. WDR81 interacts with p62, facilitating recognition of Ub proteins by p62. Furthermore, WDR81 interacts with LC3C t

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Liu, Xuezhao, Limin Yin, Tianyou Li, Lingxi Lin, Jie Zhang, and Yang Li. "Reduction of WDR81 impairs autophagic clearance of aggregated proteins and cell viability in neurodegenerative phenotypes." PLOS Genetics 17, no. 3 (2021): e1009415. http://dx.doi.org/10.1371/journal.pgen.1009415.

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Neurodegenerative diseases are characterized by neuron loss and accumulation of undegraded protein aggregates. These phenotypes are partially due to defective protein degradation in neuronal cells. Autophagic clearance of aggregated proteins is critical to protein quality control, but the underlying mechanisms are still poorly understood. Here we report the essential role of WDR81 in autophagic clearance of protein aggregates in models of Huntington’s disease (HD), Parkinson’s disease (PD) and Alzheimer’s disease (AD). In hippocampus and cortex of patients with HD, PD and AD, protein level of

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Yang, Xin, Ting Luo, Zhixin Liu, Jiao Liu, and Zhuo Yang. "WD repeat domain 43 as a new predictive indicator and its connection with tumor immune cell infiltration in pan-cancer." Medicine 103, no. 31 (2024): e39153. http://dx.doi.org/10.1097/md.0000000000039153.

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Background: WD repeat domain 43 (WDR43) is a protein component that encodes WD-repeats and is involved in ribosome biogenesis. However, little is known about the role of WDR43 in cancer prognosis and immune modulation. Methods: In this study, we analyzed the expression and prognostic significance of WDR43 in pan-cancer using the Cancer Genome Atlas, the Genotype-Tissue Expression, and the Human Protein Atlas. We also examined the differential expression of WDR43 in liver hepatocellular carcinoma (LIHC) and adjacent tissues of 48 patients using immunohistochemistry. Additionally, we investigate

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Kannan, Meghna, Efil Bayam, Christel Wagner, et al. "WD40-repeat 47, a microtubule-associated protein, is essential for brain development and autophagy." Proceedings of the National Academy of Sciences 114, no. 44 (2017): E9308—E9317. http://dx.doi.org/10.1073/pnas.1713625114.

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The family of WD40-repeat (WDR) proteins is one of the largest in eukaryotes, but little is known about their function in brain development. Among 26 WDR genes assessed, we found 7 displaying a major impact in neuronal morphology when inactivated in mice. Remarkably, all seven genes showed corpus callosum defects, including thicker (Atg16l1, Coro1c, Dmxl2, and Herc1), thinner (Kif21b and Wdr89), or absent corpus callosum (Wdr47), revealing a common role for WDR genes in brain connectivity. We focused on the poorly studied WDR47 protein sharing structural homology with LIS1, which causes lissen

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Wang, Jie, Xiao-Lin Kou, Cheng Chen, et al. "Hippocampal Wdr1 Deficit Impairs Learning and Memory by Perturbing F-actin Depolymerization in Mice." Cerebral Cortex 29, no. 10 (2018): 4194–207. http://dx.doi.org/10.1093/cercor/bhy301.

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Abstract WD repeat protein 1 (Wdr1), known as a cofactor of actin-depolymerizing factor (ADF)/cofilin, is conserved among eukaryotes, and it plays a critical role in the dynamic reorganization of the actin cytoskeleton. However, the function of Wdr1 in the central nervous system remains elusive. Using Wdr1 conditional knockout mice, we demonstrated that Wdr1 plays a significant role in regulating synaptic plasticity and memory. The knockout mice exhibited altered reversal spatial learning and fear responses. Moreover, the Wdr1 CKO mice showed significant abnormalities in spine morphology and s

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Diaw, Sokhna Haissatou, Christos Ganos, Simone Zittel та ін. "Mutant WDR45 Leads to Altered Ferritinophagy and Ferroptosis in β-Propeller Protein-Associated Neurodegeneration". International Journal of Molecular Sciences 23, № 17 (2022): 9524. http://dx.doi.org/10.3390/ijms23179524.

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Beta-propeller protein-associated neurodegeneration (BPAN) is a subtype of neurodegeneration with brain iron accumulation (NBIA) caused by loss-of-function variants in WDR45. The underlying mechanism of iron accumulation in WDR45 deficiency remains elusive. We established a primary skin fibroblast culture of a new BPAN patient with a missense variant p.(Asn61Lys) in WDR45 (NM_007075.3: c.183C>A). The female patient has generalized dystonia, anarthria, parkinsonism, spasticity, stereotypies, and a distinctive cranial MRI with generalized brain atrophy, predominantly of the cerebellum. For th

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Huang, Huang, Jidong Yan, Xi Lan, et al. "LncRNA WDR11-AS1 Promotes Extracellular Matrix Synthesis in Osteoarthritis by Directly Interacting with RNA-Binding Protein PABPC1 to Stabilize SOX9 Expression." International Journal of Molecular Sciences 24, no. 1 (2023): 817. http://dx.doi.org/10.3390/ijms24010817.

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Osteoarthritis (OA) is a degenerative disease of articular cartilage that is mainly characterized by chronic and mild inflammation of the joints. Recently, many studies have reported the crucial roles of long noncoding RNAs (lncRNAs) in OA as gene transcriptional regulatory factors, diagnostic biomarkers, or therapeutic targets. However, the exact mechanisms of lncRNAs in the regulation of OA progression remain unclear. In the present study, the lncRNA WDR11 divergent transcript (lncRNA WDR11-AS1) was shown to be downregulated in osteoarthritic cartilage tissues from patients, and to promote e

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Reche-López, Diana, Ana Romero-González, Mónica Álvarez-Córdoba, et al. "Biotin Induces Inactive Chromosome X Reactivation and Corrects Physiopathological Alterations in Beta-Propeller-Protein-Associated Neurodegeneration." International Journal of Molecular Sciences 26, no. 3 (2025): 1315. https://doi.org/10.3390/ijms26031315.

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Neurodegeneration with brain iron accumulation (NBIA) involves a group of rare neurogenetic disorders often linked with iron overload in the basal nuclei of the brain presenting with spasticity, dystonia, muscle rigidity, neuropsychiatric symptoms, and retinal degeneration. Among NBIA subtypes, beta-propeller-protein-associated neurodegeneration (BPAN) is associated with mutations in the autophagy gene WDR45 (WD repeat domain 45). Previously, we demonstrated that WDR45 mutations in BPAN cellular models impaired autophagy, iron metabolism, and cell bioenergetics. In addition, antioxidant supple

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Suárez-Carrillo, Alejandra, Mónica Álvarez-Córdoba, Ana Romero-González, et al. "Antioxidants Prevent Iron Accumulation and Lipid Peroxidation, but Do Not Correct Autophagy Dysfunction or Mitochondrial Bioenergetics in Cellular Models of BPAN." International Journal of Molecular Sciences 24, no. 19 (2023): 14576. http://dx.doi.org/10.3390/ijms241914576.

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Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic disorders frequently associated with iron accumulation in the basal nuclei of the brain. Among NBIA subtypes, β-propeller protein-associated neurodegeneration (BPAN) is associated with mutations in the autophagy gene WDR45. The aim of this study was to demonstrate the autophagic defects and secondary pathological consequences in cellular models derived from two patients harboring WDR45 mutations. Both protein and mRNA expression levels of WDR45 were decreased in patient-derived fibroblasts. In addition, the i

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Lin, Chi, Juan Wang, Long Ouyang, Huaxin Duan, and Shasha Fan. "WDR4 as a potential indicator of clinical prognosis and immunotherapy in hepatocellular carcinoma." Journal of Clinical Oncology 42, no. 16_suppl (2024): e16275-e16275. http://dx.doi.org/10.1200/jco.2024.42.16_suppl.e16275.

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e16275 Background: Immunotherapy has garnered increasing attention in hepatocellular carcinoma (HCC) treatment. However, there remains a pressing need for effective immunological predictive biomarkers. In our previous study, utilizing data extracted from The Cancer Genome Atlas (TCGA) database, we identified a positive correlation between WDR4 expression levels in hepatocellular carcinoma and various clinical parameters, encompassing Stage, T-stage, pathological grade, AFP level, and vascular invasion. Additionally, higher WDR4 expression was linked to poorer prognosis. Leveraging The TIMER an

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Taylor, Kathryne E., and Karen L. Mossman. "Cellular Protein WDR11 Interacts with Specific Herpes Simplex Virus Proteins at thetrans-Golgi Network To Promote Virus Replication." Journal of Virology 89, no. 19 (2015): 9841–52. http://dx.doi.org/10.1128/jvi.01705-15.

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ABSTRACTIt has recently been proposed that the herpes simplex virus (HSV) protein ICP0 has cytoplasmic roles in blocking antiviral signaling and in promoting viral replication in addition to its well-known proteasome-dependent functions in the nucleus. However, the mechanisms through which it produces these effects remain unclear. While investigating this further, we identified a novel cytoplasmic interaction between ICP0 and the poorly characterized cellular protein WDR11. During an HSV infection, WDR11 undergoes a dramatic change in localization at late times in the viral replication cycle,

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Dasgupta, Swapan Kumar, Qi Da, Anhquyen Le, Miguel A. Cruz та Perumal Thiagarajan. "Wdr1-Mediated Actin Reorganization Is Essential for Integrin αIIbβ3 Activation in Platelets". Blood 126, № 23 (2015): 2231. http://dx.doi.org/10.1182/blood.v126.23.2231.2231.

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Abstract In resting platelets, the heterodimeric integrin αIIbβ3 is present in a low-affinity state. During platelet activation, the intracytoplasmic signals induce conformational changes that results in a swung-out conformation of the extracellular domain competent to bind ligands such as fibrinogen with high affinity to mediate platelet aggregation. Actin turnover is essential for this process and dynamic assembly and disassembly of actin filaments regulate it. We have identified Wdr1, a cofilin and actin binding protein containing WD40 repeats, as an essential component of the machinery tha

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Jussara Maria Gonçalves, João Luiz Dornelles Bastos, Elena Riet Correa Rivero, and Mabel Mariela Rodríguez Cordeiro. "Immunoexpression of tumor suppressor protein p53 and deubiquitinating enzymes in oral squamous cell carcinoma." RSBO 19, no. 1 (2022): 10–07. http://dx.doi.org/10.21726/rsbo.v19i1.1753.

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The ubiquitin-proteasome system is regulated by deubiquitinating enzymes (DUBs), which include the complex Ubiquitin-specific protease 1 (USP1) and WD40 repeat-containing protein 48 (WDR48). In normal conditions, these proteins contribute to genome integrity by regulating the DNA repair pathways. However, studies have associated abnormalities in this complex with the pathogenesis of cancer. Simultaneously, Tumor Suppressor Protein p53 is also regulated by ubiquitin-dependent degradation and its overexpression suggests that several DUBs are interacting and deubiquitinating this protein. Objecti

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Wang, Yu-Jia, Eko Mugiyanto, Yun-Ting Peng, et al. "Genetic Association of the Functional WDR4 Gene in Male Fertility." Journal of Personalized Medicine 11, no. 8 (2021): 760. http://dx.doi.org/10.3390/jpm11080760.

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Infertility is one of the important problems in the modern world. Male infertility is characterized by several clinical manifestations, including low sperm production (oligozoospermia), reduced sperm motility (asthenozoospermia), and abnormal sperm morphology (teratozoospermia). WDR4, known as Wuho, controls fertility in Drosophila. However, it is unclear whether WDR4 is associated with clinical manifestations of male fertility in human. Here, we attempted to determine the physiological functions of WDR4 gene. Two cohorts were applied to address this question. The first cohort was the general

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Montenont, Emilie, Christina Echagarruga, Nicole Allen, Elisa Araldi, Yajaira Suarez, and Jeffrey S. Berger. "Platelet WDR1 suppresses platelet activity and is associated with cardiovascular disease." Blood 128, no. 16 (2016): 2033–42. http://dx.doi.org/10.1182/blood-2016-03-703157.

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Key Points Platelet transcription of WDR1 suppresses platelet activity. Reduced transcription of WDR1 in platelets may be a link between elevated platelet activity and increased risk of cardiovascular disease.

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Bowes, Charnese, Michael Redd, Malika Yousfi, Muriel Tauzin, Emi Murayama, and Philippe Herbomel. "Coronin 1A depletion restores the nuclear stability and viability of Aip1/Wdr1-deficient neutrophils." Journal of Cell Biology 218, no. 10 (2019): 3258–71. http://dx.doi.org/10.1083/jcb.201901024.

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Actin dynamics is central for cells, and especially for the fast-moving leukocytes. The severing of actin filaments is mainly achieved by cofilin, assisted by Aip1/Wdr1 and coronins. We found that in Wdr1-deficient zebrafish embryos, neutrophils display F-actin cytoplasmic aggregates and a complete spatial uncoupling of phospho-myosin from F-actin. They then undergo an unprecedented gradual disorganization of their nucleus followed by eruptive cell death. Their cofilin is mostly unphosphorylated and associated with F-actin, thus likely outcompeting myosin for F-actin binding. Myosin inhibition

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Zhu, Jinhong, Xiaoping Liu, Wei Chen, et al. "Association of RNA m7G Modification Gene Polymorphisms with Pediatric Glioma Risk." BioMed Research International 2023 (January 24, 2023): 1–10. http://dx.doi.org/10.1155/2023/3678327.

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Glioma stemming from glial cells of the central nervous system (CNS) is one of the leading causes of cancer death in childhood. The genetic predisposition of glioma is not fully understood. METTL1-WDR4 methyltransferase complex is implicated in tumorigenesis by catalyzing N7-methylguanosine (m7G) modification of RNA. This study is aimed at determining the association of glioma risk with three polymorphisms (rs2291617, rs10877013, and rs10877012) in METTL1 and five polymorphisms (rs2156315 rs2156316, rs6586250, rs15736, and rs2248490) in WDR4 gene in children of Chinese Han. We enrolled 314 cas

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Kile, Benjamin T., Athanasia D. Panopoulos, Roslynn A. Stirzaker, et al. "Mutations in the cofilin partner Aip1/Wdr1 cause autoinflammatory disease and macrothrombocytopenia." Blood 110, no. 7 (2007): 2371–80. http://dx.doi.org/10.1182/blood-2006-10-055087.

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A pivotal mediator of actin dynamics is the protein cofilin, which promotes filament severing and depolymerization, facilitating the breakdown of existing filaments, and the enhancement of filament growth from newly created barbed ends. It does so in concert with actin interacting protein 1 (Aip1), which serves to accelerate cofilin's activity. While progress has been made in understanding its biochemical functions, the physiologic processes the cofilin/Aip1 complex regulates, particularly in higher organisms, are yet to be determined. We have generated an allelic series for WD40 repeat protei

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Choi, Jin-Tae, Yeseul Choi, Yujin Lee, et al. "The hybrid RAVE complex plays V-ATPase-dependent and -independent pathobiological roles in Cryptococcus neoformans." PLOS Pathogens 19, no. 10 (2023): e1011721. http://dx.doi.org/10.1371/journal.ppat.1011721.

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V-ATPase, which comprises 13–14 subunits, is essential for pH homeostasis in all eukaryotes, but its proper function requires a regulator to assemble its subunits. While RAVE (regulator of H+-ATPase of vacuolar and endosomal membranes) and Raboconnectin-3 complexes assemble V-ATPase subunits in Saccharomyces cerevisiae and humans, respectively, the function of the RAVE complex in fungal pathogens remains largely unknown. In this study, we identified two RAVE complex components, Rav1 and Wdr1, in the fungal meningitis pathogen Cryptococcus neoformans, and analyzed their roles. Rav1 and Wdr1 are

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Dogrusöz, Mehmet, Andrea Ruschel Trasel, Jinfeng Cao, et al. "Differential Expression of DNA Repair Genes in Prognostically-Favorable versus Unfavorable Uveal Melanoma." Cancers 11, no. 8 (2019): 1104. http://dx.doi.org/10.3390/cancers11081104.

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Expression of DNA repair genes was studied in uveal melanoma (UM) in order to identify genes that may play a role in metastases formation. We searched for genes that are differentially expressed between tumors with a favorable and unfavorable prognosis. Gene-expression profiling was performed on 64 primary UM from the Leiden University Medical Center (LUMC), Leiden, The Netherlands. The expression of 121 genes encoding proteins involved in DNA repair pathways was analyzed: a total of 44 genes differed between disomy 3 and monosomy 3 tumors. Results were validated in a cohort from Genoa and Par

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Suh, Myung Whan, Dong Hoon Shin, Ho Sun Lee, Ji Yeong Park, Chong Sun Kim, and Seung Ha Oh. "WDR1 expression in the normal and noise-damaged chick vestibule." Journal of Vestibular Research 17, no. 4 (2008): 163–70. http://dx.doi.org/10.3233/ves-2007-17402.

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Unlike mammals, avian cochlear hair cells can regenerate after acoustic overstimulation. The WDR1 gene is one of the genes suspected to play an important role in this difference. In an earlier study, we found that the WDR1 gene is over-expressed in the chick cochlea after acoustic overstimulation. The aim of this study was to compare the expression of WDR1 before and after acoustic overstimulation in the chick vestibule. Seven-day-old chicks were divided into three groups: normal group, damage group, and regeneration group. The damage and regeneration group was exposed to 120 dB SPL white nois

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Nagappa, Madhu, Parayil S. Bindu, Sanjib Sinha, et al. "Palatal Tremor Revisited: Disorder with Nosological Diversity and Etiological Heterogeneity." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 45, no. 2 (2017): 243–47. http://dx.doi.org/10.1017/cjn.2017.273.

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AbstractThis case series aimed to describe clinicoradiological, electromyographic, and etiological spectra in palatal tremor (essential=1; symptomatic=26). Patients with symptomatic palatal tremor had 2 to 10 Hz arrhythmic electromyographic bursts, a spectrum of changes in inferior olivary nucleus, with/without lesions in Guillain Mollaret triangle, and varied etiologies (genetic=9, vascular=6, trauma=3, infections=3). Exome sequencing showed variations in POLG, WDR81, NDUFS8, TENM4, and EEF2. Clinical phenotypes of patients with POLG, WDR81, and NDUFS8 variations were consistent with that des

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Standing, Ariane S. I., Dessislava Malinova, Ying Hong, et al. "Autoinflammatory periodic fever, immunodeficiency, and thrombocytopenia (PFIT) caused by mutation in actin-regulatory gene WDR1." Journal of Experimental Medicine 214, no. 1 (2016): 59–71. http://dx.doi.org/10.1084/jem.20161228.

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The importance of actin dynamics in the activation of the inflammasome is becoming increasingly apparent. IL-1β, which is activated by the inflammasome, is known to be central to the pathogenesis of many monogenic autoinflammatory diseases. However, evidence from an autoinflammatory murine model indicates that IL-18, the other cytokine triggered by inflammasome activity, is important in its own right. In this model, autoinflammation was caused by mutation in the actin regulatory gene WDR1. We report a homozygous missense mutation in WDR1 in two siblings causing periodic fevers with immunodefic

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Lee, Hye Eun, Min Kyo Jung, Seul Gi Noh, et al. "Iron Accumulation and Changes in Cellular Organelles in WDR45 Mutant Fibroblasts." International Journal of Molecular Sciences 22, no. 21 (2021): 11650. http://dx.doi.org/10.3390/ijms222111650.

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Iron overload in the brain, defined as excess stores of iron, is known to be associated with neurological disorders. In neurodegeneration accompanied by brain iron accumulation, we reported a specific point mutation, c.974-1G>A in WD Repeat Domain 45 (WDR45), showing iron accumulation in the brain, and autophagy defects in the fibroblasts. In this study, we investigated whether fibroblasts with mutated WDR45 accumulated iron, and other effects on cellular organelles. We first identified the main location of iron accumulation in the mutant fibroblasts and then investigated the effects of thi

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Chiarello, Paola, Giuseppe Seminara, Sabrina Bossio, et al. "Adult-Onset Case of Female Idiopathic Hypogonadotropic Hypogonadism and Ataxia: Genetic Background." Endocrines 5, no. 3 (2024): 334–40. http://dx.doi.org/10.3390/endocrines5030024.

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Adult-onset cases of idiopathic hypogonadotropic hypogonadism (IHH) are characterized by partial or normal puberty development until adolescence and by the impairment of the hypothalamic–pituitary–gonadal (HPG) axis in adulthood. WDR11 and DCC genes are known to be involved in axonal development, particularly of hypothalamic GnRH neurons, and ciliogenesis. We report a female case of adult-onset hypogonadism and cerebellar ataxia, in which we identified two gene mutations. A panel of 48 genes was set up to search for variants in the causative genes of CHH. The variants found were analyzed follo

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Dubner, R., D. R. Kenshalo, W. Maixner, M. C. Bushnell, and J. L. Oliveras. "The correlation of monkey medullary dorsal horn neuronal activity and the perceived intensity of noxious heat stimuli." Journal of Neurophysiology 62, no. 2 (1989): 450–57. http://dx.doi.org/10.1152/jn.1989.62.2.450.

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1. We examined the relationship between the activity of medullary dorsal horn nociceptive neurons and the monkeys' ability to detect noxious heat stimuli. In two different detection tasks, the temperature of a contact thermode positioned on the monkey's face increased from 38 degrees C to temperatures between 44 and 48 degrees C (T1). After a variable time period, the thermode temperature increased an additional 0.2-1.5 degrees C (T2), and the monkeys' detection speed from the onset of T2 was determined. We previously have established that detection speed is a measure of the perceived intensit

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Chudler, E. H., F. Anton, R. Dubner, and D. R. Kenshalo. "Responses of nociceptive SI neurons in monkeys and pain sensation in humans elicited by noxious thermal stimulation: effect of interstimulus interval." Journal of Neurophysiology 63, no. 3 (1990): 559–69. http://dx.doi.org/10.1152/jn.1990.63.3.559.

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1. Twenty-six nociceptive neurons in the primary somatosensory cortex (SI) of anesthetized monkeys were responsive to noxious thermal stimulation applied to the face. Thermode temperature increased from a base line of 38 degrees C to temperatures ranging from 44 to 49 degrees C (T1). After a period of 5 s, the temperature increased an additional 1 degree C (T2). The neuronal responses to noxious thermal stimuli were compared when the interstimulus interval (ISI) was 30 or 180 s. 2. A linear regression analysis was applied to the stimulus-response functions of neuronal responses to T1 stimuli o

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Kuhns, Douglas B., Danielle L. Fink, Uimook Choi, et al. "Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency." Blood 128, no. 17 (2016): 2135–43. http://dx.doi.org/10.1182/blood-2016-03-706028.

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HE, CONGCONG. "265-OR: Exercise-Induced Lactylation of WDR41 Initiates Autophagy and Improves MASLD." Diabetes 74, Supplement_1 (2025). https://doi.org/10.2337/db25-265-or.

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Introduction and Objective: A sedentary lifestyle is associated with diabetes and MASLD (metabolic dysfunction-associated steatotic liver disease), but the causal mechanisms and preventive methods are not fully understood. Autophagy is a lysosomal degradation pathway robustly induced by physical exercise. This study is to determine how exercise activates autophagy systemically, and whether exercise-induced autophagy regulates hepatic glucose and lipid metabolism and plays a preventative role against MASLD. Methods: Animal exercise was carried out using a mouse treadmill. WDR41-depleted cells a

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Amick, Joseph, Arun Kumar Tharkeshwar, Gabriel Talaia, and Shawn M. Ferguson. "PQLC2 recruits the C9orf72 complex to lysosomes in response to cationic amino acid starvation." Journal of Cell Biology 219, no. 1 (2019). http://dx.doi.org/10.1083/jcb.201906076.

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The C9orf72 protein is required for normal lysosome function. In support of such functions, C9orf72 forms a heterotrimeric complex with SMCR8 and WDR41 that is recruited to lysosomes when amino acids are scarce. These properties raise questions about the identity of the lysosomal binding partner of the C9orf72 complex and the amino acid–sensing mechanism that regulates C9orf72 complex abundance on lysosomes. We now demonstrate that an interaction with the lysosomal cationic amino acid transporter PQLC2 mediates C9orf72 complex recruitment to lysosomes. This is achieved through an interaction b

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Su, Ming-Yuan, Simon A. Fromm, Jonathan Remis, Daniel B. Toso, and James H. Hurley. "Structural basis for the ARF GAP activity and specificity of the C9orf72 complex." Nature Communications 12, no. 1 (2021). http://dx.doi.org/10.1038/s41467-021-24081-0.

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AbstractMutation of C9ORF72 is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontal temporal degeneration (FTD), which is attributed to both a gain and loss of function. C9orf72 forms a complex with SMCR8 and WDR41, which was reported to have GTPase activating protein activity toward ARF proteins, RAB8A, and RAB11A. We determined the cryo-EM structure of ARF1-GDP-BeF3- bound to C9orf72:SMCR8:WDR41. The SMCR8longin and C9orf72longin domains form the binding pocket for ARF1. One face of the C9orf72longin domain holds ARF1 in place, while the SMCR8longin positions the

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Azimian, Fereshteh, Yan‐Hua Chen, and Qun Lu. "Targeting the Interactions of Small GTPase ARF with C9ORF72:SMCR8:WDR41 Complexes Implicated in Amyotrophic Lateral Sclerosis/Frontotemporal Dementia." Alzheimer's & Dementia 19, S21 (2023). http://dx.doi.org/10.1002/alz.076804.

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AbstractBackgroundC9ORF72 plays important roles in many cellular processes, including autophagy, membrane trafficking and immune response. The C9ORF72 mutation is the most common cause of familial amyotrophic lateral sclerosis/frontotemporal dementia (ALS/FTD) which is attributed to both gain‐ and loss‐of‐function mechanisms. C9ORF72 forms a complex with SMCR8 and WDR41, which was reported to regulate signaling of small GTPases such as Rab and ARF proteins. Developing small molecules that modulate interfacial C9ORF72:SMCR8:WDR41 (CSW) and small GTPase interactions will aid in understanding the

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