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https://www.readbyqxmd.com/read/28323226/herc1-mutations-in-idiopathic-intellectual-disability
#1
G Eda Utine, Ekim Z Taşkıran, Can Koşukcu, Beren Karaosmanoğlu, Naz Güleray, Özlem Akgün Doğan, P Özlem Şimşek Kiper, Koray Boduroğlu, Mehmet Alikaşifoğlu
HERC1 is a member of HERC protein family of ubiquitin ligases and is a negative regulator of the mTOR pathway. It is also a guanine nucleotide exchange factor for ARF and Rab family GTPases. Biallelic mutations in HERC1 were recently shown to cause a human phenotype with overgrowth and intellectual disability as main features. Herein we describe clinical features in another patient with homozygous novel mutation in HERC1. Moderate to severe intellectual disability, hypotonia, macrocephaly, tall stature, and facial features appear as main clinical features of the condition...
March 16, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28294115/phosphorylation-of-rab-coupling-protein-by-lmtk3-controls-rab14-dependent-epha2-trafficking-to-promote-cell-cell-repulsion
#2
Christine Gundry, Sergi Marco, Elena Rainero, Bryan Miller, Emmanuel Dornier, Louise Mitchell, Patrick T Caswell, Andrew D Campbell, Anna Hogeweg, Owen J Sansom, Jennifer P Morton, Jim C Norman
The Rab GTPase effector, Rab-coupling protein (RCP) is known to promote invasive behaviour in vitro by controlling integrin and receptor tyrosine kinase (RTK) trafficking, but how RCP influences metastasis in vivo is unclear. Here we identify an RTK of the Eph family, EphA2, to be a cargo of an RCP-regulated endocytic pathway which controls cell:cell repulsion and metastasis in vivo. Phosphorylation of RCP at Ser(435) by Lemur tyrosine kinase-3 (LMTK3) and of EphA2 at Ser(897) by Akt are both necessary to promote Rab14-dependent (and Rab11-independent) trafficking of EphA2 which generates cell:cell repulsion events that drive tumour cells apart...
March 15, 2017: Nature Communications
https://www.readbyqxmd.com/read/28292916/rab-gtpases-master-regulators-that-establish-the-secretory-and-endocytic-pathways
#3
Suzanne R Pfeffer
Several of the most important discoveries in the field of membrane traffic have come from studies of Rab GTPases by Marino Zerial and Peter Novick and their colleagues. Zerial was the first to discover that Rab GTPases represent identity markers for different membrane-bound compartments, and each Rab organizes a collection of specific effectors into function-specifying membrane microdomains to carry out receptor trafficking. Novick discovered that the order (and thus polarity) of Rab GTPases along the secretory and endocytic pathways are established by their specific, cognate guanine nucleotide exchange factors (GEFs) and GTPase-activating proteins (GAPs), which partner with one Rab to regulate the subsequent- and prior-acting Rabs...
March 15, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28292708/dioscorea-alata-tuber-proteome-analysis-shows-over-thirty-dioscorin-isoforms-and-novel-tuber-proteins
#4
Shruti Sharma, Ravi Gupta, Renu Deswal
In Dioscorea, dioscorin (31 kDa) is the major storage protein constituting 85% of the total tuber proteins. An integrated proteomic and biochemical approach was used to understand the physiological role of dioscorin in the two contrasting growth stages (germinating and mature tuber). HPLC analysis showed 3 fold reduction in mannitol and 12.88 and 1.24 fold increase in sucrose and maltose in the germinating tuber. A 1.8 and 3 fold increase in sucrose phosphate synthase and mannitol dehydrogenase activity respectively was observed in the germinating tuber while a 2 fold higher invertase probably lowers the sucrose accumulation in the mature tuber...
March 6, 2017: Plant Physiology and Biochemistry: PPB
https://www.readbyqxmd.com/read/28290617/digital-expression-analysis-of-the-genes-associated-with-salinity-resistance-after-overexpression-of-a-stress-responsive-small-gtp-binding-rabg-protein-in-peanut
#5
J M Sui, G Li, G X Chen, M Y Yu, S T Ding, J S Wang, L X Qiao
The Rab protein family is the largest family of the small GTP-binding proteins. Among them, the RabG genes are known to be responsive to abiotic stresses, but the molecular mechanisms of the stress responses mediated by RabG genes in plants is poorly understood. To investigate the molecular mechanism of AhRabG gene in peanut, transgenic plants overexpressing the AhRabG gene (S6) with relatively higher salinity resistance than the non-transgenic plants (S7) were obtained. Digital gene expression (DGE) sequencing was performed with the leaves of S6 and S7 plants before and after salinity-stress treatment...
March 8, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28285997/ccm-3-promotes-c-%C3%A2-elegans-germline-development-by-regulating-vesicle-trafficking-cytokinesis-and-polarity
#6
Swati Pal, Benjamin Lant, Bin Yu, Ruilin Tian, Jiefei Tong, Jonathan R Krieger, Michael F Moran, Anne-Claude Gingras, W Brent Derry
Cerebral cavernous malformations (CCMs) are vascular defects of the CNS that arise from loss of integrity of the endothelial cells lining blood capillaries, causing leakage of blood into the brain [1]. This results in headaches, seizures, and/or hemorrhagic stroke, depending on the location of the lesion. CCM affects 0.5% of the population and follows an autosomal dominant inheritance pattern caused by mutations in one of the three genes: CCM1 (gene name KRIT1), CCM2 (also known as malcavernin or OSM), and CCM3 (gene name PDCD10) [2, 3], with the earliest onset and most severe prognosis occurring in CCM3 patients [4]...
March 20, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28283980/alleviating-the-environmental-heat-burden-on-laying-hens-by-feeding-on-diets-enriched-with-certain-antioxidants-vitamin-e-and-selenium-individually-or-combined
#7
Mohamed E Abd El-Hack, Khalid Mahrose, Muhammad Arif, Maria Tabassum Chaudhry, Islam M Saadeldin, Muhammad Saeed, Rab Nawaz Soomro, Imtiaz Hussain Raja Abbasi, Zaib Ur Rehman
The present study was designed to alleviate the negative biohazards of high ambient temperature on the productive performance and physiological status of laying hens. A total of 135 Bovans laying hens were distributed into nine groups in a 3 × 3 factorial design experiment. Basal diet was supplemented with vitamin E at levels of 0, 250, and 500 mg /kg diet. Within each dietary vitamin E level, each diet was supplemented with sodium selenite as a source of selenium (Se) to supply 0, 0.25, and 0.50 mg Se/kg diet...
March 11, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28281975/knockdown-of-ras-related-protein-25-rab25-inhibits-the-in-vitro-cytotoxicity-and-in-vivo-antitumor-activity-of-human-glioblastoma-multiforme-cells
#8
Bingqian Ding, Bei Cui, Ming Gao, Zhenjiang Li, Chenyang Xu, Shaokang Fan, Weiya He
Ras-related protein 25 (Rab25) is a member of the Rab family, and it has been reported to play an important role in tumorigenesis. However, its direct involvement in human glioblastoma multiforme (GBM) is still unclear. The aim of the current study was to investigate the potential role of Rab25 in the growth, proliferation, invasion, and migration of human GBM. Our results showed that Rab25 expression was significantly higher in human GBM cell lines compared with a normal astrocyte cell line. In vitro functional studies revealed that knockdown of Rab25 reduced cell proliferation and inhibited invasion and migration of GBM cells...
March 13, 2017: Oncology Research
https://www.readbyqxmd.com/read/28277196/downregulation-of-rab23-in-prostate-cancer-inhibits-tumor-growth-in-vitro-and-in-vivo
#9
Junkai Chang, Weibo Xu, Guangchao Liu, Xinyi Du, Xiaodong Li
Rab23, a novel member of the Rab GTPase family, was found to be implicated in the progression of some human cancers. However, what role Rab23 plays in prostate cancer (PCa) remains to be illustrated. In the present study, we investigated the expression pattern and roles of Rab23 in PCa. The study results showed that Rab23 was upregulated in PCa tissues and cell lines. Moreover, downregulation of Rab23 remarkably suppressed the proliferation, migration, and invasion of PCa cells. In addition, downregulation of Rab23 significantly downregulated the protein expression levels of Shh and Gli1...
January 26, 2017: Oncology Research
https://www.readbyqxmd.com/read/28271586/single-base-substitutions-in-the-chm-promoter-as-a-cause-of-choroideremia
#10
Alina Radziwon, Gavin Arno, Dianna Wheaton, Ellen M McDonagh, Emma L Baple, Kaylie Webb-Jones, David Birch, Andrew R Webster, Ian M MacDonald
Although over 150 unique mutations affecting the coding sequence of CHM have been identified in patients with the X-linked chorioretinal disease choroideremia (CHM), no regulatory mutations have been reported, and indeed the promoter has not been defined. Here we describe two independent families affected by CHM bearing a mutation outside the gene's coding region at position c.-98: C>A and C>T, which segregated with the disease. The male proband of family 1 was found to lack CHM mRNA and its gene product Rab escort protein 1 (REP-1), while whole genome sequencing of an affected male in family 2 excluded the involvement of any other known retinal genes...
March 8, 2017: Human Mutation
https://www.readbyqxmd.com/read/28266105/c9orf72-at-the-intersection-of-lysosome-cell-biology-and-neurodegenerative-disease
#11
REVIEW
Joseph Amick, Shawn M Ferguson
The discovery that expansion of a hexanucleotide repeat within a non-coding region of the C9orf72 gene causes amyotrophic lateral sclerosis and frontotemporal dementia raised questions about C9orf72 protein function and potential disease relevance. The major predicted structural feature of the C9orf72 protein is a DENN domain. As DENN domains are best characterized for regulation of specific Rab GTPases, it has been proposed that C9orf72 may also act through regulation of a GTPase target. Recent genetic and cell biological studies furthermore indicate that the C9orf72 protein functions at lysosomes as part of a larger complex that also contains the Smith-Magenis Chromosome Region 8 (SMCR8) and WD repeat-containing protein 41 (WDR41) proteins...
March 7, 2017: Traffic
https://www.readbyqxmd.com/read/28265301/assessing-histone-demethylase-inhibitors-in-cells-lessons-learned
#12
Stephanie B Hatch, Clarence Yapp, Raquel C Montenegro, Pavel Savitsky, Vicki Gamble, Anthony Tumber, Gian Filippo Ruda, Vassilios Bavetsias, Oleg Fedorov, Butrus Atrash, Florence Raynaud, Rachel Lanigan, LeAnne Carmichael, Kathy Tomlin, Rosemary Burke, Susan M Westaway, Jack A Brown, Rab K Prinjha, Elisabeth D Martinez, Udo Oppermann, Christopher J Schofield, Chas Bountra, Akane Kawamura, Julian Blagg, Paul E Brennan, Olivia Rossanese, Susanne Müller
BACKGROUND: Histone lysine demethylases (KDMs) are of interest as drug targets due to their regulatory roles in chromatin organization and their tight associations with diseases including cancer and mental disorders. The first KDM inhibitors for KDM1 have entered clinical trials, and efforts are ongoing to develop potent, selective and cell-active 'probe' molecules for this target class. Robust cellular assays to assess the specific engagement of KDM inhibitors in cells as well as their cellular selectivity are a prerequisite for the development of high-quality inhibitors...
2017: Epigenetics & Chromatin
https://www.readbyqxmd.com/read/28264927/missing-in-metastasis-protein-downregulates-cxcr4-by-promoting-ubiquitination-and-interaction-with-small-rab-gtpases
#13
Lushen Li, Shaneen S Baxter, Ning Gu, Min Ji, Xi Zhan
Surface expression of chemokine receptor CXCR4 is downregulated by MIM, a member of the inverse BAR (I-BAR) domain protein family that recognizes and generates membranes with negative curvatures. Yet, the mechanism for the regulation is unknown. Here, we showed that MIM formed a complex with CXCR4 via binding to E3 ubiquitin ligase AIP4 in response to SDF-1. Overexpression of MIM promoted CXCR4 ubiquitination, inhibited cellular response to SDF-1, caused accumulation and aggregation of MVBs in the cytoplasm, and promoted CXCR4 sorting into MVBs in a manner depending on binding to AIP4...
March 6, 2017: Journal of Cell Science
https://www.readbyqxmd.com/read/28264817/regulation-of-cell-polarity-by-exocyst-mediated-trafficking
#14
Noemi Polgar, Ben Fogelgren
One requirement for establishing polarity within a cell is the asymmetric trafficking of intracellular vesicles to the plasma membrane. This tightly regulated process creates spatial and temporal differences in both plasma membrane composition and the membrane-associated proteome. Asymmetric membrane trafficking is also a critical mechanism to regulate cell differentiation, signaling, and physiology. Many eukaryotic cell types use the eight-protein exocyst complex to orchestrate polarized vesicle trafficking to certain membrane locales...
March 6, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28253860/molecular-cytogenetic-differentiation-of-paralogs-of-hox-paralogs-in-duplicated-and-re-diploidized-genome-of-the-north-american-paddlefish-polyodon-spathula
#15
Radka Symonová, Miloš Havelka, Chris T Amemiya, William Mike Howell, Tereza Kořínková, Martin Flajšhans, David Gela, Petr Ráb
BACKGROUND: Acipenseriformes is a basal lineage of ray-finned fishes and comprise 27 extant species of sturgeons and paddlefishes. They are characterized by several specific genomic features as broad ploidy variation, high chromosome numbers, presence of numerous microchromosomes and propensity to interspecific hybridization. The presumed palaeotetraploidy of the American paddlefish was recently validated by molecular phylogeny and Hox genes analyses. A whole genome duplication in the paddlefish lineage was estimated at approximately 42 Mya and was found to be independent from several genome duplications evidenced in its sister lineage, i...
March 2, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28251922/early-stages-of-functional-diversification-in-the-rab-gtpase-gene-family-revealed-by-genomic-and-localization-studies-in-paramecium-species
#16
Lydia J Bright, Jean-Francois Gout, Michael Lynch
New gene functions arise within existing gene families as a result of gene duplication and subsequent diversification. To gain insight into the steps that lead to the functional diversification of paralogs, we tracked duplicate retention patterns, expression-level divergence, and subcellular markers of functional diversification in the Rab GTPase gene family in three Paramecium aurelia species. Following whole genome duplication, Rab GTPase duplicates are more highly retained than other genes in the genome, but appear to be diverging more rapidly in expression levels, consistent with early steps in functional diversification...
March 1, 2017: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/28249939/regulation-of-dennd3-the-exchange-factor-for-the-small-gtpase-rab12-through-an-intramolecular-interaction
#17
Jie Xu, Peter S McPherson
The Rab family of small GTPases function in multiple aspects of cellular membrane trafficking. Proteins bearing a DENN (differentially expressed in normal and neoplastic cells) domain have emerged as the largest family of Rab-activating guanine nucleotide exchange factors (GEFs). Rab12 functions in the initiation of starvation-induced autophagy and our previous work revealed that its activator, DENND3 is phosphorylated and activated upon starvation. However, how the GEF activity of DENND3 towards Rab12 is regulated at the molecular level is still not understood...
March 1, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28245147/impact-of-a-new-palliative-care-program-on-health-system-finances-an-analysis-of-the-palliative-care-program-inpatient-unit-and-consultations-at-johns-hopkins-medical-institutions
#18
Sarina R Isenberg, Chunhua Lu, John McQuade, Kelvin K W Chan, Natasha Gill, Michael Cardamone, Deirdre Torto, Terry Langbaum, Rab Razzak, Thomas J Smith
PURPOSE: Palliative care inpatient units (PCUs) can improve symptoms, family perception of care, and lower per-diem costs compared with usual care. In March 2013, Johns Hopkins Medical Institutions (JHMI) added a PCU to the palliative care (PC) program. We studied the financial impact of the PC program on JHMI from March 2013 to March 2014. METHODS: This study considered three components of the PC program: PCU, PC consultations, and professional fees. Using 13 months of admissions data, the team calculated the per-day variable cost pre-PCU (ie, in another hospital unit) and after transfer to the PCU...
February 28, 2017: Journal of Oncology Practice
https://www.readbyqxmd.com/read/28243729/expression-of-rab5a-correlates-with-tumor-progression-in-pancreatic-carcinoma
#19
Yuandong Li, Xiaofang Sun, Donghui Ji, Xiangshun Kong, Dengxiang Liu, Zhenya Zhao, Jingbo Yan, Shubo Chen
Rab family protein Rab5a has been implicated in cancer progression. To date, its expression pattern in human pancreatic cancer has not been investigated. This study aims to examine clinical significance, biological role, and potential mechanism of action of mRab5a in human pancreatic cancer. We analyzed Rab5a protein in cancer tissue of 111 cases of pancreatic cancer using immunohistochemistry. The results show that Rab5a overexpression correlates with high T stage, positive nodal status, and advanced TNM stage...
February 27, 2017: Virchows Archiv: An International Journal of Pathology
https://www.readbyqxmd.com/read/28242757/acute-acinar-pancreatitis-blocks-vesicle-associated-membrane-protein-8-vamp8-dependent-secretion-resulting-in-intracellular-trypsin-accumulation
#20
Scott W Messenger, Elaina K Jones, Conner L Holthaus, Diana D H Thomas, Michelle M Cooley, Jennifer A Byrne, Olga A Mareninova, Anna S Gukovskaya, Guy E Groblewski
Zymogen secretory granules in pancreatic acinar cells express two vesicle associated membrane proteins (VAMP), VAMP2 and 8, each controlling 50% of stimulated secretion. Analysis of secretion kinetics identified a first-phase (0 - 2 min) mediated by VAMP2, and second- (2 - 10 min) and third-phases (10- 30 min) mediated by VAMP8. Induction of acinar pancreatitis by supramaximal cholecystokinin (CCK-8) stimulation inhibits VAMP8-mediated second- and third-phase, but not VAMP2-mediated first-phase secretion. Elevation of cAMP during supramaximal CCK-8 mitigates third-phase secretory inhibition and acinar damage caused by the accumulation of prematurely activated trypsin...
February 27, 2017: Journal of Biological Chemistry
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