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LAL deficiency

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https://www.readbyqxmd.com/read/28504497/liver-disease-and-dyslipidemia-as-a-manifestation-of-lysosomal-acid-lipase-deficiency-lal-d-clinical-and-diagnostic-aspects-and-a-new-treatment-an-update
#1
Luisa Bay, Cristina Canero Velasco, Mirta Ciocca, Andrea Cotti, Miriam Cuarterolo, Alejandro Fainboim, Eduardo Fassio, Marcela Galoppo, Federico Pinero, Paula Rozenfeld
Lysosomal acid lipase deficiency (LAL-D) is still a little recognized genetic disease with significant morbidity and mortality in children and adults. This document provides guidance on when to suspect LAL-D and how to diagnose it. It is recommended to add lysosomal acid lipase deficiency to the List of differential diagnoses of sepsis, oncological diseases, storage diseases, persistent diarrhea, chronic malnutrition, and hemophagocytic lymphohistiocytosis. It should also be considered in young patients with dyslipidemia and atherosclerosis as well as diseases associated with fatty liver and/or hepatomegaly...
June 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28502515/lysosomal-acid-lipase-deficiency-in-all-siblings-of-the-same-parents
#2
James J Maciejko, Premchand Anne, Saleem Raza, Hernando J Lyons
We present 4 normal-weight sibling children with lysosomal acid lipase deficiency (LAL-D). LAL-D was considered in the differential diagnosis based on the absence of secondary causes and primary inherited traits for their marked hyperlipidemia, together with unexplained hepatic transaminase elevation. Residual lysosomal acid lipase activity confirmed the diagnosis. DNA sequencing of LIPA indicated that the siblings were compound heterozygotes (c.894G>A and c.428+1G>A). This case describes the unusual occurrence of all offspring from the same nonconsanguineous mother and father inheriting compound heterozygosity of a recessive trait and the identification of an apparently unique LIPA mutation (c...
March 2017: Journal of Clinical Lipidology
https://www.readbyqxmd.com/read/28487390/activation-of-the-amino-acid-response-pathway-blunts-the-effects-of-cardiac-stress
#3
Pu Qin, Pelin Arabacilar, Roberta E Bernard, Weike Bao, Alan R Olzinski, Yuanjun Guo, Hind Lal, Stephen H Eisennagel, Michael C Platchek, Wensheng Xie, Julius Del Rosario, Mohamad Nayal, Quinn Lu, Theresa Roethke, Christine G Schnackenberg, Fe Wright, Michael P Quaile, Wendy S Halsey, Ashley M Hughes, Ganesh M Sathe, George P Livi, Robert B Kirkpatrick, Xiaoyan A Qu, Deepak K Rajpal, Maria Faelth Savitski, Marcus Bantscheff, Gerard Joberty, Giovanna Bergamini, Thomas L Force, Gregory J Gatto, Erding Hu, Robert N Willette
BACKGROUND: The amino acid response (AAR) is an evolutionarily conserved protective mechanism activated by amino acid deficiency through a key kinase, general control nonderepressible 2. In addition to mobilizing amino acids, the AAR broadly affects gene and protein expression in a variety of pathways and elicits antifibrotic, autophagic, and anti-inflammatory activities. However, little is known regarding its role in cardiac stress. Our aim was to investigate the effects of halofuginone, a prolyl-tRNA synthetase inhibitor, on the AAR pathway in cardiac fibroblasts, cardiomyocytes, and in mouse models of cardiac stress and failure...
May 9, 2017: Journal of the American Heart Association
https://www.readbyqxmd.com/read/28472507/a-case-report-of-hypoglycemia-and-hypogammaglobulinemia-david-syndrome-in-a-patient-with-a-novel-nfkb2-mutation
#4
Rayhan A Lal, Laura K Bachrach, Andrew R Hoffman, Jingga Inlora, Shannon Rego, Michael P Snyder, David B Lewis
Context: DAVID syndrome (Deficient Anterior pituitary with Variable Immune Deficiency) is a rare disorder in which children present with symptomatic ACTH deficiency preceded by hypogammaglobulinemia from B-cell dysfunction with recurrent infections, termed common variable immunodeficiency (CVID). Subsequent whole exome sequencing studies have revealed germline heterozygous C-terminal mutations of NFKB2 as either a cause of DAVID syndrome or of CVID without clinical hypopituitarism. However, to the best of our knowledge there have been no cases in which the endocrinopathy has presented in the absence of a prior clinical history of CVID...
May 3, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28464890/comparison-of-the-capacity-between-public-and-private-health-facilities-to-manage-under-five-children-with-febrile-illnesses-in-uganda
#5
Esther Buregyeya, Elizeus Rutebemberwa, Phillip LaRussa, Sham Lal, Sîan E Clarke, Kristian S Hansen, Pascal Magnussen, Anthony K Mbonye
BACKGROUND: Public health facilities are usually the first to receive interventions compared to private facilities, yet majority of health seeking care is first done with the latter. This study compared the capacity to manage acute febrile illnesses in children below 5 years in private vs public health facilities in order to design interventions to improve quality of care. METHODS: A survey was conducted within 57 geographical areas (parishes), from August to October 2014 in Mukono district, central Uganda...
May 2, 2017: Malaria Journal
https://www.readbyqxmd.com/read/28415797/rab7-gtpase-controls-lipid-metabolic-signaling-in-myeloid-derived-suppressor-cells
#6
Xinchun Ding, Wenjing Zhang, Ting Zhao, Cong Yan, Hong Du
Lysosomal acid lipase (LAL) is a critical neutral lipid metabolic enzyme that regulates metabolic reprogramming in myeloid-derived suppressor cells (MDSCs) through over-activation of mammalian target of rapamycin (mTOR). Affymetrix GeneChip microarray analysis of MDSCs from LAL deficient mouse (lal-/-) revealed upregulation of Rab7 GTPase protein, which belongs to a superfamily of small-molecular-weight GTPase known to regulate intracellular membrane trafficking from early to late endosomes and lysosomes. Here, the physical protein-protein interaction between Rab7 GTPase and mTOR has been detected by co-immunoprecipitation in the cell extract of wild type HD1A and lal-/- MDSC-like HD1B myeloid cell lines...
May 2, 2017: Oncotarget
https://www.readbyqxmd.com/read/28402950/lysosomal-lipid-hydrolysis-provides-substrates-for-lipid-mediator-synthesis-in-murine-macrophages
#7
Stefanie Schlager, Nemanja Vujic, Melanie Korbelius, Madalina Duta-Mare, Juliane Dorow, Christina Leopold, Silvia Rainer, Martin Wegscheider, Helga Reicher, Uta Ceglarek, Wolfgang Sattler, Branislav Radovic, Dagmar Kratky
Degradation of lysosomal lipids requires lysosomal acid lipase (LAL), the only intracellular lipase known to be active at acidic pH. We found LAL to be expressed in murine immune cells with highest mRNA expression in macrophages and neutrophils. Furthermore, we observed that loss of LAL in mice caused lipid accumulation in white blood cells in the peripheral circulation, which increased in response to an acute inflammatory stimulus. Lal-deficient (-/-) macrophages accumulate neutral lipids, mainly cholesteryl esters, within lysosomes...
March 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/28401034/targeting-wolman-disease-and-cholesteryl-ester-storage-disease-disease-pathogenesis-and-therapeutic-development
#8
REVIEW
Francis Aguisanda, Natasha Thorne, Wei Zheng
Wolman disease (WD) and cholesteryl ester storage disease (CESD) are lysosomal storage diseases (LSDs) caused by a deficiency in lysosomal acid lipase (LAL) due to mutations in the LIPA gene. This enzyme is critical to the proper degradation of cholesterol in the lysosome. LAL function is completely lost in WD while some residual activity remains in CESD. Both are rare diseases with an incidence rate of less than 1/100,000 births for WD and approximate 2.5/100,000 births for CESD. Clinical manifestation of WD includes hepatosplenomegaly, calcified adrenal glands, severe malabsorption and a failure to thrive...
2017: Current Chemical Genomics and Translational Medicine
https://www.readbyqxmd.com/read/28384795/child-and-adolescent-health-from-1990-to-2015-findings-from-the-global-burden-of-diseases-injuries-and-risk-factors-2015-study
#9
Nicholas Kassebaum, Hmwe Hmwe Kyu, Leo Zoeckler, Helen Elizabeth Olsen, Katie Thomas, Christine Pinho, Zulfiqar A Bhutta, Lalit Dandona, Alize Ferrari, Tsegaye Tewelde Ghiwot, Simon I Hay, Yohannes Kinfu, Xiaofeng Liang, Alan Lopez, Deborah Carvalho Malta, Ali H Mokdad, Mohsen Naghavi, George C Patton, Joshua Salomon, Benn Sartorius, Roman Topor-Madry, Stein Emil Vollset, Andrea Werdecker, Harvey A Whiteford, Kalkidan Hasen Abate, Kaja Abbas, Solomon Abreha Damtew, Muktar Beshir Ahmed, Nadia Akseer, Rajaa Al-Raddadi, Mulubirhan Assefa Alemayohu, Khalid Altirkawi, Amanuel Alemu Abajobir, Azmeraw T Amare, Carl A T Antonio, Johan Arnlov, Al Artaman, Hamid Asayesh, Euripide Frinel G Arthur Avokpaho, Ashish Awasthi, Beatriz Paulina Ayala Quintanilla, Umar Bacha, Dimtsu Balem, Aleksandra Barac, Till Winfried Bärnighausen, Estifanos Baye, Neeraj Bedi, Isabela M Bensenor, Adugnaw Berhane, Eduardo Bernabe, Oscar Alberto Bernal, Addisu Shunu Beyene, Sibhatu Biadgilign, Boris Bikbov, Cheryl Anne Boyce, Alexandra Brazinova, Gessessew Bugssa Hailu, Austin Carter, Carlos A Castañeda-Orjuela, Ferrán Catalá-López, Fiona J Charlson, Abdulaal A Chitheer, Jee-Young Jasmine Choi, Liliana G Ciobanu, John Crump, Rakhi Dandona, Robert P Dellavalle, Amare Deribew, Gabrielle deVeber, Daniel Dicker, Balem Balm Betsu, Eric L Ding, Manisha Dubey, Amanuel Yesuf Endries, Holly E Erskine, Emerito Jose Aquino Faraon, Andre Faro, Farshad Farzadfar, Joao C Fernandes, Daniel Obadare Fijabi, Christina Fitzmaurice, Thomas D Fleming, Luisa Sorio Flor, Kyle J Foreman, Richard C Franklin, Maya S Fraser, Joseph J Frostad, Nancy Fullman, Gebremedhin Berhe Gebregergs, Alemseged Aregay Gebru, Johanna M Geleijnse, Katherine B Gibney, Mahari Gidey Yihdego, Ibrahim Abdelmageem Mohamed Ginawi, Melkamu Dedefo Gishu, Tessema Assefa Gizachew, Elizabeth Glaser, Audra L Gold, Ellen Goldberg, Philimon Gona, Atsushi Goto, Harish Chander Gugnani, Guohong Jiang, Rajeev Gupta, Fisaha Haile Tesfay, Graeme J Hankey, Rasmus Havmoeller, Martha Hijar, Masako Horino, H Dean Hosgood, Guoqing Hu, Kathryn H Jacobsen, Mihajlo B Jakovljevic, Sudha P Jayaraman, Vivekanand Jha, Tariku Jibat, Catherine O Johnson, Jost Jonas, Amir Kasaeian, Norito Kawakami, Peter N Keiyoro, Ibrahim Khalil, Young-Ho Khang, Jagdish Khubchandani, Aliasghar A Ahmad Kiadaliri, Christian Kieling, Daniel Kim, Niranjan Kissoon, Luke D Knibbs, Ai Koyanagi, Kristopher J Krohn, Barthelemy Kuate Defo, Burcu Kucuk Bicer, Rachel Kulikoff, G Anil Kumar, Dharmesh Kumar Lal, Hilton Y Lam, Heidi J Larson, Anders Larsson, Dennis Odai Laryea, Janni Leung, Stephen S Lim, Loon-Tzian Lo, Warren D Lo, Katharine J Looker, Paulo A Lotufo, Hassan Magdy Abd, El Razek, Reza Malekzadeh, Desalegn Markos Shifti, Mohsen Mazidi, Peter A Meaney, Kidanu Gebremariam Meles, Peter Memiah, Walter Mendoza, Mubarek Abera Mengistie, Gebremichael Welday Mengistu, George A Mensah, Ted R Miller, Charles Mock, Alireza Mohammadi, Shafiu Mohammed, Lorenzo Monasta, Ulrich Mueller, Chie Nagata, Aliya Naheed, Grant Nguyen, Quyen Le Nguyen, Elaine Nsoesie, In-Hwan Oh, Anselm Okoro, Jacob Olusegun Olusanya, Bolajoko O Olusanya, Alberto Ortiz, Deepak Paudel, David M Pereira, Norberto Perico, Max Petzold, Michael Robert Phillips, Guilherme V Polanczyk, Farshad Pourmalek, Mostafa Qorbani, Anwar Rafay, Vafa Rahimi-Movaghar, Mahfuzar Rahman, Rajesh Kumar Rai, Usha Ram, Zane Rankin, Giuseppe Remuzzi, Andre M N Renzaho, Hirbo Shore Roba, David Rojas-Rueda, Luca Ronfani, Rajesh Sagar, Juan Ramon Sanabria, Muktar Sano Kedir Mohammed, Itamar S Santos, Maheswar Satpathy, Monika Sawhney, Ben Schöttker, David C Schwebel, James G Scott, Sadaf G Sepanlou, Amira Shaheen, Masood Ali Shaikh, June She, Rahman Shiri, Ivy Shiue, Inga Dora Sigfusdottir, Jasvinder Singh, Naris Slipakit, Alison Smith, Chandrashekhar Sreeramareddy, Jeffrey D Stanaway, Dan J Stein, Caitlyn Steiner, Muawiyyah Babale Sufiyan, Soumya Swaminathan, Rafael Tabarés-Seisdedos, Karen M Tabb, Fentaw Tadese, Mohammad Tavakkoli, Bineyam Taye, Stephanie Teeple, Teketo Kassaw Tegegne, Girma Temam Shifa, Adbullah Sulieman Terkawi, Bernadette Thomas, Alan J Thomson, Ruoyan Tobe-Gai, Marcello Tonelli, Bach Xuan Tran, Christopher Troeger, Kingsley N Ukwaja, Olalekan Uthman, Tommi Vasankari, Narayanaswamy Venketasubramanian, Vasiliy Victorovich Vlassov, Elisabete Weiderpass, Robert Weintraub, Solomon Weldemariam Gebrehiwot, Ronny Westerman, Hywel C Williams, Charles D A Wolfe, Rachel Woodbrook, Yuichiro Yano, Naohiro Yonemoto, Seok-Jun Yoon, Mustafa Z Younis, Chuanhua Yu, Maysaa El Sayed Zaki, Elias Asfaw Zegeye, Liesl Joanna Zuhlke, Christopher J L Murray, Theo Vos
Importance: Comprehensive and timely monitoring of disease burden in all age groups, including children and adolescents, is essential for improving population health. Objective: To quantify and describe levels and trends of mortality and nonfatal health outcomes among children and adolescents from 1990 to 2015 to provide a framework for policy discussion. Evidence Review: Cause-specific mortality and nonfatal health outcomes were analyzed for 195 countries and territories by age group, sex, and year from 1990 to 2015 using standardized approaches for data processing and statistical modeling, with subsequent analysis of the findings to describe levels and trends across geography and time among children and adolescents 19 years or younger...
April 3, 2017: JAMA Pediatrics
https://www.readbyqxmd.com/read/28322747/quantitation-of-the-rates-of-hepatic-and-intestinal-cholesterol-synthesis-in-lysosomal-acid-lipase-deficient-mice-before-and-during-treatment-with-ezetimibe
#10
Jen-Chieh Chuang, Adam M Lopez, Stephen D Turley
Esterified cholesterol (EC) and triglycerides, contained within lipoproteins taken up by cells, are hydrolysed by lysosomal acid lipase (LAL) in the late endosomal/lysosomal (E/L) compartment. The resulting unesterified cholesterol (UC) is transported via Niemann-Pick type C2 and C1 into the cytosolic compartment where it enters a putative pool of metabolically active cholesterol that is utilized in accordance with cellular needs. Loss-of-function mutations in LIPA, the gene encoding LAL, result in dramatic increases in tissue concentrations of EC, a hallmark feature of Wolman disease and cholesteryl ester storage disease (CESD)...
March 18, 2017: Biochemical Pharmacology
https://www.readbyqxmd.com/read/28320214/progression-of-liver-disease-in-children-and-adults-with-lysosomal-acid-lipase-deficiency
#11
Barbara K Burton, Nancy Silliman, Sachin Marulkar
BACKGROUND AND OBJECTIVE: Manifestations of the autosomal recessive disorder lysosomal acid lipase deficiency (LAL-D) include hepatomegaly, elevated serum liver enzymes, and progressive liver disease. We report an analysis of time to progression from first clinical manifestation to first documentation of hepatic fibrosis, cirrhosis, or liver transplantation from an observational study of pediatric and adult patients with LAL-D (clinical trial registration: NCT01528917). METHODS: Data were analyzed from 31 patients with available biopsy data and 1 patient without biopsy data who had undergone liver transplantation...
April 3, 2017: Current Medical Research and Opinion
https://www.readbyqxmd.com/read/28301559/synergy-between-the-classical-and-alternative-pathways-of-complement-is-essential-for-conferring-effective-protection-against-the-pandemic-influenza-a-h1n1-2009-virus-infection
#12
Ajitanuj Rattan, Shailesh D Pawar, Renuka Nawadkar, Neeraja Kulkarni, Girdhari Lal, Jayati Mullick, Arvind Sahu
The pandemic influenza A(H1N1) 2009 virus caused significant morbidity and mortality worldwide thus necessitating the need to understand the host factors that influence its control. Previously, the complement system has been shown to provide protection during the seasonal influenza virus infection, however, the role of individual complement pathways is not yet clear. Here, we have dissected the role of intact complement as well as of its individual activation pathways during the pandemic influenza virus infection using mouse strains deficient in various complement components...
March 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28300738/preliminary-results-from-the-comparison-of-simple-limbal-epithelial-transplantation-with-conjunctival-limbal-autologous-transplantation-in-severe-unilateral-chronic-ocular-burns
#13
Ritu Arora, Pallavi Dokania, Aditi Manudhane, Jawahar Lal Goyal
PURPOSE: To compare the safety, efficacy, and clinical outcomes of simple limbal epithelial transplantation (SLET) with conjunctival-limbal autologous transplantation (CLAU) in severe unilateral ocular chemical burns. MATERIALS AND METHODS: Twenty patients of unilateral chronic ocular burns with more than 270° limbal stem cell deficiency and a healthy fellow eye were divided into two groups - ten patients of Group A underwent SLET while ten patients of Group B were operated for CLAU...
January 2017: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/28292877/the-effects-of-dual-ppar%C3%AE-%C3%AE-agonism-compared-with-ace-inhibition-in-the-btbrob-ob-mouse-model-of-diabetes-and-diabetic-nephropathy
#14
Anette Ericsson, Pernilla Tonelius, Mark Lal, Alan Sabirsh, Gerhard Böttcher, Lena William-Olsson, Maria Strömstedt, Camilla Johansson, Gina Hyberg, Sofia Tapani, Ann-Cathrine Jönsson-Rylander, Robert Unwin
The leptin-deficient BTBRob/ob mouse develops progressive albuminuria and morphological lesions similar to human diabetic nephropathy (DN), although whether glomerular hyperfiltration, a recognized feature of early DN that may contribute to renal injury, also occurs in this model is not known. Leptin replacement has been shown to reverse the signs of renal injury in this model, but in contrast, the expected renoprotection by angiotensin-converting enzyme (ACE) inhibition in BTBRob/ob mice seems to be limited...
March 2017: Physiological Reports
https://www.readbyqxmd.com/read/28285817/update-on-lysosomal-acid-lipase-deficiency-diagnosis-treatment-and-patient-management
#15
Carmen Camarena, Luis J Aldamiz-Echevarria, Begoña Polo, Miguel A Barba Romero, Inmaculada García, Jorge J Cebolla, Emilio Ros
Lysosomal acid lipase deficiency (LALD) is an ultra-rare disease caused by a congenital disorder of the lipid metabolism, characterized by the deposition of cholesterol esters and triglycerides in the organism. In patients with no enzyme function, the disease develops during the perinatal period and is invariably associated with death during the first year of life. In all other cases, the phenotype is heterogeneous, although most patients develop chronic liver diseases and may also develop an early cardiovascular disease...
May 10, 2017: Medicina Clínica
https://www.readbyqxmd.com/read/28242812/crispr-knockout-of-the-hur-gene-causes-a-xenograft-lethal-phenotype
#16
Shruti Lal, Edwin C Cheung, Mahsa Zarei, Ranjan Preet, Saswati N Chand, Nicole C Mambelli-Lisboa, Carmella Romeo, Matthew C Stout, Eric Londin, Austin Goetz, Cinthya Y Lowder, Avinoam Nevler, Charles J Yeo, Paul M Campbell, Jordan M Winter, Dan A Dixon, Jonathan R Brody
Pancreatic ductal adenocarcinoma (PDA) is the third leading cause of cancer-related deaths in the United States, whereas colorectal cancer is the third most common cancer. The RNA-binding protein HuR (ELAVL1) supports a pro-oncogenic network in gastrointestinal (GI) cancer cells through enhanced HuR expression. Using a publically available database, HuR expression levels were determined to be increased in primary PDA and colorectal cancer tumor cohorts as compared with normal pancreas and colon tissues, respectively...
February 27, 2017: Molecular Cancer Research: MCR
https://www.readbyqxmd.com/read/28220406/lysosomal-acid-lipase-deficiency-in-23-spanish-patients-high-frequency-of-the-novel-c-966-2t-g-mutation-in-wolman-disease
#17
Carla Ruiz-Andrés, Elena Sellés, Angela Arias, Laura Gort
Lysosomal acid lipase (LAL) is a lysosomal key enzyme involved in the intracellular hydrolysis of cholesteryl esters and triglycerides. Patients with very low residual LAL activity present with the infantile severe form Wolman disease (WD), while patients with some residual activity develop the less severe disorder known as Cholesteryl ester storage disorder (CESD). We present the clinical, biochemical, and molecular findings of 23 Spanish patients (22 families) with LAL deficiency. We identified eight different mutations, four of them not previously reported...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28197978/managing-cardiovascular-risk-in-lysosomal-acid-lipase-deficiency
#18
REVIEW
James J Maciejko
Lysosomal acid lipase deficiency (LAL-D) is a rare, life-threatening, autosomal recessive, lysosomal storage disease caused by mutations in the LIPA gene, which encodes for lysosomal acid lipase (LAL). This enzyme is necessary for the hydrolysis of cholesteryl ester and triglyceride in lysosomes. Deficient LAL activity causes accumulation of these lipids in lysosomes and a marked decrease in the cytoplasmic free cholesterol concentration, leading to dysfunctional cholesterol homeostasis. The accumulation of neutral lipid occurs predominantly in liver, spleen, and macrophages throughout the body, and the aberrant cholesterol homeostasis causes a marked dyslipidemia...
June 2017: American Journal of Cardiovascular Drugs: Drugs, Devices, and Other Interventions
https://www.readbyqxmd.com/read/28179703/evaluation-of-five-discriminating-indexes-to-distinguish-beta-thalassemia-trait-from-iron-deficiency-anaemia
#19
Zahid Ullah, Aamer Ali Khattak, Sara Arif Ali, Javaid Hussain, Badshah Noor, Raheela Bano, Muhammad Amin Jan Mahsud
OBJECTIVE: To assess the reliability of different red blood cell indices-based formulae in the indexes formula in differential diagnosis of beta thalassemia trait and iron deficiency anaemia. METHODS: This cross-sectional study was conducted between January and October 2015 in Dera Ismail Khan in the Khyber Pakhtunkhwa province of Pakistan. Patients of beta thalassemia trait and iron deficiency anaemia were registered irrespective of age and gender. About 5 mL of blood was taken from each patient to analyse different red cell parameters like red blood cell count, haemoglobin, mean cell volume, mean cell haemoglobin, mean cell haemoglobin concentration, and red cell distribution width...
December 2016: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28176443/quantitative-phosphoproteomic-analysis-reveals-system-wide-signaling-pathways-regulated-by-site-specific-phosphorylation-on-keratin-8-in-skin-squamous-cell-carcinoma-derived-cell-line
#20
Richa Tiwari, Indrajit Sahu, Bihari Lal Soni, Gajanan J Sathe, Keshava K Datta, Pankaj Thapa, Shruti Sinha, Chella Krishna Vadivel, Bharti Dhaka, Harsha Gowda, Milind M Vaidya
Keratin 8/18, a simple epithelia specific keratin pair, is often aberrantly expressed in squamous cell carcinomas (SCC) where its expression is correlated with increased invasion and poor prognosis. Majority of Keratin 8 (K8) functions are governed by its phosphorylation at Serine(73) (head-domain) and Serine(431) (tail-domain) residues. Although, deregulation of K8 phosphorylation is associated with progression of different carcinomas, its role in skin-SCC and the underlying mechanism is obscure. In this direction, we performed TMT-based quantitative phosphoproteomics by expressing K8 wild type, phosphodead and phosphomimetic mutants in K8-deficient A431 cells...
February 7, 2017: Proteomics
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