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https://www.readbyqxmd.com/read/29100281/recq1-expression-is-upregulated-in-response-to-dna-damage-and-in-a-p53-dependent-manner
#1
Swetha Parvathaneni, Xing Lu, Ritu Chaudhary, Ashish Lal, Srinivasan Madhusudan, Sudha Sharma
Sensitivity of cancer cells to DNA damaging chemotherapeutics is determined by DNA repair processes. Consequently, cancer cells may upregulate the expression of certain DNA repair genes as a mechanism to promote chemoresistance. Here, we report that RECQ1, a breast cancer susceptibility gene that encodes the most abundant RecQ helicase in humans, is a p53-regulated gene, potentially acting as a defense against DNA damaging agents. We show that RECQ1 mRNA and protein levels are upregulated upon treatment of cancer cells with a variety of DNA damaging agents including the DNA-alkylating agent methylmethanesulfonate (MMS)...
September 29, 2017: Oncotarget
https://www.readbyqxmd.com/read/29044707/the-effect-of-vitamin-d-supplementation-on-bone-metabolic-markers-in-chronic-kidney-disease
#2
Ashok Kumar Yadav, Vivek Kumar, Vinod Kumar, Debasish Banerjee, Krishan Lal Gupta, Vivekanand Jha
Use of active forms of vitamin D is advocated in patients with chronic kidney disease (CKD) for treatment of mineral bone disease because of the presumption that native forms of vitamin D would not undergo significant activation to calcitriol, the most active biological form of vitamin D. We present secondary analysis looking at bone turnover in subjects who completed the randomized, double blind, placebo-controlled trial investigating the effect of cholecalciferol supplementation on vascular function in nondiabetic CKD stage G3-G4 and vitamin D ≤20 ng/mL (Clinical Trials Registry of India: CTRI/2013/05/003648)...
October 17, 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28934514/new-bioinformatics-based-discrimination-formulas-for-differentiation-of-thalassemia-traits-from-iron-deficiency-anemia
#3
Abdul Hafeez Kandhro, Watshara Shoombuatong, Virapong Prachayasittikul, Pornlada Nuchnoi
Thalassemia traits (TTs) and iron deficiency anemia (IDA) are the most common disorders of hypochromic microcytic anemia (HMA). The present study aimed to differentiate TTs from IDA by analyzing discrimination formulas and provides comprehensive data of hemoglobin disorders prevalent in Pakistan. Among 12 published discrimination formulas, 6 formulas-MI, EF, G&K, RDWI, R, and HHI-were the most reliable to discriminate TTs from IDA. The failure cutoff values were improved by the random forest (RF) decision-tree approach...
August 1, 2017: Laboratory Medicine
https://www.readbyqxmd.com/read/28933363/the-spectrum-of-neurological-manifestations-associated-with-gaucher-disease
#4
REVIEW
Tamanna Roshan Lal, Ellen Sidransky
Gaucher disease, the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. This leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages, affecting the hematological, visceral, bone and neurologic systems. Gaucher disease is classified into three broad phenotypes based upon the presence or absence of neurological involvement: type 1 (non-neuronopathic), type 2 (acute neuronopathic), and type 3 (subacute neuronopathic). Phenotypically, there is a wide spectrum of visceral and neurological manifestations...
March 2, 2017: Diseases (Basel)
https://www.readbyqxmd.com/read/28924047/endothelial-rab7-gtpase-mediates-tumor-growth-and-metastasis-in-lysosomal-acid-lipase-deficient-mice
#5
Ting Zhao, Xinchun Ding, Cong Yan, Hong Du
Tumors depend on their microenvironment for sustained growth, invasion and metastasis. In this environment, endothelial cells (ECs) are an important stromal cell type interacting with malignant cells to facilitate tumor angiogenesis and cancer cell extravasation. Of note, lysosomal acid lipase (LAL) deficiency facilitates melanoma growth and metastasis. ECs from LAL-deficient (lal-/-) mice possess enhanced proliferation, migration, and permeability of inflammatory cells by activating the mammalian target of rapamycin (mTOR) pathway...
September 18, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28900817/spleen-dimensions-are-inversely-associated-with-lysosomal-acid-lipase-activity-in-patients-with-non-alcoholic-fatty-liver-disease
#6
Licia Polimeni, Daniele Pastori, Francesco Baratta, Giulia Tozzi, Marta Novo, Roberto Vicinanza, Giovanni Troisi, Gaetano Pannitteri, Fabrizio Ceci, Laura Scardella, Francesco Violi, Francesco Angelico, Maria Del Ben
Fatty liver and splenomegaly are typical features of genetic lysosomal acid lipase (LAL) deficiency. No data in adult patients with non-genetic reduction of LAL activity are available. We investigate the association between spleen dimensions and LAL activity in non-alcoholic fatty liver disease (NAFLD) patients, in whom a reduced LAL activity has been reported. We include 425 consecutive patients who underwent abdominal ultrasound to evaluate hepatic steatosis and spleen dimensions. LAL activity was measured with dried blood spot method (Lalistat2)...
December 2017: Internal and Emergency Medicine
https://www.readbyqxmd.com/read/28892883/a-case-of-hyperargininaemia-presenting-at-unusually-low-age
#7
Vanita Lal, Daisy Khera, Garima Gupta, Kuldeep Singh, Praveen Sharma
Arginase or ARG1 gene deficiency is a Type V Urea Cycle Disorder (UCD) (catalysing the fifth reaction of urea cycle), associated with hyperammonaemia. Here, we discuss a rare case of a 13-month-old female, having Severe Acute Malnutrition (SAM) and failure to thrive, with serial high plasma ammonia, normal plasma lactate with high arginine and glutamine levels on Amino Acid Assay (AAA) which was performed on 1220 Agilent HPLC. She was admitted for about a month and eventually succumbed to her ailment after a month of discharge...
July 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28882870/crispr-cas9-mediated-gene-editing-in-human-ipsc-derived-macrophage-reveals-lysosomal-acid-lipase-function-in-human-macrophages-brief-report
#8
Hanrui Zhang, Jianting Shi, Melanie A Hachet, Chenyi Xue, Robert C Bauer, Hongfeng Jiang, Wenjun Li, Junichiro Tohyama, John Millar, Jeffrey Billheimer, Michael C Phillips, Babak Razani, Daniel J Rader, Muredach P Reilly
OBJECTIVE: To gain mechanistic insights into the role of LIPA (lipase A), the gene encoding LAL (lysosomal acid lipase) protein, in human macrophages. APPROACH AND RESULTS: We used CRISPR (clustered regularly interspaced short palindromic repeats)/Cas9 (CRISPR-associated protein 9) technology to knock out LIPA in human induced pluripotent stem cells and then differentiate to macrophage (human-induced pluripotent stem cells-derived macrophage [IPSDM]) to explore the human macrophage LIPA loss-of-function phenotypes...
November 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28881270/molecular-and-clinical-characterization-of-a-series-of-patients-with-childhood-onset-lysosomal-acid-lipase-deficiency-retrospective-investigations-follow-up-and-detection-of-two-novel-lipa-pathogenic-variants
#9
Livia Pisciotta, Giulia Tozzi, Lorena Travaglini, Roberta Taurisano, Tiziano Lucchi, Giuseppe Indolfi, Francesco Papadia, Maja Di Rocco, Lorenzo D'Antiga, Patricia Crock, Komal Vora, Scott Nightingale, Helen Michelakakis, Anastasia Garoufi, Lilia Lykopoulou, Stefano Bertolini, Sebastiano Calandra
BACKGROUND AND AIMS: Childhood/Adult-onset Lysosomal Acid Lipase Deficiency (LAL-D) is a recessive disorder due to loss of function variants of LAL, the enzyme which hydrolyses cholesteryl esters, derived from internalized apoB containing lipoproteins. The disease is characterized by multi-organ involvement including the liver, spleen, intestine and cardiovascular system. The aim of this study was the clinical and molecular characterization of 14 (13 unrelated) previously unreported patients with childhood-onset LAL-D...
October 2017: Atherosclerosis
https://www.readbyqxmd.com/read/28877474/long-noncoding-rna-purpl-suppresses-basal-p53-levels-and-promotes-tumorigenicity-in-colorectal-cancer
#10
Xiao Ling Li, Murugan Subramanian, Matthew F Jones, Ritu Chaudhary, Deepak K Singh, Xinying Zong, Berkley Gryder, Sivasish Sindri, Min Mo, Aaron Schetter, Xinyu Wen, Swetha Parvathaneni, Dickran Kazandjian, Lisa M Jenkins, Wei Tang, Fathi Elloumi, Jennifer L Martindale, Maite Huarte, Yuelin Zhu, Ana I Robles, Susan M Frier, Frank Rigo, Maggie Cam, Stefan Ambs, Sudha Sharma, Curtis C Harris, Mary Dasso, Kannanganattu V Prasanth, Ashish Lal
Basal p53 levels are tightly suppressed under normal conditions. Disrupting this regulation results in elevated p53 levels to induce cell cycle arrest, apoptosis, and tumor suppression. Here, we report the suppression of basal p53 levels by a nuclear, p53-regulated long noncoding RNA that we termed PURPL (p53 upregulated regulator of p53 levels). Targeted depletion of PURPL in colorectal cancer cells results in elevated basal p53 levels and induces growth defects in cell culture and in mouse xenografts. PURPL associates with MYBBP1A, a protein that binds to and stabilizes p53, and inhibits the formation of the p53-MYBBP1A complex...
September 5, 2017: Cell Reports
https://www.readbyqxmd.com/read/28804516/the-role-of-sebelipase-alfa-in-the-treatment-of-lysosomal-acid-lipase-deficiency
#11
REVIEW
Angelika L Erwin
Lysosomal acid lipase deficiency (LALD) is a lysosomal storage disorder (LSD) characterized either by infantile onset with fulminant clinical course and very poor prognosis or childhood/adult-onset disease with an attenuated phenotype. The disorder is often misdiagnosed or remains undiagnosed in children and adults due to a rather unspecific clinical presentation with dyslipidemia and steatohepatitis. Until recently, no good treatment options were available for LALD. Despite supportive and symptomatic therapies, death occurred before 1 year of age in patients with infantile-onset disease and patients with childhood/adult-onset LALD suffered from significant complications, such as liver cirrhosis, requiring liver transplantation and early-onset cardiovascular disease...
July 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/28764146/role-of-anaemia-and-magnesium-levels-at-the-initiation-of-tuberculosis-therapy-with-sputum-conversion-among-pulmonary-tuberculosis-patients
#12
Yuthika Agrawal, Vipin Goyal, Abhishek Singh, Sandhya Lal
INTRODUCTION: Both pulmonary Tuberculosis (TB) and anaemia are prevalent in India. Magnesium levels also influence TB. There is limited and inconsistent literature on the association among anaemia, serum magnesium levels and sputum conversion during tuberculosis treatment. AIM: To study the effect of anaemia and serum magnesium levels on sputum conversion in pulmonary TB patients. MATERIALS AND METHODS: One hundred each of newly diagnosed sputum smear positive Pulmonary Tuberculosis (PTB), sputum smear negative PTB patients initiated on Directly Observed Treatment Short Course chemotherapy (DOTS) and healthy age and sex matched controls were recruited in the study...
June 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28706390/the-role-of-discriminant-functions-in-screening-beta-thalassemia-trait-and-iron-deficiency-anemia-among-laboratory-samples
#13
Ashwani Kumar, Debarshi Saha, Jyoti Kini, Nirupama Murali, Shrijeet Chakraborti, Deepa Adiga
INTRODUCTION: Most important differential diagnosis for microcytosis and hypochromia is beta thalassemia trait (BTT) and iron deficiency anemia. AIM: To study the utility of discriminant functions (DFs) and red cell indices in distinguishing BTT and iron deficiency anemia. METHODS: The study is observational (cross sectional). A total of 350 patients, 43 BTT, and 307 iron-deficiency anemia reflecting actual disease prevalence were included...
July 2017: Journal of Laboratory Physicians
https://www.readbyqxmd.com/read/28667080/a-randomized-trial-of-vitamin-d-supplementation-on-vascular-function-in-ckd
#14
RANDOMIZED CONTROLLED TRIAL
Vivek Kumar, Ashok Kumar Yadav, Anupam Lal, Vinod Kumar, Manphool Singhal, Laurent Billot, Krishan Lal Gupta, Debasish Banerjee, Vivekanand Jha
Vitamin D deficiency associates with mortality in patients with CKD, and vitamin D supplementation might mitigate cardiovascular disease risk in CKD. In this randomized, double-blind, placebo-controlled trial, we investigated the effect of cholecalciferol supplementation on vascular function in 120 patients of either sex, aged 18-70 years, with nondiabetic CKD stage 3-4 and vitamin D deficiency (serum 25-hydroxyvitamin D ≤20 ng/ml). We randomized patients using a 1:1 ratio to receive either two directly observed oral doses of cholecalciferol (300,000 IU) or matching placebo at baseline and 8 weeks...
October 2017: Journal of the American Society of Nephrology: JASN
https://www.readbyqxmd.com/read/28659158/neural-stem-cells-for-disease-modeling-of-wolman-disease-and-evaluation-of-therapeutics
#15
Francis Aguisanda, Charles D Yeh, Catherine Z Chen, Rong Li, Jeanette Beers, Jizhong Zou, Natasha Thorne, Wei Zheng
BACKGROUND: Wolman disease (WD) is a rare lysosomal storage disorder that is caused by mutations in the LIPA gene encoding lysosomal acid lipase (LAL). Deficiency in LAL function causes accumulation of cholesteryl esters and triglycerides in lysosomes. Fatality usually occurs within the first year of life. While an enzyme replacement therapy has recently become available, there is currently no small-molecule drug treatment for WD. RESULTS: We have generated induced pluripotent stem cells (iPSCs) from two WD patient dermal fibroblast lines and subsequently differentiated them into neural stem cells (NSCs)...
June 28, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28652247/posttranscriptional-upregulation-of-idh1-by-hur-establishes-a-powerful-survival-phenotype-in-pancreatic-cancer-cells
#16
Mahsa Zarei, Shruti Lal, Seth J Parker, Avinoam Nevler, Ali Vaziri-Gohar, Katerina Dukleska, Nicole C Mambelli-Lisboa, Cynthia Moffat, Fernando F Blanco, Saswati N Chand, Masaya Jimbo, Joseph A Cozzitorto, Wei Jiang, Charles J Yeo, Eric R Londin, Erin L Seifert, Christian M Metallo, Jonathan R Brody, Jordan M Winter
Cancer aggressiveness may result from the selective pressure of a harsh nutrient-deprived microenvironment. Here we illustrate how such conditions promote chemotherapy resistance in pancreatic ductal adenocarcinoma (PDAC). Glucose or glutamine withdrawal resulted in a 5- to 10-fold protective effect with chemotherapy treatment. PDAC xenografts were less sensitive to gemcitabine in hypoglycemic mice compared with hyperglycemic mice. Consistent with this observation, patients receiving adjuvant gemcitabine (n = 107) with elevated serum glucose levels (HgbA1C > 6...
August 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28634546/low-hemoglobin-among-pregnant-women-in-midwives-practice-of-primary-health-care-jatinangor-indonesia-iron-deficiency-anemia-or-%C3%AE-thalassemia-trait
#17
Ari Indra Susanti, Edhyana Sahiratmadja, Gatot Winarno, Adhi Kristianto Sugianli, Herman Susanto, Ramdan Panigoro
Low hemoglobin (Hb) or anemia is common among pregnant women in developing countries which may cause adverse pregnancy outcomes and maternal deaths. Our study aimed to assess Hb level measured by midwives in primary health care facility at rural area of Jatinangor, Indonesia, and to explore whether the anemia was due to iron deficiency (IDA) or β-thalassemia trait (β-TT). Pregnant women (n = 105) had finger prick test for Hb level during a regular antenatal care examination from October to November 2016. Hb level by finger prick test was compared with venous blood, measured by complete blood count (CBC)...
2017: Anemia
https://www.readbyqxmd.com/read/28612634/lysosomal-acid-lipase-deficiency-a-form-of-non-obese-fatty-liver-disease-nofld
#18
Hassan H A-Kader
With the growing obesity epidemic, nonalcoholic fatty liver disease (NAFLD) is rapidly becoming one of the leading causes of liver disease worldwide. Although obesity is a main risk factor for the development of NAFLD, it can also develop in lean subjects and can be encountered in different clinical setting and in association with an array of genetic, metabolic, nutritional, infectious and drug-induced disorders. Areas covered: This article discusses causes of fatty liver in non-obese subjects focusing on Lysosomal acid lipase deficiency (LAL-D), a commonly overlooked disorder reviewing its prevalence, genetics, pathogenesis, clinical features, diagnosis and treatment...
June 26, 2017: Expert Review of Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/28599317/recq1-expression-is-upregulated-in-response-to-dna-damage-and-in-a-p53-dependent-manner
#19
Swetha Parvathaneni, Xing Lu, Ritu Chaudhary, Ashish Lal, Srinivasan Madhusudan, Sudha Sharma
Sensitivity of cancer cells to DNA damaging chemotherapeutics is determined by DNA repair processes. Consequently, cancer cells may upregulate the expression of certain DNA repair genes as a mechanism to promote chemoresistance. Here, we report that RECQ1, a breast cancer susceptibility gene that encodes the most abundant RecQ helicase in humans, is a p53-regulated gene, potentially acting as a defense against DNA damaging agents. We show that RECQ1 mRNA and protein levels are upregulated upon treatment of cancer cells with a variety of DNA damaging agents including the DNA-alkylating agent methylmethanesulfonate (MMS)...
May 27, 2017: Oncotarget
https://www.readbyqxmd.com/read/28587063/a-relative-deficiency-of-lysosomal-acid-lypase-activity-characterizes-non-alcoholic-fatty-liver-disease
#20
Francesco Tovoli, Lucia Napoli, Giulia Negrini, Sergio D'Addato, Giulia Tozzi, Jessica D'Amico, Fabio Piscaglia, Luigi Bolondi
Lysosomal acid lipase (LAL) is a key enzyme in lipid metabolism. Initial reports have suggested a role for a relative acquired LAL deficiency in non-alcoholic fatty liver disease (NAFLD)-however, it is still unclear whether this mechanism is specific for NAFLD. We aimed to determine LAL activity in a cohort of NAFLD subjects and in a control group of hepatitis C virus (HCV)-infected patients, investigating the role of liver cirrhosis. A total of 81 patients with a diagnosis of NAFLD, and 78 matched controls with HCV-related liver disease were enrolled...
May 25, 2017: International Journal of Molecular Sciences
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