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https://www.readbyqxmd.com/read/28345319/vascular-cell-adhesion-molecule-1-intercellular-adhesion-molecule-1-and-cluster-of-differentiation-146-levels-in-patients-with-type-2-diabetes-with-complications
#1
F Sinem Hocaoglu-Emre, Devrim Saribal, Guven Yenmis, Guvenc Guvenen
BACKGROUND: Type 2 diabetes mellitus (T2DM) is a multisystemic, chronic disease accompanied by microvascular complications involving various complicated mechanisms. Intercellular adhesion molecule 1 (ICAM-1), vascular cell adhesion molecule 1 (VCAM-1), and cluster of differentiation-146 (CD146) are mainly expressed by endothelial cells, and facilitate the adhesion and transmigration of immune cells, leading to inflammation. In the present study, we evaluated the levels of soluble adhesion molecules in patients with microvascular complications of T2DM...
March 2017: Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28343629/biallelic-variants-in-otud6b-cause-an-intellectual-disability-syndrome-associated-with-seizures-and-dysmorphic-features
#2
Teresa Santiago-Sim, Lindsay C Burrage, Frédéric Ebstein, Mari J Tokita, Marcus Miller, Weimin Bi, Alicia A Braxton, Jill A Rosenfeld, Maher Shahrour, Andrea Lehmann, Benjamin Cogné, Sébastien Küry, Thomas Besnard, Bertrand Isidor, Stéphane Bézieau, Isabelle Hazart, Honey Nagakura, LaDonna L Immken, Rebecca O Littlejohn, Elizabeth Roeder, Bulent Kara, Katia Hardies, Sarah Weckhuysen, Patrick May, Johannes R Lemke, Orly Elpeleg, Bassam Abu-Libdeh, Kiely N James, Jennifer L Silhavy, Mahmoud Y Issa, Maha S Zaki, Joseph G Gleeson, John R Seavitt, Mary E Dickinson, M Cecilia Ljungberg, Sara Wells, Sara J Johnson, Lydia Teboul, Christine M Eng, Yaping Yang, Peter-Michael Kloetzel, Jason D Heaney, Magdalena A Walkiewicz
Ubiquitination is a posttranslational modification that regulates many cellular processes including protein degradation, intracellular trafficking, cell signaling, and protein-protein interactions. Deubiquitinating enzymes (DUBs), which reverse the process of ubiquitination, are important regulators of the ubiquitin system. OTUD6B encodes a member of the ovarian tumor domain (OTU)-containing subfamily of deubiquitinating enzymes. Herein, we report biallelic pathogenic variants in OTUD6B in 12 individuals from 6 independent families with an intellectual disability syndrome associated with seizures and dysmorphic features...
March 21, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28321355/a-rare-presentation-of-sarcoidosis-as-a-pancreatic-head-mass
#3
Shruti Mony, Pradnya D Patil, Rebekah English, Ananya Das, Daniel A Culver, Tanmay S Panchabhai
Sarcoidosis is a multisystem granulomatous syndrome of unknown etiology with noncaseating epithelioid granulomas being the pathognomonic pathological finding. Sarcoidosis most commonly involves the lungs and involvement of the gastrointestinal (GI) tract is uncommon. Pancreatic sarcoidosis is very rare, especially when it is the presenting feature of sarcoidosis and can masquerade as pancreatic cancer. Tissue infiltration in pancreatic sarcoidosis can lead to either a diffuse nodular appearance or a mass-like lesion...
2017: Case Reports in Pulmonology
https://www.readbyqxmd.com/read/28318950/cholesteryl-ester-storage-disease-an-underdiagnosed-cause-of-cirrhosis-in-adults
#4
REVIEW
Mamta Pant, Kiyoko Oshima
Cholesteryl Ester Storage Disease (CESD), is a rare multisystem autosomal recessive disorder and belongs to the broad family of lysosomal storage disorders. It can present anytime from infancy and childhood to even adulthood. The clinical manifestations are generally severe in infants and with milder forms in adults. One of the prominent sites of involvement is liver. Due to low awareness of this condition among physicians including surgical pathologists, majority of the liver biopsies, especially from the adults are often misdiagnosed as non-alcoholic fatty liver disease/non-alcoholic steatohepatitis or cryptogenic cirrhosis...
February 9, 2017: Annals of Diagnostic Pathology
https://www.readbyqxmd.com/read/28276057/the-mutation-p-d313y-is-associated-with-organ-manifestation-in-fabry-disease
#5
M du Moulin, A F Koehn, A Golsari, S Dulz, Y Atiskova, M Patten, J Münch, M Avanesov, K Ullrich, N Muschol
Fabry disease is a multisystem lysosomal storage disorder caused by mutations in the GLA gene. The clinical significance of the mutation p.D313Y is still under debate. Retrospective chart analysis of clinical (neurological, cardiac, renal, ophthalmological), genetic, and biochemical (lyso-globotriaosylsphingosine, lyso-Gb3; enzyme activity) data was done in all our patients carrying the p.D313Y mutation. Fourteen patients from 5 families (10 female, 4 male; age range 10-51) were included. Symptoms and organ manifestations compatible with Fabry disease could be identified in 10 patients...
March 9, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28245613/from-lysosomal-storage-diseases-to-nkt-cell-activation-and-back
#6
REVIEW
Cátia S Pereira, Helena Ribeiro, M Fatima Macedo
Lysosomal storage diseases (LSDs) are inherited metabolic disorders characterized by the accumulation of different types of substrates in the lysosome. With a multisystemic involvement, LSDs often present a very broad clinical spectrum. In many LSDs, alterations of the immune system were described. Special emphasis was given to Natural Killer T (NKT) cells, a population of lipid-specific T cells that is activated by lipid antigens bound to CD1d (cluster of differentiation 1 d) molecules at the surface of antigen-presenting cells...
February 25, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28220405/altered-cellular-homeostasis-in-murine-mps-i-fibroblasts-evidence-of-cell-specific-physiopathology
#7
Gustavo Monteiro Viana, Cinthia Castro do Nascimento, Edgar Julian Paredes-Gamero, Vânia D'Almeida
Mucopolysaccharidosis type I (MPS I), a rare autosomal recessive disease, is caused by a deficiency of the lysosomal enzyme alfa-L-iduronidase. Impaired enzyme activity promotes glycosaminoglycans accumulation in several tissues and organs, leading to complex multisystemic complications. Several studies using animal models indicated different intracellular pathways involving MPS I physiopathology; however, the exact mechanisms underlying this syndrome are still not understood. Previous results from our group showed alterations in ionic homeostasis and cell viability of splenocytes and macrophages in Idua-/- mice...
February 21, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28193709/testosterone-represses-estrogen-signaling-by-upregulating-mir-22-a-mechanism-for-imbalanced-steroid-hormone-production-in-preeclampsia
#8
Xuan Shao, Yanlei Liu, Ming Liu, Yongqing Wang, Liying Yan, Hao Wang, Liyang Ma, Yu-Xia Li, Yangyu Zhao, Yan-Ling Wang
Preeclampsia, a multisystem syndrome occurring during mid- to late gestation in humans, is a leading cause of maternal and perinatal morbidity and mortality. Patients usually present with high circulating testosterone and reduced estradiol production, but the mechanisms remain unclear. Revealing the mechanism that modulating the imbalance of testosterone and estradiol in preeclampsia is of great value in understanding the cause of the disease. The placenta is the predominant source of steroid hormone production during gestation, and we observed markedly increased 17β-HSD3 (17β-hydroxysteroid dehydrogenase 3) levels and downregulated aromatase expression, the key enzymes responsible for synthesis of testosterone and estradiol, respectively, in preeclamptic placentas compared with controls...
February 13, 2017: Hypertension
https://www.readbyqxmd.com/read/28185884/the-emerging-phenotype-of-late-onset-pompe-disease-a-systematic-literature-review
#9
REVIEW
Justin Chan, Ankit K Desai, Zoheb B Kazi, Kaitlyn Corey, Stephanie Austin, Lisa D Hobson-Webb, Laura E Case, Harrison N Jones, Priya S Kishnani
BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal glycogen-hydrolyzing enzyme acid α-glucosidase (GAA). The adult-onset form, late-onset Pompe disease (LOPD), has been characterized by glycogen accumulation primarily in skeletal, cardiac, and smooth muscles, causing weakness of the proximal limb girdle and respiratory muscles. However, increased scientific study of LOPD continues to enhance understanding of an evolving phenotype. PURPOSE: To expand our understanding of the evolving phenotype of LOPD since the approval of enzyme replacement therapy (ERT) with alglucosidase alfa (Myozyme™/Lumizyme™) in 2006...
March 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28165343/sphingosine-1-phosphate-lyase-mutations-cause-primary-adrenal-insufficiency-and-steroid-resistant-nephrotic-syndrome
#10
Rathi Prasad, Irene Hadjidemetriou, Avinaash Maharaj, Eirini Meimaridou, Federica Buonocore, Moin Saleem, Jenny Hurcombe, Agnieszka Bierzynska, Eliana Barbagelata, Ignacio Bergadá, Hamilton Cassinelli, Urmi Das, Ruth Krone, Bulent Hacihamdioglu, Erkan Sari, Ediz Yesilkaya, Helen L Storr, Maria Clemente, Monica Fernandez-Cancio, Nuria Camats, Nanik Ram, John C Achermann, Paul P Van Veldhoven, Leonardo Guasti, Debora Braslavsky, Tulay Guran, Louise A Metherell
Primary adrenal insufficiency is life threatening and can present alone or in combination with other comorbidities. Here, we have described a primary adrenal insufficiency syndrome and steroid-resistant nephrotic syndrome caused by loss-of-function mutations in sphingosine-1-phosphate lyase (SGPL1). SGPL1 executes the final decisive step of the sphingolipid breakdown pathway, mediating the irreversible cleavage of the lipid-signaling molecule sphingosine-1-phosphate (S1P). Mutations in other upstream components of the pathway lead to harmful accumulation of lysosomal sphingolipid species, which are associated with a series of conditions known as the sphingolipidoses...
March 1, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28098348/impact-of-lysosomal-storage-disorders-on-biology-of-mesenchymal-stem-cells-evidences-from-in-vitro-silencing-of-glucocerebrosidase-gba-and-alpha-galactosidase-a-gla-enzymes
#11
Tiziana Squillaro, Antonucci Ivana, Nicola Alessio, Anna Esposito, Marilena Cipollaro, Marina Melone, Gianfranco Peluso, Liborio Stuppia, Umberto Galderisi
Lysosomal storage disorders (LDS) comprise a group of rare multisystemic diseases resulting from inherited gene mutations that impair lysosomal homeostasis. The most common LSDs, Gaucher disease (GD), and Fabry disease (FD) are caused by deficiencies in the lysosomal glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes, respectively. Given the systemic nature of enzyme deficiency, we hypothesized that the stem cell compartment of GD and FD patients might be also affected. Among stem cells, mesenchymal stem cells (MSCs) are a commonly investigated population given their role in hematopoiesis and the homeostatic maintenance of many organs and tissues...
January 18, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28032065/insertion-deletion-polymorphisms-and-serum-angiotensin-converting-enzyme-levels-in-iranian-patients-with-sarcoidosis
#12
Alireza Javadi, Masoud Shamaei, Masoud Zarei, Lida Rezaeian, Arda Kiani, Atefeh Abedini
BACKGROUND: Sarcoidosis is a multisystem inflammatory disease of unknown origin with characterization of small granulomas. Angiotensin-converting enzyme (ACE) is a pathophysiologic marker of sarcoidosis. We present the ACE insertion/deletion (I/D) polymorphism in correlation with serum ACE level in Iranian patients with sarcoidosis. METHODS: From Jan 2014 to Jan 2015, 102 Iranian patients who histopathologically diagnosed for sarcoidosis and 192 healthy age and sex-matched controls were recruited...
November 2016: Iranian Journal of Public Health
https://www.readbyqxmd.com/read/28011272/resolution-of-hydronephrosis-in-a-patient-with-mucopolysaccharidosis-type-ii-with-enzyme-replacement-therapy
#13
Kei Nishiyama, Takashi Imai, Kazuhiro Ohkubo, Masafumi Sanefuji, Hidetoshi Takada
Mucopolysaccharidosis type II (MPS II) is caused by deficiency of lysosomal enzyme iduronate-2-sulfatase. Insufficient activity of the enzyme results in accumulation of glycosaminoglycans leading to progressive multisystem pathologies. MPS II is less likely to be complicated by kidney and urinary tract problems. We report a boy with MPS II, who developed left hydronephrosis. His hydronephrosis improved after starting enzyme replacement therapy. It was suggested that MPS II was closely associated with the pathogenesis of hydronephrosis...
December 20, 2016: Urology
https://www.readbyqxmd.com/read/27911282/role-of-rehabilitation-in-hurler-s-syndrome
#14
Sudhir Ramkishore Mishra, Mona Shastri, Jaishree Ramesh
Hurler syndrome is an inherited autosomal recessive disorder of lysosomal accumulation of un-degraded glucosaminoglycan secondary to deficiency of a-L-Iduronidase enzyme. It is most severe form of Mucopolysaccharidosis with incidence of 1:100 000. It has multisystemic involvement leading to multiple deformity, disability and death within 10th years of life. A 2 year old boy presented with umbilical hernia, gross developmental delay and a progressive spinal deformity. On detailed clinical, radiological and laboratory investigation he was diagnosed as Hurler's syndrome...
November 25, 2016: Journal of Back and Musculoskeletal Rehabilitation
https://www.readbyqxmd.com/read/27881386/ppar%C3%AE-augments-heart-function-and-cardiac-fatty-acid-oxidation-in-early-experimental-polymicrobial-sepsis
#15
Stephen Wade Standage, Brock G Bennion, Taft Olpin Knowles, Dolena R Ledee, Michael A Portman, John K McGuire, W Conrad Liles, Aaron K Olson
Children with sepsis and multisystem organ failure have downregulated leukocyte gene expression of PPARα, a nuclear hormone receptor transcription factor that regulates inflammation and lipid metabolism. Mouse models of sepsis have likewise demonstrated that the absence of PPARα is associated with decreased survival and organ injury, specifically of the heart. Using a clinically relevant mouse model of early sepsis, we found that heart function increases in wild type (WT) mice over the first 24 hours of sepsis, but that mice lacking PPARα (Ppara(-/-)) cannot sustain the elevated heart function necessary to compensate for sepsis pathophysiology...
November 23, 2016: American Journal of Physiology. Heart and Circulatory Physiology
https://www.readbyqxmd.com/read/27861345/vitamin-d-receptor-gene-bsmi-polymorphisms-in-egyptian-children-and-adolescents-with-systemic-lupus-erythematosus-a-case-control-study
#16
Seham F Azab, Yasser F Ali, Mohsen A A Farghaly, Mohammed E Hamed, Mayy A N Allah, Ahmed A Emam, Nasser I Abdelsalam, Mustafa I A Hashem, Heba H Gawish, Rehab M Nabil, Lamiaa M Kamel, Dalia S Fahmy, Salah F Alsayed, Nashwa M Al Azizi, Ghada M Al-Akad, Maha A Noah, Hind M Abdelrahman, Ahmed R Ahmed, Eman A Bendary
Systemic lupus erythematosus (SLE) is a multisystemic autoimmune disease. The vitamin D receptor (VDR) gene is a candidate gene for susceptibility to autoimmune disorders. To date, only a few studies concerned the association of the VDR gene polymorphisms with childhood-onset SLE.In this study, we aimed to investigate the BsmI polymorphisms in the VDR gene, for the first time in Egyptian children and adolescents with SLE, to determine whether this polymorphism could be a marker of susceptibility to or severity of SLE and we also measured the serum level of 25-hydroxyvitamin D (25[OH] D) to assess its relation to such polymorphism...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27857755/can-long-term-thiamine-treatment-improve-the-clinical-outcomes-of-myotonic-dystrophy-type-1
#17
Antonio Costantini, Erika Trevi, Maria Immacolata Pala, Roberto Fancellu
Myotonic dystrophy type 1, also known as Steinert's disease, is an autosomal dominant disorder with multisystemic clinical features affecting the skeletal and cardiac muscles, the eyes, and the endocrine system. Thiamine (vitamin B1) is a cofactor of fundamental enzymes involved in the energetic cell metabolism; recent studies described its role in oxidative stress, protein processing, peroxisomal function, and gene expression. Thiamine deficiency is critical mainly in the central and peripheral nervous system, as well as in the muscular cells...
September 2016: Neural Regeneration Research
https://www.readbyqxmd.com/read/27814620/mucopolysaccharidosis-vi-pathophysiology-diagnosis-and-treatment
#18
Paul Harmatz, Renee Shediac
Mucopolysaccharidosis VI (MPS VI), or Maroteaux-Lamy syndrome, is an autosomal recessive lysosomal storage disorder caused by deficient activity of the enzyme arylsulfatase B (ASB). Progressive accumulation of glycosaminoglycans (GAGs) in organs and tissues leads to the development of multisystem clinical manifestations. The presentation of MPS VI is genotypically and phenotypically diverse, with a large number of potential disease-causing mutations and a phenotypic spectrum ranging from very slowly to very rapidly progressing disease...
January 1, 2017: Frontiers in Bioscience (Landmark Edition)
https://www.readbyqxmd.com/read/27774737/pharmacological-chaperoning-a-potential-treatment-for-pmm2-cdg
#19
Patricia Yuste-Checa, Sandra Brasil, Alejandra Gámez, Jarl Underhaug, Lourdes R Desviat, Magdalena Ugarte, Celia Pérez-Cerdá, Aurora Martinez, Belén Pérez
The congenital disorder of glycosylation (CDG) due to phosphomannomutase 2 deficiency (PMM2-CDG), the most common N-glycosylation disorder, is a multisystem disease for which no effective treatment is available. The recent functional characterization of disease-causing mutations described in patients with PMM2-CDG led to the idea of a therapeutic strategy involving pharmacological chaperones (PC) to rescue PMM2 loss-of-function mutations. The present work describes the high-throughput screening, by differential scanning fluorimetry, of 10,000 low-molecular-weight compounds from a commercial library, to search for possible PCs for the enzyme PMM2...
February 2017: Human Mutation
https://www.readbyqxmd.com/read/27759031/whole-exome-sequencing-identifies-novel-variants-in-pnpt1-causing-oxidative-phosphorylation-defects-and-severe-multisystem-disease
#20
Ahmad Alodaib, Nara Sobreira, Wendy A Gold, Lisa G Riley, Nicole J Van Bergen, Meredith J Wilson, Bruce Bennetts, David R Thorburn, Corinne Boehm, John Christodoulou
Recent advances in next-generation sequencing strategies have led to the discovery of many novel disease genes. We describe here a non-consanguineous family with two affected boys presenting with early onset of severe axonal neuropathy, optic atrophy, intellectual disability, auditory neuropathy and chronic respiratory and gut disturbances. Whole-exome sequencing (WES) was performed on all family members and we identified compound heterozygous variants (c.[760C>A];[1528G>C];p.[(Gln254Lys);(Ala510Pro)] in the polyribonucleotide nucleotidyltransferase 1 (PNPT1) gene in both affected individuals...
January 2016: European Journal of Human Genetics: EJHG
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