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https://www.readbyqxmd.com/read/29623892/deep-venous-thrombosis-treated-by-rivaroxaban-in-a-young-patient-with-type-ia-carbohydrate-deficient-glycoprotein-cdg-syndrome
#1
Bertrand Lefrère, Alain Stepanian, Nathalie Itzhar-Baïkian, Perrine Charles, Arezki Hadj-Ali, Bérangère Joly, Martine Alhenc-Gelas, Ludovic Drouet, Agnès Veyradier, Virginie Siguret
Congenital disorders of glycosylation (CDG) are rare inborn diseases of glycan component of N-glycosylated proteins. We report here the case of a 28-year-old patient with CDG syndrome type Ia, who presented with a deep venous thrombosis in the left suro-popliteal vein with no known triggers or antecedents. The patient was treated with rivaroxaban for six months. Blood tests performed after discontinuing anticoagulant treatment showed multiple abnormalities affecting the proteins involved in haemostasis (both coagulation factors and inhibitors), i...
April 1, 2018: Annales de Biologie Clinique
https://www.readbyqxmd.com/read/29606283/perspectives-on-glycosylation-and-its-congenital-disorders
#2
REVIEW
Bobby G Ng, Hudson H Freeze
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of metabolic disorders that result from abnormal protein or lipid glycosylation. They are often difficult to clinically diagnose because they broadly affect many organs and functions and lack clinical uniformity. However, recent technological advances in next-generation sequencing have revealed a treasure trove of new genetic disorders, expanded the knowledge of known disorders, and showed a critical role in infectious diseases. More comprehensive genetic tools specifically tailored for mammalian cell-based models have revealed a critical role for glycosylation in pathogen-host interactions, while also identifying new CDG susceptibility genes...
March 29, 2018: Trends in Genetics: TIG
https://www.readbyqxmd.com/read/29579191/glycosyltransferase-genes-that-cause-monogenic-congenital-disorders-of-glycosylation-are-distinct-from-glycosyltransferase-genes-associated-with-complex-diseases
#3
Hiren J Joshi, Lars Hansen, Yoshiki Narimatsu, Hudson H Freeze, Bernard Henrissat, Eric Bennett, Hans H Wandall, Henrik Clausen, Katrine T Schjoldager
Glycosylation of proteins, lipids and proteoglycans in human cells involves at least 167 identified glycosyltransferases (GTfs), and these orchestrate the biosynthesis of diverse types of glycoconjugates and glycan structures. Mutations in this part of the genome-the GTf-genome-cause more than 58 rare, monogenic congenital disorders of glycosylation (CDGs). They are also statistically associated with a large number of complex phenotypes, diseases or predispositions to complex diseases based on Genome-Wide Association Studies (GWAS)...
March 22, 2018: Glycobiology
https://www.readbyqxmd.com/read/29573151/more-than-just-sugars-cog-complex-deficiency-causes-glycosylation-independent-cellular-defects
#4
Jessica Bailey Blackburn, Tetyana Kudlyk, Irina Pokrovskaya, Vladimir V Lupashin
The Conserved Oligomeric Golgi (COG) complex controls membrane trafficking and ensures Golgi homeostasis by orchestrating retrograde vesicle trafficking within the Golgi. Human COG defects lead to severe multi-systemic diseases known as COG-Congenital Disorders of Glycosylation (COG-CDG). To gain better understanding of COG-CDGs we compared COG knockout cells to cells deficient to two key enzymes, Alpha-1,3-mannosyl-glycoprotein 2-beta-N-acetylglucosaminyltransferase (MGAT1) and UDP-glucose 4-epimerase (GALE), which contribute to proper N- and O-glycosylation...
March 23, 2018: Traffic
https://www.readbyqxmd.com/read/29547901/molecular-partners-of-hnot-alg3-the-human-counterpart-of-the-drosophila-not-and-yeast-alg3-gene-suggest-its-involvement-in-distinct-cellular-processes-relevant-to-congenital-disorders-of-glycosylation-cancer-neurodegeneration-and-a-variety-of-further-pathologies
#5
Benedikt Hacker, Christoph Schultheiß, Michael Döring, Ursula Kurzik-Dumke
This study provides first insights into the involvement of hNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, in various putative molecular networks. HNOT/ALG3 encodes two translated transcripts encoding precursor proteins differing in their N-terminus and showing 33% identity with the yeast asparagine-linked glycosylation 3 (ALG3) protein. Experimental evidence for the functional homology of the proteins of fly and man in the N-glycosylation has still to be provided. In this study, using the yeast two-hybrid technique we identify 17 molecular partners of hNOT-1/ALG3-1...
March 14, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29531722/a-novel-homozygous-mutation-in-the-mannose-phosphate-isomerase-gene-causing-congenital-disorder-of-glycation-and-hyperinsulinemic-hypoglycemia-in-an-infant
#6
Asma Deeb, Abdulla Al Amoodi
We report a 4 years girl with congenital disorders of glycosylation (CDG) type Ib due to a novel homozygous mutation in MPI gene. She presented with diazoxide-responsive hyperinsulinemic hypoglycemia. CDG should be considered in unexplained hypoglycemia particularly in consanguineous families. Diagnosis enables monitoring/prevention of disease comorbidities and early effective treatment.
March 2018: Clinical Case Reports
https://www.readbyqxmd.com/read/29528116/pharmacokinetics-studies-of-4-cyano-2-deoxyguanosine-a-potent-inhibitor-of-the-hepatitis-b-virus-in-rats
#7
Mai Hashimoto, Kazuaki Taguchi, Takako Ishiguro, Satoru Kohgo, Shuhei Imoto, Keishi Yamasaki, Hiroaki Mitsuya, Masaki Otagiri
OBJECTIVES: 4'-cyano-2'-deoxyguanosine (CdG), a novel nucleoside analogue, has a high degree of antiviral activity against the chronic hepatitis B virus (HBV). The objective of this study was to develop an analytical method for quantitatively determining CdG levels in biological samples by liquid chromatography-mass spectrometry (LC/MS) and to investigate the pharmacokinetic properties of CdG in rats after intravenous and oral administration. METHODS: An analytical method using a UPLC system interfaced with a TOF-MS system was developed and validated...
March 12, 2018: Journal of Pharmacy and Pharmacology
https://www.readbyqxmd.com/read/29502919/complex-phenotypes-in-inborn-errors-of-metabolism-overlapping-presentations-in-congenital-disorders-of-glycosylation-and-mitochondrial-disorders
#8
REVIEW
Thatjana Gardeitchik, Jeroen Wyckmans, Eva Morava
Congenital disorders of glycosylation (CDG) and mitochondrial disorders have overlapping clinical features, including central nervous system, cardiac, gastrointestinal, hepatic, muscular, endocrine, and psychiatric disease. Specific abnormalities orienting the clinician toward the right diagnostic approach include abnormal fat distribution, coagulation abnormalities, together with anticoagulation abnormalities, hyperinsulinism, and congenital malformations in CDG. Diabetes, sensorineural deafness, and depression are very rare in CDG but common in mitochondrial disease...
April 2018: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/29497882/clinical-glycomics-for-the-diagnosis-of-congenital-disorders-of-glycosylation
#9
Nurulamin Abu Bakar, Dirk J Lefeber, Monique van Scherpenzeel
Clinical glycomics comprises a spectrum of different analytical methodologies to analyze glycan structures, which provides insights into the mechanisms of glycosylation. Within clinical diagnostics, glycomics serves as a functional readout of genetic variants, and can form a basis for therapy development, as was described for PGM1-CDG. Integration of glycomics with genomics has resulted in the elucidation of previously unknown disorders of glycosylation, namely CCDC115-CDG, TMEM199-CDG, ATP6AP1-CDG, MAN1B1-CDG, and PGM1-CDG...
March 1, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29472449/nrf2-activation-attenuates-genetic-endoplasmic-reticulum-stress-induced-by-a-mutation-in-the-phosphomannomutase-2-gene-in-zebrafish
#10
Katsuki Mukaigasa, Tadayuki Tsujita, Vu Thanh Nguyen, Li Li, Hirokazu Yagi, Yuji Fuse, Yaeko Nakajima-Takagi, Koichi Kato, Masayuki Yamamoto, Makoto Kobayashi
Nrf2 plays critical roles in animals' defense against electrophiles and oxidative stress by orchestrating the induction of cytoprotective genes. We previously isolated the zebrafish mutant it768 , which displays up-regulated expression of Nrf2 target genes in an uninduced state. In this paper, we determine that the gene responsible for it768 was the zebrafish homolog of phosphomannomutase 2 (Pmm2), which is a key enzyme in the initial steps of N-glycosylation, and its mutation in humans leads to PMM2-CDG (congenital disorders of glycosylation), the most frequent type of CDG...
March 13, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29470411/stroke-like-episodes-and-cerebellar-syndrome-in-phosphomannomutase-deficiency-pmm2-cdg-evidence-for-hypoglycosylation-driven-channelopathy
#11
Mercè Izquierdo-Serra, Antonio F Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M Fernández-Fernández, Mercedes Serrano
Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV 2.1 channel). The underlying pathomechanisms are unknown. We analyze clinical variables to detect risk factors for SLE in a series of 43 PMM2-CDG patients. We explore the hypothesis of abnormal CaV 2.1 function due to aberrant N -glycosylation as a potential novel pathomechanism of SLE and ataxia in PMM2-CDG by using whole-cell patch-clamp, N -glycosylation blockade and mutagenesis...
February 22, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29453449/functional-analysis-of-slc39a8-mutations-and-their-implications-for-manganese-deficiency-and-mitochondrial-disorders
#12
Eun-Kyung Choi, Trang-Tiffany Nguyen, Neil Gupta, Shigeki Iwase, Young Ah Seo
SLC39A8 encodes ZIP8, a divalent metal ion transporter. Mutations in the SLC39A8 gene are associated with congenital disorder of glycosylation type II and Leigh syndrome. Notably, affected patients with both disorders exhibited severe manganese (Mn) deficiency. The cellular function of human SLC39A8 (hSLC39A8) and the mechanisms by which mutations in this protein lead to human diseases are unclear. Herein, we show that hSLC39A8 mediates54 Mn uptake by the cells, and its expression is regulated by Mn. While expression of wild-type hSLC39A8 increased54 Mn uptake activity, disease-associated mutations abrogated the ability of the transporter to mediate Mn uptake into the cells, thereby providing a causal link to severe Mn deficiency...
February 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29452609/screening-drugs-for-kidney-disease-targeting-the-podocyte
#13
Joshua S Bryer, Katalin Susztak
Podocytes cover the kidney glomerular basement membrane and present the final barrier in the renal filtration system. Podocyte loss, observed in most kidney diseases, correlates with kidney function decline. In this issue of Cell Chemical Biology, Seiber et al. (2018), using a high-throughput chemical screen, identified the compound CDG-0876, which improved podocyte survival.
February 15, 2018: Cell Chemical Biology
https://www.readbyqxmd.com/read/29408683/aberrant-apolipoprotein-c-iii-glycosylation-in-glycogen-storage-disease-type-iii-and-ix
#14
Nina Ondruskova, Tomas Honzik, Hana Kolarova, Zuzana Pakanova, Jan Mucha, Jiri Zeman, Hana Hansikova
INTRODUCTION: Apolipoprotein C-III (ApoC-III) is a mostly liver-derived serum O-glycoprotein, which is used, along with an N-glycoprotein transferrin (TF), as a marker in the biochemical screening for congenital disorders of glycosylation (CDG). However, it is increasingly evident that secondary glycosylation abnormalities might occur in other, non-CDG metabolic diseases. MATERIAL AND METHODS: Here we examined the glycosylation status of serum TF and Apo-CIII by isoelectric focusing, SDS-PAGE and MALDI TOF mass spectrometry in our group of 24 patients with various types of glycogen storage disorders (GSD; types 0, Ia, nonIa, III and IX)...
February 1, 2018: Metabolism: Clinical and Experimental
https://www.readbyqxmd.com/read/29396028/cutis-laxa-exocrine-pancreatic-insufficiency-and-altered-cellular-metabolomics-as-additional-symptoms-in-a-new-patient-with-atp6ap1-cdg
#15
Bianca Dimitrov, Nastassja Himmelreich, Agnes L Hipgrave Ederveen, Christian Lüchtenborg, Jürgen G Okun, Maximilian Breuer, Anna-Marlen Hutter, Matthias Carl, Luca Guglielmi, Andrea Hellwig, Kai Christian Thiemann, Markus Jost, Verena Peters, Christian Staufner, Georg F Hoffmann, Annette Hackenberg, Nagarajan Paramasivam, Stefan Wiemann, Roland Eils, Matthias Schlesner, Sabine Strahl, Britta Brügger, Manfred Wuhrer, G Christoph Korenke, Christian Thiel
Congenital disorders of glycosylation (CDG) are genetic defects in the glycoconjugate biosynthesis. >100 types of CDG are known, most of them cause multi-organ diseases. Here we describe a boy whose leading symptoms comprise cutis laxa, pancreatic insufficiency and hepatosplenomegaly. Whole exome sequencing identified the novel hemizygous mutation c.542T>G (p.L181R) in the X-linked ATP6AP1, an accessory protein of the mammalian vacuolar H+-ATPase, which led to a general N-glycosylation deficiency. Studies of serum N-glycans revealed reduction of complex sialylated and appearance of truncated diantennary structures...
January 27, 2018: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29392584/keeping-an-eye-on-congenital-disorders-of-o-glycosylation-a-systematic-literature-review
#16
REVIEW
R Francisco, C Pascoal, D Marques-da-Silva, E Morava, G A Gole, D Coman, J Jaeken, Vanessa Dos Reis Ferreira
Congenital disorders of glycosylation (CDG) are a rapidly growing family comprising >100 genetic diseases. Some 25 CDG are pure O-glycosylation defects. Even among this CDG subgroup, phenotypic diversity is broad, ranging from mild to severe poly-organ/system dysfunction. Ophthalmic manifestations are present in 60% of these CDG. The ophthalmic manifestations in N-glycosylation-deficient patients have been described elsewhere. The present review documents the spectrum and incidence of eye disorders in patients with pure O-glycosylation defects with the aim of assisting diagnosis and management and promoting research...
February 1, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29360708/screening-internal-contamination-of-inhaled-and-ingested-radionuclides-with-hand-held-survey-meters
#17
Tim G Adams, Rocco Casagrande
During the aftermath of a radiological accident or attack, the rapid identification of individuals who have internalized medically significant amounts of material is paramount to guide medical and public health decisions. This paper explores the utility of hand-held, pancake GM detectors to determine if an individual has inhaled Sr, Cs, Pu, Pu, or Am in quantities requiring treatment. Additionally, ingestion of Sr or Cs was considered. Both Sr and Cs were modeled in equilibrium with their progeny, but the progeny of Pu, Pu, and Am were excluded...
March 2018: Health Physics
https://www.readbyqxmd.com/read/29321044/three-unreported-cases-of-tmem199-cdg-a-rare-genetic-liver-disease-with-abnormal-glycosylation
#18
Pietro Vajro, Katarzyna Zielinska, Bobby G Ng, Marco Maccarana, Per Bengtson, Marco Poeta, Claudia Mandato, Elisa D'Acunto, Hudson H Freeze, Erik A Eklund
BACKGROUND: TMEM199 deficiency was recently shown in four patients to cause liver disease with steatosis, elevated serum transaminases, cholesterol and alkaline phosphatase and abnormal protein glycosylation. There is no information on the long-term outcome in this disorder. RESULTS: We here present three novel patients with TMEM199-CDG. All three patients carried the same set of mutations (c.13-14delTT (p.Ser4Serfs*30) and c.92G > C (p.Arg31Pro), despite only two were related (siblings)...
January 10, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29316339/reply
#19
LETTER
R Hal Scofield, Rohan Sharma, Valerie M Harris
No abstract text is available yet for this article.
April 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29304374/biallelic-mutations-in-fut8-cause-a-congenital-disorder-of-glycosylation-with-defective-fucosylation
#20
Bobby G Ng, Gege Xu, Nandini Chandy, Joan Steyermark, Deepali N Shinde, Kelly Radtke, Kimiyo Raymond, Carlito B Lebrilla, Ali AlAsmari, Sharon F Suchy, Zöe Powis, Eissa Ali Faqeih, Susan A Berry, David F Kronn, Hudson H Freeze
Fucosyltransferase 8 (FUT8) encodes a Golgi-localized α1,6 fucosyltransferase that is essential for transferring the monosaccharide fucose into N-linked glycoproteins, a process known as "core fucosylation." Here we describe three unrelated individuals, who presented with intrauterine growth retardation, severe developmental and growth delays with shortened limbs, neurological impairments, and respiratory complications. Each underwent whole-exome sequencing and was found to carry pathogenic variants in FUT8...
January 4, 2018: American Journal of Human Genetics
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