keyword
MENU ▼
Read by QxMD icon Read
search

CDG

keyword
https://www.readbyqxmd.com/read/29453449/functional-analysis-of-slc39a8-mutations-and-their-implications-for-manganese-deficiency-and-mitochondrial-disorders
#1
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 mediates 54 Mn uptake by the cells, and its expression is regulated by Mn. While expression of wild-type hSLC39A8 increased 54 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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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-x-chromosome-short-arm-involvement-in-autoimmune-diseases-comment-on-the-report-by-sharma-et-al
#8
R Hal Scofield, Rohan Sharma, Valerie M Harris
Studying Klinefelter's syndrome (male 47,XXY) and triple X (female 4,7XXX), we propose that the number of X chromosomes mediates the female bias of systemic lupus erythematosus (SLE) and Sjögren's syndrome (SS). Our recent paper described SLE and SS patients with extremely rare X chromosome aneuploides in which distal Xp was triplicated, implicating genes lying on the short arm of X1 . Brooks points out that X-linked chronic granulomatosus disease (X-CGD) can also have gene duplication from Xp21.2 to Xp terminus, and some female carriers of X-CDG have a cutaneous lupus-like illness...
January 5, 2018: Arthritis & Rheumatology
https://www.readbyqxmd.com/read/29304374/biallelic-mutations-in-fut8-cause-a-congenital-disorder-of-glycosylation-with-defective-fucosylation
#9
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
https://www.readbyqxmd.com/read/29303575/a-radical-intermediate-in-bacillus-subtilis-quee-during-turnover-with-the-substrate-analog-6-carboxypterin
#10
Jarett Wilcoxen, Nathan A Bruender, Vahe Bandarian, R David Britt
7-Carboxy-7-deazaguanine (CDG) synthase (QueE), a member of the radical S-deoxyadenosyl-L-methionine (SAM) superfamily of enzymes, catalyzes a radical-mediated ring rearrangement required to convert 6-carboxy-5,6,7,8-tetrahydropterin (CPH4) into CDG, forming the 7-dezapurine precursor to all pyrrolopyrimidine metabolites. Members of the radical SAM superfamily bind SAM to a [4Fe-4S] cluster, leveraging the reductive cleavage of SAM by the cluster to produce a highly reactive 5-deoxyadenosyl radical which initiates chemistry by H-atom abstraction from the substrate...
January 5, 2018: Journal of the American Chemical Society
https://www.readbyqxmd.com/read/29261720/a-mutant-of-phosphomannomutase1-retains-full-enzymatic-activity-but-is-not-activated-by-imp-possible-implications-for-the-disease-pmm2-cdg
#11
Valentina Citro, Chiara Cimmaruta, Ludovica Liguori, Gaetano Viscido, Maria Vittoria Cubellis, Giuseppina Andreotti
The most frequent disorder of glycosylation, PMM2-CDG, is caused by a deficiency of phosphomannomutase activity. In humans two paralogous enzymes exist, both of them require mannose 1,6-bis-phosphate or glucose 1,6-bis-phosphate as activators, but only phospho-mannomutase1 hydrolyzes bis-phosphate hexoses. Mutations in the gene encoding phosphomannomutase2 are responsible for PMM2-CDG. Although not directly causative of the disease, the role of the paralogous enzyme in the disease should be clarified. Phosphomannomutase1 could have a beneficial effect, contributing to mannose 6-phosphate isomerization, or a detrimental effect, hydrolyzing the bis-phosphate hexose activator...
2017: PloS One
https://www.readbyqxmd.com/read/29235540/characteristic-dysmorphic-features-in-congenital-disorders-of-glycosylation-type-iib
#12
Yoon-Myung Kim, Go Hun Seo, Euiseok Jung, Ja-Hyun Jang, Sook Za Kim, Beom Hee Lee
Over 100 types of congenital disorders of glycosylation (CDG) have been reported and the number is rapidly increasing. However, each type is very rare and is problematic to diagnose. Mannosyl-oligosaccharide glucosidase (MOGS)-CDG (CDG type IIb) is an extremely rare CDG that has only been reported in three patients from two unrelated families. Using targeted exome sequencing, we identified another patient affected by this condition. This patient had increased serum trisialotransferrin levels. Importantly, a review of the features of all four patients revealed the recognizable clinical hallmarks of MOGS-CDG...
December 13, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/29229467/renal-involvement-in-pmm2-cdg-a-mini-review
#13
REVIEW
Ruqaiah Altassan, Peter Witters, Zubaida Saifudeen, Dulce Quelhas, Jaak Jaeken, Elena Levtchenko, David Cassiman, Eva Morava
Phosphomannomutase 2 deficiency (PMM2-CDG) is the most common N-linked glycosylation disorder. The majority of patients present with a multisystem phenotype, including central nervous system involvement, hepatopathy, gastrointestinal and cardiac symptoms, endocrine dysfunction and abnormal coagulation. Renal abnormalities including congenital malformations and altered renal function are part of the multisystem manifestations of congenital disorders of glycosylation. We reviewed the literature on 933 patients with molecularly and/or enzymatically confirmed PMM2 deficiency to evaluate the incidence of renal involvement in PMM2-CDG...
November 28, 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/29221866/a-capillary-zone-electrophoresis-method-for-detection-of-apolipoprotein-c-iii-glycoforms-and-other-related-artifactually-modified-species
#14
Coralie Ruel, Marco Morani, Arnaud Bruneel, Christophe Junot, Myriam Taverna, François Fenaille, Thuy Tran
ApolipoproteinC-III (ApoC-III) is a human plasma glycoprotein whose O-glycosylation can be altered as a result of congenital disorders of glycosylation (CDG). ApoC-III exhibits three major glycoforms whose relative quantification is of utmost importance for the diagnosis of CDG patients. Considering the very close structures of these glycoforms and their tendency to adsorb on the capillary, a thorough optimization of capillary electrophoresis (CE) parameters including preconditioning and in-between rinsing procedures was required to efficiently separate all the ApoC-III glycoforms...
December 5, 2017: Journal of Chromatography. A
https://www.readbyqxmd.com/read/29147070/evidences-of-a-new-psychobiotic-formulation-on-body-composition-and-anxiety
#15
Carmela Colica, Ennio Avolio, Patrizio Bollero, Renata Costa de Miranda, Simona Ferraro, Paola Sinibaldi Salimei, Antonino De Lorenzo, Laura Di Renzo
Background: Gut microbiota is implied in obesity, because of its ability to harvest energy from diet, and in the regulation of behavior. Given the link between gut microbiota, body composition, obesity, and anxiety, the aim of this study was to evaluate the effects of a new psychobiotic formulation. Methods: Eligible patients were randomly divided into three groups: psychobiotics oral suspension group (POSG); dietary treatment group (DTG); combined treatment group (CTG)...
2017: Mediators of Inflammation
https://www.readbyqxmd.com/read/29113899/neurosurgery-in-octogenarians-a-prospective-study-of-perioperative-morbidity-mortality-and-complications-in-elderly-patients
#16
Nicolai Maldaner, Johannes Sarnthein, Oliver Bozinov, Luca Regli, Marian Christoph Neidert
OBJECTIVE: The aging population in industrialized countries shifts the age limit for neurosurgical interventions toward increasingly older patients. This study investigates whether octogenarians (≥80 years) stand out in outcome and incidence of perioperative complications. METHODS: Consecutive patients ≥80 years operated on between January 2013 and August 2016 were compared against a control group of patients aged 55-75 years matched by indication for surgery...
November 4, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29112118/nutritional-therapies-in-congenital-disorders-of-glycosylation-cdg
#17
REVIEW
Peter Witters, David Cassiman, Eva Morava
Congenital disorders of glycosylation (CDG) are a group of more than 130 inborn errors of metabolism affecting N-linked, O-linked protein and lipid-linked glycosylation. The phenotype in CDG patients includes frequent liver involvement, especially the disorders belonging to the N-linked protein glycosylation group. There are only a few treatable CDG. Mannose-Phosphate Isomerase (MPI)-CDG was the first treatable CDG by high dose mannose supplements. Recently, with the successful use of d-galactose in Phosphoglucomutase 1 (PGM1)-CDG, other CDG types have been trialed on galactose and with an increasing number of potential nutritional therapies...
November 7, 2017: Nutrients
https://www.readbyqxmd.com/read/29109063/patients-with-a-normal-pressure-hydrocephalus-shunt-have-fewer-complications-than-do-patients-with-other-shunts
#18
Pascale Schenker, Lennart H Stieglitz, Beate Sick, Martin N Stienen, Luca Regli, Johannes Sarnthein
BACKGROUND: Ventriculoperitoneal (VP) shunting is a well-established therapy for hydrocephalus. However, complications are frequent. The incidence of idiopathic normal pressure hydrocephalus (NPH) increases with the aging of the population. We evaluated the functional status of patients and the classification of complications associated with VP shunt procedures in our center. METHODS: We recorded all VP shunt procedures in our prospective patient registry from January 2013 to December 2015...
November 23, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29079546/congenital-disorders-of-glycosylation-cdg-quo-vadis
#19
REVIEW
Romain Péanne, Pascale de Lonlay, François Foulquier, Uwe Kornak, Dirk J Lefeber, Eva Morava, Belén Pérez, Nathalie Seta, Christian Thiel, Emile Van Schaftingen, Gert Matthijs, Jaak Jaeken
The survey summarizes in its first part the current status of knowledge on the Congenital Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and therapeutic strategies, and pathophysiology. It documents the clinical and basic research activities, and efforts to involve patients and their families. In the second part, it tries to look into the future of CDG. More specific biomarkers are needed for fast CDG diagnosis and treatment monitoring. Whole genome sequencing will play an increasingly important role in the molecular diagnosis of unsolved CDG...
October 24, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29063274/conserved-oligomeric-golgi-and-neuronal-vesicular-trafficking
#20
Leslie K Climer, Rachel D Hendrix, Vladimir V Lupashin
The conserved oligomeric Golgi (COG) complex is an evolutionary conserved multi-subunit vesicle tethering complex essential for the majority of Golgi apparatus functions: protein and lipid glycosylation and protein sorting. COG is present in neuronal cells, but the repertoire of COG function in different Golgi-like compartments is an enigma. Defects in COG subunits cause alteration of Golgi morphology, protein trafficking, and glycosylation resulting in human congenital disorders of glycosylation (CDG) type II...
October 21, 2017: Handbook of Experimental Pharmacology
keyword
keyword
27275
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"