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Congenital disorders of glycosylation

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https://www.readbyqxmd.com/read/28323990/galactose-supplementation-in-tmem165-cdg-patients-rescues-the-glycosylation-defects
#1
Willy Morelle, Sven Potelle, Peter Witters, Sunnie Wong, Leslie Climer, Vladimir Lupashin, Gert Matthijs, Therese Gadomski, Jaak Jaeken, David Cassiman, Eva Morava, François Foulquier
Context: TMEM165 deficiency is a severe multisystem disease that manifests with metabolic, endocrine and skeletal involvement. It leads to one type of congenital disorders of glycosylation (CDG), a rapidly growing group of inherited diseases where the glycosylation process is altered. Patients have decreased galactosylation by serum glycan analysis. There are over one hundred CDGs but only specific types are treatable. Objective: Galactose has been shown to be beneficial in other CDG types with abnormal galactosylation...
January 9, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28300031/epileptic-spasms-in-congenital-disorders-of-glycosylation
#2
Andreia G Pereira, Nadia Bahi-Buisson, Christine Barnerias, Nathalie Boddaert, Rima Nabbout, Pascale de Lonlay, Anna Kaminska, Monika Eisermann
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation of proteins and lipids. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare. We describe, retrospectively, the electroclinical features in five children with CDG syndrome and epileptic spasms. Epileptic spasms were observed in patients with CDG Ik, Ic, Ix, and Ip subtypes, and occurred at an early age, before 6 months in all cases, except one who had spasms that started at 18 months...
March 14, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28270545/manganese-induced-turnover-of-tmem165
#3
Sven Potelle, Eudoxie Dulary, Leslie Climer, Sandrine Duvet, Willy Morelle, Dorothée Vicogne, Elodie Lebredonchel, Marine Houdou, Corentin Spriet, Marie-Ange Krzewinski-Recchi, Romain Peanne, André Klein, Geoffroy DE Bettignies, Pierre Morsomme, Gert Matthijs, Thorsten Marquardt, Vladimir Lupashin, Francois Foulquier
TMEM165 deficiencies lead to one of the Congenital Disorders of Glycosylation (CDG), a group of inherited diseases where the glycosylation process is altered. We recently demonstrated that the Golgi glycosylation defect due to TMEM165 deficiency resulted from Golgi manganese homeostasis defect and that Mn2+ supplementation was sufficient to rescue normal glycosylation. In this paper we highlight TMEM165 as a novel Golgi protein sensitive to manganese. When cells were exposed to high Mn2+ concentrations, TMEM165 was degraded in lysosomes...
March 7, 2017: Biochemical Journal
https://www.readbyqxmd.com/read/28253385/association-of-steroid-5%C3%AE-reductase-type-3-congenital-disorder-of-glycosylation-with-early-onset-retinal-dystrophy
#4
Rachel L Taylor, Gavin Arno, James A Poulter, Kamron N Khan, Jiten Morarji, Sarah Hull, Nikolas Pontikos, Antonio Rueda Martin, Katherine R Smith, Manir Ali, Carmel Toomes, Martin McKibbin, Jill Clayton-Smith, Stephanie Grunewald, Michel Michaelides, Anthony T Moore, Alison J Hardcastle, Chris F Inglehearn, Andrew R Webster, Graeme C Black
Importance: Steroid 5α-reductase type 3 congenital disorder of glycosylation (SRD5A3-CDG) is a rare disorder of N-linked glycosylation. Its retinal phenotype is not well described but could be important for disease recognition because it appears to be a consistent primary presenting feature. Objective: To investigate a series of patients with the same mutation in the SRD5A3 gene and thereby characterize its retinal manifestations and other associated features. Design, Setting and Participants: Seven affected individuals from 4 unrelated families with early-onset retinal dystrophy as a primary manifestation underwent comprehensive ophthalmic assessment, including retinal imaging and electrodiagnostic testing...
March 2, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28247339/galactose-epimerase-deficiency-expanding-the-phenotype
#5
Filipa Dias Costa, Sacha Ferdinandusse, Carla Pinto, Andrea Dias, Liesbeth Keldermans, Dulce Quelhas, Gert Matthijs, Petra A Mooijer, Luísa Diogo, Jaak Jaeken, Paula Garcia
Galactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4'-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical studies in two siblings with generalized GALE deficiency.Patient 1: The first child was born with a dysmorphic syndrome. Failure to thrive was noticed during the first year. Episodes of heart failure due to dilated cardiomyopathy, followed by liver failure, occurred between 12 and 42 months. The finding of a serum transferrin isoelectrofocusing (IEF) type 1 pattern led to the suspicion of a congenital disorder of glycosylation (CDG)...
March 1, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28236367/comparison-of-transferrin-isoform-analysis-by-capillary-electrophoresis-and-hplc-for-screening-congenital-disorders-of%C3%A2-glycosylation
#6
Mihika B Dave, Alpa J Dherai, Vrajesh P Udani, Anaita U Hegde, Neelu A Desai, Tester F Ashavaid
BACKGROUND: Transferrin, a major glycoprotein has different isoforms depending on the number of sialic acid residues present on its oligosaccharide chain. Genetic variants of transferrin as well as the primary (CDG) & secondary glycosylation defects lead to an altered transferrin pattern. Isoform analysis methods are based on charge/mass variations. We aimed to compare the performance of commercially available capillary electrophoresis CDT kit for diagnosing congenital disorders of glycosylation with our in-house optimized HPLC method for transferrin isoform analysis...
February 25, 2017: Journal of Clinical Laboratory Analysis
https://www.readbyqxmd.com/read/28218252/dissecting-the-molecular-organization-of-the-translocon-associated-protein-complex
#7
Stefan Pfeffer, Johanna Dudek, Miroslava Schaffer, Bobby G Ng, Sahradha Albert, Jürgen M Plitzko, Wolfgang Baumeister, Richard Zimmermann, Hudson H Freeze, Benjamin D Engel, Friedrich Förster
In eukaryotic cells, one-third of all proteins must be transported across or inserted into the endoplasmic reticulum (ER) membrane by the ER protein translocon. The translocon-associated protein (TRAP) complex is an integral component of the translocon, assisting the Sec61 protein-conducting channel by regulating signal sequence and transmembrane helix insertion in a substrate-dependent manner. Here we use cryo-electron tomography (CET) to study the structure of the native translocon in evolutionarily divergent organisms and disease-linked TRAP mutant fibroblasts from human patients...
February 20, 2017: Nature Communications
https://www.readbyqxmd.com/read/28216230/activation-of-a-cryptic-splice-site-in-the-mitochondrial-elongation-factor-gfm1-causes-combined-oxphos-deficiency
#8
Mariella T Simon, Bobby G Ng, Marisa W Friederich, Raymond Y Wang, Monica Boyer, Martin Kircher, Renata Collard, Kati J Buckingham, Richard Chang, Jay Shendure, Deborah A Nickerson, Michael J Bamshad, Johan L K Van Hove, Hudson H Freeze, Jose E Abdenur
We report the clinical, biochemical, and molecular findings in two brothers with encephalopathy and multi-systemic disease. Abnormal transferrin glycoforms were suggestive of a type I congenital disorder of glycosylation (CDG). While exome sequencing was negative for CDG related candidate genes, the testing revealed compound heterozygous mutations in the mitochondrial elongation factor G gene (GFM1). One of the mutations had been reported previously while the second, novel variant was found deep in intron 6, activating a cryptic splice site...
February 12, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28190645/pgm1-deficiency-substrate-use-during-exercise-and-effect-of-treatment-with-galactose
#9
N C Voermans, N Preisler, K L Madsen, M C H Janssen, B Kusters, N Abu Bakar, F Conte, V M L Lamberti, F Nusman, B G van Engelen, M van Scherpenzeel, J Vissing, D J Lefeber
Mutations in PGM1 (phosphoglucomutase 1) cause Glycogen Storage Disease type XIV, which is also a congenital disorder of protein N-glycosylation. It presents throughout life as myopathy with additional systemic symptoms. We report the effect of oral galactose treatment during five months in a patient with biochemically and genetically confirmed PGM1 deficiency. The 12-minute-walking distance increased by 225 m (65%) and transferrin glycosylation was restored to near-normal levels. The exercise assessments showed a severe exercise intolerance due to a block in skeletal muscle glycogenolytic capacity and that galactose treatment tended to normalize skeletal muscle substrate use from fat to carbohydrates during exercise...
January 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28182562/in-silico-modeling-of-the-functional-role-of-reduced-sialylation-in-sodium-and-potassium-channel-gating-of-mouse-ventricular-myocytes
#10
Dongping Du, Hui Yang, Andrew R Ednie, Eric S Bennett
Cardiac ion channels are highly glycosylated membrane proteins, with up to 30% of the protein's mass containing glycans. Heart diseases often accompany individuals with congenital disorders of glycosylation (CDG). However, cardiac dysfunction among CDG patients is not yet fully understood. There is an urgent need to study how aberrant glycosylation impacts cardiac electrical signaling. Our previous works reported that congenitally reduced sialylation achieved through deletion of the sialyltransferase gene, ST3Gal4, leads to altered gating of voltage-gated Na+ and K+ channels (Nav and Kv, respectively)...
February 6, 2017: IEEE Journal of Biomedical and Health Informatics
https://www.readbyqxmd.com/read/28165356/n-glycoprofiling-analysis-for-carbohydrate-composition-and-site-occupancy-determination-in-a-poly-glycosylated-protein-human-thyrotropin-of-different-origins
#11
Maria Teresa C P Ribela, Renata Damiani, Felipe D Silva, Eliana R Lima, João E Oliveira, Cibele N Peroni, Peter A Torjesen, Carlos R Soares, Paolo Bartolini
Human thyrotropin (hTSH) is a glycoprotein with three potential glycosylation sites: two in the α-subunit and one in the β-subunit. These sites are not always occupied and occupancy is frequently neglected in glycoprotein characterization, even though it is related to folding, trafficking, initiation of inflammation and host defense, as well as congenital disorders of glycosylation (CDG). For the first time N-glycoprofiling analysis was applied to the site-occupancy determination of two native pituitary hTSH, in comparison with three recombinant preparations of hTSH, a widely used biopharmaceutical...
February 3, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28157257/compound-heterozygous-pomt1-mutations-in-a-chinese-family-with-autosomal-recessive-muscular-dystrophy-dystroglycanopathy-c1
#12
Pengzhi Hu, Song Wu, Lamei Yuan, Qiongfen Lin, Wen Zheng, Hong Xia, Hongbo Xu, Liping Guan, Hao Deng
Muscular dystrophy-dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders, characterized by congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy accompanied by brain and ocular abnormalities, resulting from aberrant alpha-dystroglycan glycosylation. Exome sequencing and Sanger sequencing were performed on a six-generation consanguineous Han Chinese family, members of which had autosomal recessive MDDG. Compound heterozygous mutations, c.1338+1G>A (p...
February 3, 2017: Journal of Cellular and Molecular Medicine
https://www.readbyqxmd.com/read/28139241/a-population-based-study-on-congenital-disorders-of-protein-n-and-combined-with-o-glycosylation-experience-in-clinical-and-genetic-diagnosis
#13
Celia Pérez-Cerdá, Ma Luisa Girós, Mercedes Serrano, M Jesús Ecay, Laura Gort, Belén Pérez Dueñas, Celia Medrano, Alfredo García-Alix, Rafael Artuch, Paz Briones, Belén Pérez
OBJECTIVE: To describe the clinical, biochemical, and genetic features of patients with congenital disorders of glycosylation (CDG) identified in Spain during the last 20 years. STUDY DESIGN: Patients were selected among those presenting with multisystem disease of unknown etiology. The isoforms of transferrin and of ApoC3 and dolichols were analyzed in serum; phosphomannomutase and mannosephosphate isomerase activities were measured in fibroblasts. Conventional or massive parallel sequencing (customized panel or Illumina Clinical-Exome Sequencing TruSight One Gene Panel) was used to identify genes and mutations...
January 27, 2017: Journal of Pediatrics
https://www.readbyqxmd.com/read/28122681/phenotypic-and-genotypic-spectrum-of-congenital-disorders-of-glycosylation-type-i-and-type-ii
#14
Amal Al Teneiji, Theodora U J Bruun, Sarah Sidky, Dawn Cordeiro, Ronald D Cohn, Roberto Mendoza-Londono, Mahendranath Moharir, Julian Raiman, Komudi Siriwardena, Lianna Kyriakopoulou, Saadet Mercimek-Mahmutoglu
BACKGROUND: Congenital disorders of glycosylation (CDG) are inborn defects of glycan metabolism. They are multisystem disorders. Analysis of transferrin isoforms is applied as a screening test for CDG type I (CDG-I) and type II (CDG-II). We performed a retrospective cohort study to determine spectrum of phenotype and genotype and prevalence of the different subtypes of CDG-I and CDG-II. MATERIAL AND METHODS: All patients with CDG-I and CDG-II evaluated in our institution's Metabolic Genetics Clinics were included...
March 2017: Molecular Genetics and Metabolism
https://www.readbyqxmd.com/read/28114750/acidic-and-uncharged-polar-residues-in-the-consensus-motifs-of-the-yeast-ca-2-transporter-gdt1p-are-required-for-calcium-transport
#15
Anne-Sophie Colinet, Louise Thines, Antoine Deschamps, Gaëlle Flémal, Didier Demaegd, Pierre Morsomme
The UPF0016 family is a recently identified group of poorly characterized membrane proteins whose function is conserved through evolution and that are defined by the presence of one or two copies of the E-ϕ-G-D-[KR]-[TS] consensus motif in their transmembrane domain. We previously showed that two members of this family, the human TMEM165 and the budding yeast Gdt1p, are functionally related and are likely to form a new group of Ca(2+) transporters. Mutations in TMEM165 have been demonstrated to cause a new type of rare human genetic diseases denominated as Congenital Disorders of Glycosylation...
January 23, 2017: Cellular Microbiology
https://www.readbyqxmd.com/read/28108845/liver-involvement-in-congenital-disorders-of-glycosylation-cdg-a-systematic-review-of-the-literature
#16
REVIEW
D Marques-da-Silva, V Dos Reis Ferreira, M Monticelli, P Janeiro, P A Videira, P Witters, J Jaeken, D Cassiman
Congenital disorders of glycosylation (CDG) are a rapidly growing family of genetic diseases caused by defects in glycosylation. Nearly 100 CDG types are known so far. Patients present a great phenotypic diversity ranging from poly- to mono-organ/system involvement and from very mild to extremely severe presentation. In this literature review, we summarize the liver involvement reported in CDG patients. Although liver involvement is present in only a minority of the reported CDG types (22 %), it can be debilitating or even life-threatening...
January 20, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28088503/evidence-for-splice-transcript-variants-of-tmem165-a-gene-involved-in-cdg
#17
Marie-Ange Krzewinski-Recchi, Sven Potelle, Anne-Marie Mir, Dorothée Vicogne, Eudoxie Dulary, Sandrine Duvet, Willy Morelle, Geoffroy de Bettignies, François Foulquier
BACKGROUND: Defects in TMEM165 gene cause a type-II Congenital Disorder of Glycosylation affecting Golgi glycosylation processes. TMEM165 patients exhibit psychomotor retardation, important osteoporosis, scoliosis, irregular epiphyses and thin bone cortex. TMEM165 protein is highly conserved in evolution and belongs to the family of UPF0016 membrane proteins which could be an unique group of Ca(2+)/H(+) antiporters regulating Ca(2+) and pH homeostasis and mainly localized in the Golgi apparatus...
April 2017: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/28078493/false-positive-newborn-screen-using-the-beutler-spot-assay-for-galactosemia-in-glucose-6-phosphate-dehydrogenase-deficiency
#18
Grace Stuhrman, Stefanie J Perez Juanazo, Kea Crivelly, Jennifer Smith, Hans Andersson, Eva Morava
Classical galactosemia is detected through newborn screening by measuring galactose-1-phosphate uridylyltransferase (GALT) in the USA primarily via the Beutler spot assay. We report on an 18-month-old patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency that was originally diagnosed with classical galactosemia. The patient presented with elevated liver function enzymes and bilirubinemia and was immediately treated with soy-based formula. Confirmatory tests revealed deficiency of the GALT enzyme, however, full-sequencing of GALT was normal, suggestive of a different ideology...
January 12, 2017: JIMD Reports
https://www.readbyqxmd.com/read/28073185/congenital-disorders-of-glycosylation-a-pipeline-to-treatment
#19
Brian M Gilfix
No abstract text is available yet for this article.
February 2017: Human Mutation
https://www.readbyqxmd.com/read/28050582/data-on-the-phosphorylation-state-of-the-catalytic-serine-of-enzymes-in-the-%C3%AE-d-phosphohexomutase-superfamily
#20
Yingying Lee, Cristina Furdui, Lesa J Beamer
Most enzymes in the α-D-phosphohexomutase superfamily catalyze the reversible conversion of 1- to 6-phosphosugars. They play important roles in carbohydrate and sugar nucleotide metabolism, and participate in the biosynthesis of polysaccharides, glycolipids, and other exoproducts. Mutations in genes encoding these enzymes are associated with inherited metabolic diseases in humans, including glycogen storage disease and congenital disorders of glycosylation. Enzymes in the superfamily share a highly conserved active site serine that participates in the multi-step phosphoryl transfer reaction...
February 2017: Data in Brief
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