Page last updated: 2024-08-22

manganese and Carbohydrate-Deficient Glycoprotein Syndrome

manganese has been researched along with Carbohydrate-Deficient Glycoprotein Syndrome in 7 studies

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's0 (0.00)29.6817
2010's3 (42.86)24.3611
2020's4 (57.14)2.80

Authors

AuthorsStudies
Climer, L; Foulquier, F; Garat, A; Houdou, M; Lupashin, V; Morelle, W; Vicogne, D1
Foulquier, F; Legrand, D1
Biskup, S; Cummings, RD; Elias, AF; Fobker, M; Grüneberg, M; Haven, J; Hoffmann, S; Mangels, U; Marquardt, T; Mealer, RG; Park, JH; Reunert, J; Rust, S; Schoof, J; Schwanke, C; Smoller, JW1
Alessandrì, MG; Barone, R; Battini, R; Bonaventura, E; Cioni, G; Garavaglia, B; Panteghini, C; Pasquariello, R; Pinto, AM; Renieri, A; Sturiale, L1
Beaulieu, CL; Biskup, S; Boycott, KM; DuChesne, I; Fiedler, B; Gleixner, EM; Grüneberg, M; Hogrebe, M; Hörtnagel, K; Innes, AM; Kurlemann, G; Marquardt, T; Mhanni, AA; Nebert, DW; Omran, H; Park, JH; Reunert, J; Rust, S; Rutsch, F; Santer, R; Schlingmann, KP; Tsiakas, K; von der Heiden, AL; Wada, Y1
De Bettignies, G; Dulary, E; Duvet, S; Foulquier, F; Jaeken, J; Krzewinski-Recchi, MA; Matthijs, G; Morelle, W; Morsomme, P; Potelle, S; Spriet, C; Vicogne, D1
Bahlo, M; Balasubramaniam, S; Christodoulou, J; Cowley, MJ; Gayevskiy, V; Prelog, K; Riley, LG; Roscioli, T; Sue, CM; Thorburn, DR1

Reviews

1 review(s) available for manganese and Carbohydrate-Deficient Glycoprotein Syndrome

ArticleYear
Biometals and glycosylation in humans: Congenital disorders of glycosylation shed lights into the crucial role of Golgi manganese homeostasis.
    Biochimica et biophysica acta. General subjects, 2020, Volume: 1864, Issue:10

    Topics: Animals; Antiporters; Biological Transport; Cation Transport Proteins; Congenital Disorders of Glycosylation; Glycosylation; Golgi Apparatus; Homeostasis; Humans; Manganese

2020

Other Studies

6 other study(ies) available for manganese and Carbohydrate-Deficient Glycoprotein Syndrome

ArticleYear
Fetal bovine serum impacts the observed N-glycosylation defects in TMEM165 KO HEK cells.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:2

    Topics: Antiporters; Calcium; Cation Transport Proteins; Congenital Disorders of Glycosylation; Glycosylation; Golgi Apparatus; HEK293 Cells; Humans; Ion Transport; Manganese; Serum Albumin, Bovine

2020
N-glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency.
    Journal of inherited metabolic disease, 2020, Volume: 43, Issue:6

    Topics: Adolescent; Basal Ganglia; Cation Transport Proteins; Child; Child, Preschool; Chromatography, High Pressure Liquid; Congenital Disorders of Glycosylation; Exome Sequencing; Female; Glycosylation; Humans; Infant; Magnetic Resonance Imaging; Male; Manganese; Mass Spectrometry; Phenotype; Transferrin; Young Adult

2020
Clinical, molecular and glycophenotype insights in SLC39A8-CDG.
    Orphanet journal of rare diseases, 2021, 07-10, Volume: 16, Issue:1

    Topics: Congenital Disorders of Glycosylation; Glycosylation; Humans; Leigh Disease; Manganese; Polysaccharides

2021
SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation.
    American journal of human genetics, 2015, Dec-03, Volume: 97, Issue:6

    Topics: Amino Acid Sequence; Carbohydrate Sequence; Cation Transport Proteins; Cations, Divalent; Congenital Disorders of Glycosylation; Dwarfism; Female; Galactose; Gene Expression; High-Throughput Nucleotide Sequencing; Humans; Infant; Ion Transport; Manganese; Molecular Sequence Data; Mutation; Pedigree; Sequence Alignment; Spasms, Infantile

2015
Glycosylation abnormalities in Gdt1p/TMEM165 deficient cells result from a defect in Golgi manganese homeostasis.
    Human molecular genetics, 2016, Apr-15, Volume: 25, Issue:8

    Topics: Antiporters; Cation Transport Proteins; Congenital Disorders of Glycosylation; Fungal Proteins; Glycosylation; Golgi Apparatus; HEK293 Cells; HeLa Cells; Homeostasis; Humans; Manganese; Membrane Proteins; Mutation; Vesicular Transport Proteins

2016
A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.
    Journal of inherited metabolic disease, 2017, Volume: 40, Issue:2

    Topics: Cation Transport Proteins; Child; Congenital Disorders of Glycosylation; Female; Genetic Variation; Glycosylation; Humans; Infant; Leigh Disease; Manganese; Mitochondrial Diseases

2017