Suchergebnisse - "GLYCOSYLATION"

Defining the clinical spectrum and genotype-phenotype correlations for CCDC115-CDG: A patient report and review of the literature.

Autoren: Geerts CJ Alvarez F Gilfix BM et al.

Quelle: Molecular genetics and metabolism [Mol Genet Metab] 2025 Nov; Vol. 146 (3), pp. 109234. Date of Electronic Publication: 2025 Sep 18.

Publikationsart: Journal Article; Case Reports; Review

Info zur Zeitschrift: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

MeSH-Schlagworte: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/pathology , Congenital Disorders of Glycosylation*/diagnosis, Humans ; Genetic Association Studies ; Male ; Female ; Phenotype ; Child, Preschool ; Child ; Golgi Apparatus/metabolism ; Golgi Apparatus/pathology ; Golgi Apparatus/genetics ; Genotype ; Glycosylation ; Mutation ; Infant

Zscan4 as a Candidate Conveyor of Early Developmental Defects in O-GlcNAc Transferase Intellectual Disability.

Autoren: Pravata VM Jiang H Ferenbach AT et al.

Quelle: Molecular & cellular proteomics : MCP [Mol Cell Proteomics] 2025 Nov; Vol. 24 (11), pp. 101077. Date of Electronic Publication: 2025 Sep 29.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Inc. on behalf of American Society for Biochemistry and Molecular Biology Country of Publication: United States NLM ID: 101125647 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-9484 (Electronic) Linking ISSN: 15359476 NLM ISO Abbreviation: Mol Cell Proteomics Subsets: MEDLINE

MeSH-Schlagworte: N-Acetylglucosaminyltransferases*/genetics , N-Acetylglucosaminyltransferases*/metabolism , Intellectual Disability*/genetics , Intellectual Disability*/metabolism , Intellectual Disability*/pathology , Transcription Factors*/metabolism , Transcription Factors*/genetics , Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/metabolism, Animals ; Humans ; Mice ; Mutation ; DNA Methylation ; Mouse Embryonic Stem Cells/metabolism ; Glycosylation

ATP6AP2-Related Disease Caused by Splicing Defects: Abnormal Glycosylation and the First Affected Female.

Autoren: Raynor A de Sainte-Agathe JM Post MA et al.

Quelle: Journal of inherited metabolic disease [J Inherit Metab Dis] 2025 Nov; Vol. 48 (6), pp. e70109.

Publikationsart: Journal Article; Case Reports

Info zur Zeitschrift: Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

MeSH-Schlagworte: Congenital Disorders of Glycosylation*/genetics , RNA Splicing* , Genetic Diseases, X-Linked*/genetics, Humans ; Female ; Glycosylation ; Male ; Intellectual Disability/genetics ; Phenotype ; Pedigree ; Child ; Child, Preschool ; Adult

Activity values of the enzyme phosphomanomutase 2 for diagnosing the CDG Ia glycosylation defect.

Autoren: Ávila Moreno LM Agudelo Peñaloza WS Fajardo AA

Quelle: Clinica chimica acta; international journal of clinical chemistry [Clin Chim Acta] 2026 Jan 01; Vol. 578, pp. 120575. Date of Electronic Publication: 2025 Aug 24.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 1302422 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-3492 (Electronic) Linking ISSN: 00098981 NLM ISO Abbreviation: Clin Chim Acta Subsets: MEDLINE

MeSH-Schlagworte: Phosphotransferases (Phosphomutases)*/metabolism , Phosphotransferases (Phosphomutases)*/blood , Congenital Disorders of Glycosylation*/diagnosis , Congenital Disorders of Glycosylation*/enzymology , Congenital Disorders of Glycosylation*/blood, Humans ; Female ; Male ; Child, Preschool ; Child ; Infant ; Adolescent ; Adult ; Young Adult ; Glycosylation

SCR Disease Name: Congenital disorder of glycosylation type 1A

Zebrafish models for congenital disorders of glycosylation (CDG): a systematic review.

Autoren: Gandoy-Fieiras N Quiroga MI Sánchez L

Quelle: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Sep 24; Vol. 20 (1), pp. 484. Date of Electronic Publication: 2025 Sep 24.

Publikationsart: Journal Article; Systematic Review

Info zur Zeitschrift: Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE

MeSH-Schlagworte: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/metabolism , Zebrafish*, Animals ; Humans ; Disease Models, Animal ; Glycosylation

Genetic disorders of dolichol synthesis and utilization.

Autoren: Pieters E Jaeken J Wilson MP

Quelle: Molecular genetics and metabolism [Mol Genet Metab] 2025 Sep-Oct; Vol. 146 (1-2), pp. 109226. Date of Electronic Publication: 2025 Aug 22.

Publikationsart: Journal Article; Review

Info zur Zeitschrift: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

MeSH-Schlagworte: Dolichols*/biosynthesis , Dolichols*/metabolism , Dolichols*/genetics , Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/metabolism , Congenital Disorders of Glycosylation*/diagnosis, Humans ; Glycosylation ; Biomarkers/metabolism

Progress in research on DDOST dysregulation in related diseases.

Autoren: Sun H Xie C

Quelle: Glycoconjugate journal [Glycoconj J] 2025 Aug; Vol. 42 (3-4), pp. 125-135. Date of Electronic Publication: 2025 Jul 02.

Publikationsart: Journal Article; Review

Info zur Zeitschrift: Publisher: Springer Country of Publication: United States NLM ID: 8603310 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-4986 (Electronic) Linking ISSN: 02820080 NLM ISO Abbreviation: Glycoconj J Subsets: MEDLINE

MeSH-Schlagworte: Membrane Proteins*/metabolism , Membrane Proteins*/genetics , Neoplasms*/genetics , Neoplasms*/metabolism , Neoplasms*/pathology , Neoplasms*/enzymology , Hexosyltransferases*/metabolism , Hexosyltransferases*/genetics , Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/metabolism , Congenital Disorders of Glycosylation*/pathology , Congenital Disorders of Glycosylation*/enzymology, Humans ; Glycosylation ; Animals

Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes.

Autoren: Del Medico G Ferri L Procopio E et al.

Quelle: Frontiers in endocrinology [Front Endocrinol (Lausanne)] 2025 Jul 23; Vol. 16, pp. 1594118. Date of Electronic Publication: 2025 Jul 23 (Print Publication: 2025).

Publikationsart: Journal Article; Review

Info zur Zeitschrift: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101555782 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2392 (Print) Linking ISSN: 16642392 NLM ISO Abbreviation: Front Endocrinol (Lausanne) Subsets: MEDLINE

MeSH-Schlagworte: Congenital Disorders of Glycosylation*/metabolism , Congenital Disorders of Glycosylation*/pathology , Congenital Disorders of Glycosylation*/genetics , Phosphotransferases (Phosphomutases)*/metabolism , Phosphotransferases (Phosphomutases)*/genetics , Endocrine System Diseases*/metabolism , Endocrine System Diseases*/etiology , Endocrine System Diseases*/pathology , Endocrine System*/metabolism, Humans ; Glycosylation

Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.

Autoren: Edmondson AC Honzík T Lam C et al.

Quelle: Molecular genetics and metabolism [Mol Genet Metab] 2025 Sep-Oct; Vol. 146 (1-2), pp. 109188. Date of Electronic Publication: 2025 Jul 13.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

MeSH-Schlagworte: Congenital Disorders of Glycosylation*/epidemiology , Congenital Disorders of Glycosylation*/genetics , Phosphotransferases (Phosphomutases)*/genetics, Humans ; Incidence ; Prevalence ; Europe/epidemiology ; Gene Frequency ; North America/epidemiology ; Glycosylation ; Alleles ; Genotype

Predicting disease-overarching therapeutic approaches for congenital disorders of glycosylation using multi-OMICS.

Autoren: Muffels IJJ Budhraja R Shah R et al.

Quelle: Molecular genetics and metabolism [Mol Genet Metab] 2025 Sep-Oct; Vol. 146 (1-2), pp. 109195. Date of Electronic Publication: 2025 Jul 19.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

MeSH-Schlagworte: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/metabolism , Congenital Disorders of Glycosylation*/drug therapy, Humans ; Glycosylation ; Proteomics/methods ; Glycoproteins/metabolism ; Glycoproteins/genetics ; Multiomics

Structural and Functional Characterization of N-Glycanase-1 Pathogenic Variants.

Autoren: Banning A Hoeren L Atallah I et al.

Quelle: Cells [Cells] 2025 Jul 07; Vol. 14 (13). Date of Electronic Publication: 2025 Jul 07.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

MeSH-Schlagworte: Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase*/genetics , Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase*/chemistry , Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase*/metabolism , Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase*/deficiency , Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/enzymology, Humans ; Proteasome Endopeptidase Complex/metabolism ; Mutation/genetics ; HEK293 Cells ; Glycosylation

SCR Disease Name: NGLY1 deficiency

Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway.

Autoren: Pascoal C Granjo P Kodríková R et al.

Quelle: Frontiers in immunology [Front Immunol] 2025 Sep 18; Vol. 16, pp. 1655354. Date of Electronic Publication: 2025 Sep 18 (Print Publication: 2025).

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Frontiers Research Foundation] Country of Publication: Switzerland NLM ID: 101560960 Publication Model: eCollection Cited Medium: Internet ISSN: 1664-3224 (Electronic) Linking ISSN: 16643224 NLM ISO Abbreviation: Front Immunol Subsets: MEDLINE

MeSH-Schlagworte: Congenital Disorders of Glycosylation*/immunology , Congenital Disorders of Glycosylation*/metabolism , Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/pathology , Phosphotransferases (Phosphomutases)*/genetics , Phosphotransferases (Phosphomutases)*/metabolism , Phosphotransferases (Phosphomutases)*/deficiency , Phosphotransferases (Phosphomutases)*/immunology , Signal Transduction*/immunology , Tumor Necrosis Factor-alpha*/metabolism , Tumor Necrosis Factor-alpha*/immunology , Receptors, Tumor Necrosis Factor, Type I*/metabolism , Receptors, Tumor Necrosis Factor, Type I*/immunology, Humans ; Glycosylation ; Fibroblasts/metabolism ; Fibroblasts/immunology ; Female ; Male

Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases.

Autoren: Altassan R Aldhahri SK Macdonald G et al.

Quelle: Molecular genetics and metabolism [Mol Genet Metab] 2025 Sep-Oct; Vol. 146 (1-2), pp. 109196. Date of Electronic Publication: 2025 Jul 18.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

MeSH-Schlagworte: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/pathology , Congenital Disorders of Glycosylation*/drug therapy, Adolescent ; Child ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Acetylglucosamine/administration & dosage ; Acetylglucosamine/therapeutic use ; Esophageal Achalasia/genetics ; Esophageal Achalasia/pathology ; Genetic Association Studies ; Genotype ; Glycosylation ; Mutation ; Phenotype

Neuromuscular Defects in a Drosophila Model of the Congenital Disorder of Glycosylation SLC35A2-CDG.

Autoren: Itoh K Kurogochi M Kaname T et al.

Quelle: Biomolecules [Biomolecules] 2025 Aug 29; Vol. 15 (9). Date of Electronic Publication: 2025 Aug 29.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101596414 Publication Model: Electronic Cited Medium: Internet ISSN: 2218-273X (Electronic) Linking ISSN: 2218273X NLM ISO Abbreviation: Biomolecules Subsets: MEDLINE

MeSH-Schlagworte: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/metabolism , Congenital Disorders of Glycosylation*/pathology , Monosaccharide Transport Proteins*/genetics , Monosaccharide Transport Proteins*/metabolism , Neuromuscular Junction*/metabolism , Neuromuscular Junction*/pathology , Drosophila Proteins*/genetics , Drosophila Proteins*/metabolism, Animals ; Disease Models, Animal ; Glycosylation ; Humans ; Drosophila melanogaster/genetics ; Mutation ; Drosophila

A hypomorphic Mpi mutation unlocks an in vivo tool for studying global N-glycosylation deficiency.

Autoren: Lin EB Meregini S Zhang Z et al.

Quelle: JCI insight [JCI Insight] 2025 Jul 22; Vol. 10 (14). Date of Electronic Publication: 2025 Jul 22 (Print Publication: 2025).

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: American Society for Clinical Investigation Country of Publication: United States NLM ID: 101676073 Publication Model: eCollection Cited Medium: Internet ISSN: 2379-3708 (Electronic) Linking ISSN: 23793708 NLM ISO Abbreviation: JCI Insight Subsets: MEDLINE

MeSH-Schlagworte: Mannose-6-Phosphate Isomerase*/genetics , Mannose-6-Phosphate Isomerase*/metabolism , Congenital Disorders of Glycosylation*/genetics, Animals ; Glycosylation ; Mice ; Mutation ; Polysaccharides/metabolism ; Mannose/metabolism ; Mannose/pharmacology ; Phenotype ; Female ; Male ; Disease Models, Animal ; Mice, Inbred C57BL

Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation.

Autoren: Dardas Z Harrold L Calame DG et al.

Quelle: American journal of human genetics [Am J Hum Genet] 2025 May 01; Vol. 112 (5), pp. 1139-1157. Date of Electronic Publication: 2025 Apr 22.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

MeSH-Schlagworte: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/pathology , Alleles* , Glucosyltransferases*/genetics, Humans ; Male ; Female ; Glycosylation ; Child, Preschool ; Child ; Infant ; Genetic Association Studies ; Adolescent ; Endoplasmic Reticulum/metabolism ; Pedigree ; Phenotype ; Mutation/genetics

Biochemical testing for congenital disorders of glycosylation: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

Autoren: Hall PL Lam C Wolfe L et al.

Quelle: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2025 Apr; Vol. 27 (4), pp. 101328. Date of Electronic Publication: 2025 Feb 13.

Publikationsart: Journal Article; Practice Guideline

Info zur Zeitschrift: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

MeSH-Schlagworte: Congenital Disorders of Glycosylation*/diagnosis , Congenital Disorders of Glycosylation*/genetics , Genetic Testing*/standards , Genetic Testing*/methods , Genetics, Medical*/standards, Humans ; Genomics/methods ; Genomics/standards ; Glycosylation ; United States

A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.

Autoren: Falkenstein K Hoeren L Kikul F et al.

Quelle: Human mutation [Hum Mutat] 2025 Jun 26; Vol. 2025, pp. 6290620. Date of Electronic Publication: 2025 Jun 26 (Print Publication: 2025).

Publikationsart: Case Reports; Journal Article; Review

Info zur Zeitschrift: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: eCollection Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

MeSH-Schlagworte: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/metabolism , Congenital Disorders of Glycosylation*/diagnosis , Congenital Disorders of Glycosylation*/blood , Energy Metabolism*/genetics , Lipid Metabolism*/genetics , Mutation, Missense*, Female ; Humans ; Male ; Biomarkers/blood ; Fibroblasts/metabolism ; Glycosylation ; HEK293 Cells ; Nucleotide Transport Proteins

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13 .

Autoren: Radenkovic S Adant I Bird MJ et al.

Quelle: Cells [Cells] 2025 Apr 25; Vol. 14 (9). Date of Electronic Publication: 2025 Apr 25.

Publikationsart: Journal Article; Case Reports; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Info zur Zeitschrift: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101600052 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4409 (Electronic) Linking ISSN: 20734409 NLM ISO Abbreviation: Cells Subsets: MEDLINE

MeSH-Schlagworte: Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/metabolism , Metabolomics* , Oxidative Phosphorylation* , Phosphoglucomutase*/genetics , Phosphoglucomutase*/metabolism, Adolescent ; Humans ; Fibroblasts/metabolism ; Glycosylation ; Mutation/genetics

Glycosphingolipid synthesis is impaired in SLC35A2-CDG and improves with galactose supplementation.

Autoren: Jáñez Pedrayes A De Craemer S Idkowiak J et al.

Quelle: Cellular and molecular life sciences : CMLS [Cell Mol Life Sci] 2025 Jun 27; Vol. 82 (1), pp. 257. Date of Electronic Publication: 2025 Jun 27.

Publikationsart: Journal Article

Info zur Zeitschrift: Publisher: Springer Country of Publication: Switzerland NLM ID: 9705402 Publication Model: Electronic Cited Medium: Internet ISSN: 1420-9071 (Electronic) Linking ISSN: 1420682X NLM ISO Abbreviation: Cell Mol Life Sci Subsets: MEDLINE

MeSH-Schlagworte: Congenital Disorders of Glycosylation*/metabolism , Congenital Disorders of Glycosylation*/pathology , Congenital Disorders of Glycosylation*/genetics , Congenital Disorders of Glycosylation*/drug therapy , Glycosphingolipids*/biosynthesis , Glycosphingolipids*/metabolism , Galactose*/pharmacology , Galactose*/metabolism, Humans ; Fibroblasts/metabolism ; Fibroblasts/drug effects ; Glycosylation/drug effects ; Animals ; CHO Cells ; Cricetulus ; Golgi Apparatus/metabolism ; Dietary Supplements ; Monosaccharide Transport Proteins