ReviewJournal of inherited metabolic disease2011
Mouse models for congenital disorders of glycosylation.
Review in Journal of inherited metabolic disease, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 27 citations in OpenAlex.
- Cardiac complications of congenital disorders of glycosylation (CDG): a systematic review of the literature.Journal of inherited metabolic disease · 2017Pooled it
- Cardiomyopathy, an uncommon phenotype of congenital disorders of glycosylation: Recommendations for baseline screening and follow-up evaluation.Molecular genetics and metabolism · 2024Article
- DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.Molecular syndromology · 2023Article
- SomaticNeurology. Genetics · 2020Article
- GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2018Review
- Metabolic etiologies in West syndrome.Epilepsia open · 2018Review
- CDG Therapies: From Bench to Bedside.International journal of molecular sciences · 2018Review
- COG7 deficiency inJournal of cell science · 2017Article
- Lack of phosphomannomutase 2 affects Xenopus laevis morphogenesis and the non-canonical Wnt5a/Ror2 signalling.Journal of inherited metabolic disease · 2015Article
- In vivo cell biology in zebrafish - providing insights into vertebrate development and disease.Journal of cell science · 2014Review
- Therapies and therapeutic approaches in Congenital Disorders of Glycosylation.Glycoconjugate journal · 2013Review
- The Drosophila neurally altered carbohydrate mutant has a defective Golgi GDP-fucose transporter.The Journal of biological chemistry · 2012Article
- Insights into complexity of congenital disorders of glycosylation.Biochemia medica · 2012Review
- Characterization of kallikrein-related peptidase 4 glycosylations.European journal of oral sciences · 2011Article
- Arabidopsis thaliana alpha1,2-glucosyltransferase (ALG10) is required for efficient N-glycosylation and leaf growth.The Plant journal : for cell and molecular biology · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Glycoprotein biosynthesis describes the process of co- and posttranslational attachment of sugar chains to proteins, a process that has been found in nearly all known organisms. Human deficiencies evoked by mutations in the glycosylation pathway of glycoproteins lead to congenital disorders of glycosylation (CDG), a rapidly expanding group of autosomal recessive inherited metabolic diseases with multisystemic phenotypes that are mostly combined with severe neurological impairment. Although investigations on new types of CDG have proceeded rapidly in recent years, the correlation between inaccurate protein glycosylation and pathological loss of functionality of distinct organ systems remains widely unknown, and therapeutics for the patients are mostly not available. Therefore, mouse models provide an outstanding helpful tool for investigations on different aspects of glycosylation deficiencies that cannot be performed in patients or cell culture. This review focuses on existing mouse models generated for the types of CDG that affect the N-glycosylation pathway.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.