Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL).

Journal of inherited metabolic disease - 1 Jan 2015

Ng Bobby G, Freeze Hudson H

Abstract excerpt

Glycosylation - enabling genes are thought to comprise approximately 1-2 % of the human genome, thus, it is not surprising that more than 100 genetic disorders have been identified in this complex multi-pathway cellular process. Recent advances in next generation sequencing technology (NGS) have led to the discovery of genetic causes of many new disorders and importantly highlighted the broad phenotypes that...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Carbohydrates
Share to Genome, Human
Share to Glycosphingolipids

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycosylation

Share to Glycosylphosphatidylinositols

Share to High-Throughput Nucleotide Sequencing

Share to Phenotype

Share to Sequence Analysis, DNA

Source

Open in PubMed Open full text

Identifiers

PMID: 25164783
DOI: 10.1007/s10545-014-9752-1
PMCID: PMC4373530

Genes

GPI

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Human genetic disorders involving glycosylphosphatidylinositol (GPI) anchors and glycosphingolipids (GSL).PMID 25164783Read ↗

Clinical variability in inherited glycosylphosphatidylinositol deficiency disorders.Semantic proximity Read ↗

Significantly different clinical phenotypes associated with mutations in synthesis and transamidase+remodeling glycosylphosphatidylinositol (GPI)-anchor biosynthesis genes.Semantic proximity Read ↗

Neurological Aspects of Human Glycosylation DisordersSemantic proximity Read ↗

The Glycosylphosphatidylinositol biosynthesis pathway in human diseases.Semantic proximity Read ↗

The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.Semantic proximity Read ↗

Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Semantic proximity Read ↗

Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis--The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes.Semantic proximity Read ↗

Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.Semantic proximity Read ↗

Congenital disorders of glycosylation: Still "hot" in 2020.Semantic proximity Read ↗

Genetic Study and Prenatal Diagnosis of Inherited Glycosylphosphatidylinositol Disorders due to Novel Variants in Phosphatidylinositol Glycan Genes.Semantic proximity Read ↗

Understanding human glycosylation disorders: biochemistry leads the charge.Semantic proximity Read ↗

Human glycosylation disorders.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.