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

Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression.

Genome medicine - 9 Mar 2021

Bonelli Roberto, Ansell Brendan R E, Lotta Luca, Scerri Thomas, Clemons Traci E, Leung Irene, Peto Tunde, Bird Alan C, Sallo Ferenc B, Langenberg Claudia, Bahlo Melanie

Abstract excerpt

BACKGROUND: Macular telangiectasia type 2 (MacTel) is a rare, heritable and largely untreatable retinal disorder, often comorbid with diabetes. Genetic risk loci subtend retinal vascular calibre and glycine/serine/threonine metabolism genes. Serine deficiency may contribute to MacTel via neurotoxic deoxysphingolipid production; however, an independent vascular contribution is also suspected. Here, we use...

Read the complete abstract on PubMed

Topics

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

Share to Biosynthetic Pathways
Share to Diabetes Mellitus, Type 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disease Progression

Share to Endophenotypes

Share to Genetic Loci

Share to Metabolome

Share to Retinal Vessels

Share to Serine

Source

Open in PubMed Open full text

Identifiers

PMID: 33750426
DOI: 10.1186/s13073-021-00848-4
PMCID: PMC7945323

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genetic disruption of serine biosynthesis is a key driver of macular telangiectasia type 2 aetiology and progression.PMID 33750426Read ↗

Genetic Disruption of Serine Biosynthesis is a Key Driver of Macular Telangiectasia Type 2 Etiology and ProgressionSemantic proximity Read ↗

Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorderSemantic proximity Read ↗

Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder.Semantic proximity Read ↗

Serine biosynthesis defect due to haploinsufficiency of PHGDH causes retinal disease.Semantic proximity Read ↗

Genetic Background of Macular Telangiectasia Type 2Semantic proximity Read ↗

Genome-wide analyses identify common variants associated with macular telangiectasia type 2.Semantic proximity Read ↗

Systemic lipid dysregulation is a risk factor for macular neurodegenerative disease.Semantic proximity Read ↗

Genetic Penetrance of Macular Telangiectasia Type 2.Semantic proximity Read ↗

METHYLATION-ASSOCIATED PATHWAYS IN MACULAR TELANGIECTASIA TYPE 2 AND OPHTHALMOLOGIC FINDINGS IN PATIENTS WITH GENETIC METHYLATION DISORDERSSemantic proximity Read ↗

Divergent amino acid and sphingolipid metabolism in patients with inherited neuro-retinal diseaseSemantic proximity Read ↗

Convergent human genetic evidence implicates serine biosynthesis in diabetic peripheral neuropathySemantic proximity Read ↗

Phenome- and genome-wide analyses of retinal optical coherence tomography images identify links between ocular and systemic healthSemantic proximity Read ↗

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