Evidence map›Paper›PMID 39081219›Full record

ReviewActa biochimica et biophysica Sinica2024

Inherited glycosylphosphatidylinositol deficiency: a review from molecular and clinical perspectives.

Shan Li, Qi Tang, Yuwu Jiang, Xing Chen

Abstract readReview
In one paragraph

Review in Acta biochimica et biophysica Sinica, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

4 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Shan LiChildren's Medical Center, Peking University First Hospital, Beijing 100034, China.
Qi TangCollege of Chemistry and Molecular Engineering, Peking University, Beijing 100871, China.
Yuwu JiangChildren's Medical Center, Peking University First Hospital, Beijing 100034, China.
Xing ChenCollege of Chemistry and Molecular Engineering, Peking University, Beijing 100871, China.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Glycosylphosphatidylinositol (GPI) is a highly conserved post-translational modification in eukaryotes, which is essential for anchoring various proteins to the cell surface. Dysfunction of GPI biogenesis leads to human diseases, such as inherited GPI deficiency (IGD) caused by germline mutations in GPI-related genes. With accumulating reports on individuals with IGD, there has been increasing interest and studies on disease mechanism, diagnosis, and therapy. This review outlines the biosynthetic pathway of GPI-anchored proteins (GPI-APs) and summarizes clinical IGD cases from a molecular perspective. We also review current diagnostic and therapeutic approaches for IGD. Finally, we discuss future research directions to facilitate the understanding and treatment of GPI-related disorders.

Indexed as

GlycosylphosphatidylinositolsCarbohydrate Metabolism, Inborn ErrorsGerm-Line MutationHumansSeizuresGlycosylphosphatidylinositolsglycosylationglycosylphosphatidylinositolinherited GPI deficiency

Identifiers

PMID39081219
PMCPMC11466713

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.