Evidence map›Paper›PMID 23521701›Full record

ReviewTraffic (Copenhagen, Denmark)2013

The BEACH is hot: a LYST of emerging roles for BEACH-domain containing proteins in human disease.

Andrew R Cullinane, Alejandro A Schäffer, Marjan Huizing

Abstract readReview
In one paragraph

Review in Traffic (Copenhagen, Denmark), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 103 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
103citing papers in PubMed, 1 pooled it
10.7field-weighted citation impact, top 1% of its field
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

103 citing papers in PubMed, 1 synthesis or guideline pooled it, 183 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. WDFY4-dependent cross-presentation proceeds via a vacuolar antigen-processing route.Proceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  4. Article
  5. Inborn errors of regulatory T-cell differentiation and function.The Journal of allergy and clinical immunology · 2025
    Review
  6. Article
  7. ThemSphere · 2025
    Article
  8. Article
  9. Article
  10. The winding road to platelet α-granules.Frontiers in cell and developmental biology · 2025
    Review
  11. Article
  12. Article
  13. Lack of WDFY4 leads to impaired immune response and poor cancer prognosis.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2024
    Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Article
  19. Article
  20. Review

43 more citing papers are in PubMed but not listed here.

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

3 authors at 2 institutions in 1 country.

Andrew R CullinaneMedical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Department of Health and Human Services, Bethesda, MD 20892, USA.
Alejandro A Schäffer
Marjan Huizing
National Human Genome Research Institute · USNational Institutes of Health · US

Funding

Case Studies In GeneticsZIALM000097 · NLM · NATIONAL LIBRARY OF MEDICINE · PI SCHAFFER, ALEJANDRO A · 2009 to 2019
$4.6M
Cell Biology of Metabolic DisordersZIAHG200322 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2014
$3.1M
Intramural NIH HHS Z99 CL999999Intramural NIH HHS Z99 HG999999Intramural NIH HHS Z99 HL999999Intramural NIH HHS Z99 LM999999Intramural NIH HHS Z99 MH999999
6 · The paper itself

Abstract

BEACH (named after 'Beige and Chediak-Higashi') is a conserved ∼280 residue domain, present in nine human BEACH domain containing proteins (BDCPs). Most BDCPs are large, containing a PH-like domain for membrane association preceding their BEACH domain, and containing WD40 and other domains for ligand binding. Recent studies found that mutations in individual BDCPs cause several human diseases. BDCP alterations affect lysosome size (LYST and NSMAF), apoptosis (NSMAF), autophagy (LYST, WDFY3, LRBA), granule size (LYST, NBEAL2, NBEA) or synapse formation (NBEA). However, the roles of each BDCP in these membrane events remain controversial. After reviewing studies on individual BDCPs, we propose a unifying hypothesis that BDCPs act as scaffolding proteins that facilitate membrane events, including both fission and fusion, determined by their binding partners. BDCPs may also bind each other, enabling fusion or fission of vesicles that are not necessarily of the same type. Such mechanisms explain why different BDCPs may have roles in autophagy; each BDCP is specific for the cell type or the cargo, but not necessarily specific for attaching to the autophagosome. Further elucidation of these mechanisms, preferably carrying out the same experiment on multiple BDCPs, and possibly using patients' cells, may identify potential targets for therapy.

Indexed as

Protein Structure, TertiaryAdaptor Proteins, Signal TransducingAdaptor Proteins, Vesicular TransportAmino Acid SequenceAnimalsChediak-Higashi SyndromeDiseaseHumansLysosomesMembrane ProteinsMolecular Sequence DataPolymorphism, Single NucleotideAdaptor Proteins, Signal TransducingAdaptor Proteins, Vesicular TransportMembrane Proteins

Identifiers

PMID23521701
PMCPMC3761935
OpenAlexW1563596186

What OpenQuestion holds

Textmetadata
LicenceTDM
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.