Evidence map›Paper›PMID 30945407›Full record

ReviewTraffic (Copenhagen, Denmark)2019

The road to lysosome-related organelles: Insights from Hermansky-Pudlak syndrome and other rare diseases.

Shanna L Bowman, Jing Bi-Karchin, Linh Le, Michael S Marks

Open access · bronzeAbstract readReview
In one paragraph

Review in Traffic (Copenhagen, Denmark), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 123 papers.

0numbers the graph read from it
0cells of the map it votes in
123citing papers in PubMed
14.0field-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

123 citing papers in PubMed, 242 citations in OpenAlex.

  1. Article
  2. Review
  3. Article
  4. Article
  5. Lysosome-related organelles orchestrate guanine crystal formation in pigment cells.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  6. Article
  7. Article
  8. Editorial: Biology of lysosome-related organelles.Frontiers in cell and developmental biology · 2026
    Article
  9. Review
  10. Article
  11. Article
  12. Review
  13. Article
  14. Article
  15. Article
  16. Article
  17. Article
  18. Review
  19. Review
  20. Article

63 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

4 authors at 1 institution in 1 country.

Shanna L BowmanDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania.
Jing Bi-KarchinDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania.
Linh LeDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania.
Michael S MarksDepartment of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia Research Institute, Philadelphia, Pennsylvania.ORCID 0000-0001-7435-7262
Children's Hospital of Philadelphia · US

Funding

University of Pennsylvania Postdoctoral Opportunities in Research and TeachingK12GM081259 · NIGMS · UNIVERSITY OF PENNSYLVANIA · PI Janis K. Burkhardt · 2007 to 2026
$20.1M
HEMATOLOGY CLINICAL RESEARCH TRAINING PROGRAMT32HL007439 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI LAWRENCE F BRASS, PETER S KLEIN · 1985 to 2026
$17.1M
Hermansky Pudlak Syndrome &melanosome formationR01EY015625 · NEI · UNIVERSITY OF PENNSYLVANIA · PI Michael S Marks · 2004 to 2026
$9.2M
Melanosome BiogenesisR01AR048155 · NIAMS · UNIVERSITY OF PENNSYLVANIA · PI MARKS, MICHAEL S · 2002 to 2017
$4.2M
Platelet granule formation and function in health and diseaseR01HL121323 · NHLBI · CHILDREN'S HOSP OF PHILADELPHIA · PI MARKS, MICHAEL S · 2014 to 2017
$1.9M
Lamellar Body Biogenesis in Health and DiseaseR01GM108807 · NIGMS · CHILDREN'S HOSP OF PHILADELPHIA · PI GUTTENTAG, SUSAN H., MARKS, MICHAEL S · 2014 to 2017
$1.5M
NEI NIH HHS R01 EY015625NHLBI NIH HHS R01 HL121323NHLBI NIH HHS T32 HL007439NIAMS NIH HHS R01 AR048155NIGMS NIH HHS K12 GM081259NIGMS NIH HHS R01 GM108807
6 · The paper itself

Abstract

Lysosome-related organelles (LROs) comprise a diverse group of cell type-specific, membrane-bound subcellular organelles that derive at least in part from the endolysosomal system but that have unique contents, morphologies and functions to support specific physiological roles. They include: melanosomes that provide pigment to our eyes and skin; alpha and dense granules in platelets, and lytic granules in cytotoxic T cells and natural killer cells, which release effectors to regulate hemostasis and immunity; and distinct classes of lamellar bodies in lung epithelial cells and keratinocytes that support lung plasticity and skin lubrication. The formation, maturation and/or secretion of subsets of LROs are dysfunctional or entirely absent in a number of hereditary syndromic disorders, including in particular the Hermansky-Pudlak syndromes. This review provides a comprehensive overview of LROs in humans and model organisms and presents our current understanding of how the products of genes that are defective in heritable diseases impact their formation, motility and ultimate secretion.

Indexed as

AnimalsHermanski-Pudlak SyndromeHumansLysosomesMelanosomesWeibel-Palade Bodiesalpha granuleAP-3BLOC-1BLOC-2BLOC-3Chediak-Higashi syndromedense granuleGriscelli syndromeHermansky-Pudlak syndromeHOPSlamellar bodymelanosomeRAB27ARAB32RAB38VPS33AVPS33BWeibel-Palade body

Identifiers

PMID30945407
PMCPMC6541516
OpenAlexW2930463924

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.