Evidence map›Paper›PMID 41106691›Full record

ArticleNeurobiology of disease2025

Retention of lysosomal acid sphingomyelinase protects from Niemann-Pick Disease.

Cameron A Beard, Kyra N Hermanson, Justin M Snider, Aki Hara, Brandon K Dahl, Janet J Allopenna, Marilyn T Marron, Benjamin Newcomb, Benjamin E Low, Michael V Wiles and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Neurobiology of disease, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

14 authors.

Cameron A BeardSchool of Nutritional Sciences and Wellness, University of Arizona, Tucson, AZ 85721, USA; College of Medicine Tucson, University of Arizona, Tucson, AZ 85721, USA.
Kyra N HermansonDepartment of Physiology, University of Arizona, Tucson, AZ 85721, USA.
Justin M SniderSchool of Nutritional Sciences and Wellness, University of Arizona, Tucson, AZ 85721, USA; University of Arizona Cancer Center, University of Arizona, Tucson, AZ 85721, USA.
Aki HaraSchool of Nutritional Sciences and Wellness, University of Arizona, Tucson, AZ 85721, USA.
Brandon K DahlSchool of Nutritional Sciences and Wellness, University of Arizona, Tucson, AZ 85721, USA.
Janet J AllopennaDepartment of Medicine and Stony Brook Cancer Center, Stony Brook, NY 11794, USA.
Marilyn T MarronSchool of Nutritional Sciences and Wellness, University of Arizona, Tucson, AZ 85721, USA.
Benjamin NewcombDepartment of Medicine and Stony Brook Cancer Center, Stony Brook, NY 11794, USA.
Benjamin E LowTechnology Evaluation and Development, The Jackson Laboratory, Bar Harbor, ME, USA; Genetic Resource Science, The Jackson Laboratory, Bar Harbor, ME, USA.
Michael V WilesTechnology Evaluation and Development, The Jackson Laboratory, Bar Harbor, ME, USA.
Russell W JenkinsHollings Cancer Center, Medical University of South Carolina, Charleston, SC 29425, USA.
Lina M ObeidDepartment of Medicine and Stony Brook Cancer Center, Stony Brook, NY 11794, USA; Northport Veterans Affairs Medical Center, Northport, NY 11768, USA.
Yusuf A HannunDepartment of Medicine and Stony Brook Cancer Center, Stony Brook, NY 11794, USA; Northport Veterans Affairs Medical Center, Northport, NY 11768, USA.
Ashley J SniderSchool of Nutritional Sciences and Wellness, University of Arizona, Tucson, AZ 85721, USA; University of Arizona Cancer Center, University of Arizona, Tucson, AZ 85721, USA. Electronic address: ashleysnider@arizona.edu.

Funding

VITAMIN AP30CA023074 · NCI · UNIVERSITY OF ARIZONA · PI Teri L Bankhead · 1985 to 2026
$110.2M
Sphingolipids in Cancer Therapy and AngiogenesisP01CA097132 · NCI · STATE UNIVERSITY NEW YORK STONY BROOK · PI YUSUF AWNI HANNUN · 2003 to 2026
$30.8M
Developing animal models to dissociate lysosomal from inflammatory functions of acid sphingomyelinaseR03HD099467 · NICHD · UNIVERSITY OF ARIZONA · PI SNIDER, ASHLEY JONES · 2019 to 2020
$154k
NCI NIH HHS P01 CA097132NCI NIH HHS P30 CA023074NICHD NIH HHS R03 HD099467
6 · The paper itself

Abstract

Niemann-Pick Disease (NPD) types A and B are lysosomal storage disorders resulting from dysfunction or loss of acid sphingomyelinase (aSMase), which hydrolyzes sphingomyelin (SM) to ceramide and phosphocholine. Patients with NPD-A develop severe neurologic and visceral pathology and rarely live beyond the age of 3 years, while patients with NPD-B typically live to adolescence/early adulthood without neurologic involvement. There are currently no therapies for NPD-A. SMPD1, the gene that encodes aSMase, gives rise to two distinct enzymes - lysosomal sphingomyelinase (L-SMase) and secretory sphingomyelinase (S-SMase), with the latter being associated with inflammation and chemokine amplification. This study sought to define the role of secretory-deficient aSMase variants in NPD. Human NPD fibroblasts transfected with wildtype or two aSMase variants demonstrated that serine residues at either position 507 or 508 in human aSMase retained L-SMase yet lacked S-SMase activity, basally and in response to inflammatory stimuli. We next generated a novel mouse model harboring the S505A variant (aSMase

Indexed as

LysosomesNiemann-Pick DiseasesSphingomyelin PhosphodiesteraseAnimalsDisease Models, AnimalFibroblastsHumansMaleMiceMice, Inbred C57BLMice, KnockoutNiemann-Pick Disease, Type AASMase, mouseSMPD1 protein, humanSphingomyelin PhosphodiesteraseAcid sphingomyelinaseCeramideLysosomal storage disorderNieman-pick diseaseSphingomyelin

Identifiers

PMID41106691
PMCPMC12834037

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.