Evidence map›Paper›PMID 30808805›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2019

Mechanism of glucocerebrosidase activation and dysfunction in Gaucher disease unraveled by molecular dynamics and deep learning.

Raquel Romero, Arvind Ramanathan, Tony Yuen, Debsindhu Bhowmik, Mehr Mathew, Lubna Bashir Munshi, Seher Javaid, Madison Bloch, Daria Lizneva, Alina Rahimova and 7 more

Abstract read
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing 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

37 citing papers in PubMed.

  1. Article
  2. Review
  3. Parkinson's-Linked LRRK2 and GBA1 Mutations Modulate the Peripheral Immune Response to Pseudomonas aeruginosa.Movement disorders : official journal of the Movement Disorder Society · 2026
    Article
  4. Article
  5. Article
  6. Identification of Novel Mutations in Patients Affected by Gaucher Disease.International journal of molecular sciences · 2025
    Article
  7. Article
  8. Article
  9. Article
  10. Article
  11. Phenotypic consequences of GBA1 pathological variant R463C (p.R502C).American journal of medical genetics. Part A · 2024
    Article
  12. Deciphering the Coevolutionary Dynamics of L2 β-Lactamases via Deep Learning.Journal of chemical information and modeling · 2024
    Article
  13. Article
  14. Article
  15. Review
  16. Review
  17. Article
  18. Article
  19. Article
  20. AI-driven multiscale simulations illuminate mechanisms of SARS-CoV-2 spike dynamics.The international journal of high performance computing applications · 2021
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

17 authors.

Raquel RomeroDepartment of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, WC1N 1AX London, United Kingdom.
Arvind RamanathanComputational Science and Engineering Division, Oak Ridge National Laboratory, Oak Ridge, TN 37830.
Tony YuenDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Debsindhu BhowmikComputational Science and Engineering Division, Oak Ridge National Laboratory, Oak Ridge, TN 37830.
Mehr MathewMount Sinai Bone Program, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Lubna Bashir MunshiMount Sinai Bone Program, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Seher JavaidMount Sinai Bone Program, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Madison BlochMount Sinai Bone Program, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Daria LiznevaDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Alina RahimovaDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Ayesha KhanMount Sinai Bone Program, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Charit TanejaDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Se-Min KimDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Li SunDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029.
Maria I NewDepartment of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY 10029 maria.new@mssm.edu shozeb.haider@ucl.ac.uk mone.zaidi@mssm.edu.
Shozeb HaiderDepartment of Pharmaceutical and Biological Chemistry, University College London School of Pharmacy, WC1N 1AX London, United Kingdom; maria.new@mssm.edu shozeb.haider@ucl.ac.uk mone.zaidi@mssm.edu.ORCID 0000-0003-2650-2925
Mone ZaidiDepartment of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY 10029; maria.new@mssm.edu shozeb.haider@ucl.ac.uk mone.zaidi@mssm.edu.

Funding

Targeting FSH for the Therapy of Osteoporosis, Obesity and NeurodegenerationU19AG060917 · NIA · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI Se-Min Kim · 2019 to 2026
$29.0M
Role of FSH in Osreoclast Formation and FunctionR01AG023176 · NIA · MOUNT SINAI SCHOOL OF MEDICINE OF NYU · PI ZAIDI, MONE · 2003 to 2012
$4.4M
Ahr and OsteoporosisR01AR067066 · NIAMS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI AVADHANI, NARAYAN G, ZAIDI, MONE · 2014 to 2018
$3.3M
Thyrotropin Receptor, Thyrotropin and Mechanisms of Bone LossR01DK113627 · NIDDK · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI DAVIES, TERRY FRANCIS, IQBAL, JAMEEL Z · 2017 to 2020
$2.8M
Understanding the skeletal phenotype of Gaucher diseaseR01AR065932 · NIAMS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI MISTRY, PRAMOD K, ZAIDI, MONE · 2013 to 2017
$2.6M
NIAMS NIH HHS R01 AR065932NIAMS NIH HHS R01 AR067066NIA NIH HHS R01 AG023176NIA NIH HHS U19 AG060917NIDDK NIH HHS R01 DK113627
6 · The paper itself

Abstract

The lysosomal enzyme glucocerebrosidase-1 (GCase) catalyzes the cleavage of a major glycolipid glucosylceramide into glucose and ceramide. The absence of fully functional GCase leads to the accumulation of its lipid substrates in lysosomes, causing Gaucher disease, an autosomal recessive disorder that displays profound genotype-phenotype nonconcordance. More than 250 disease-causing mutations in

Indexed as

Deep LearningMolecular Dynamics SimulationCatalytic DomainEnzyme ActivationGaucher DiseaseGlucosylceramidaseHumansHydrogen BondingMutant ProteinsProtein Interaction MapsProtein Structure, SecondarySaposinsGlucosylceramidaseMutant ProteinsSaposinsgene mutationslysosomal storage diseasemultiscale simulationsrare disease

Identifiers

PMID30808805
PMCPMC6421449

What OpenQuestion holds

Textmetadata
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.