Evidence map›Paper›PMID 37189363›Full record

ArticleBiomolecules2023

Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes.

Jennifer J Lee, Swetha Ramadesikan, Adrianna F Black, Charles Christoffer, Andres F Pacheco Pacheco, Sneha Subramanian, Claudia B Hanna, Gillian Barth, Cynthia V Stauffacher, Daisuke Kihara and 1 more

Open access · goldAbstract read
In one paragraph

Article in Biomolecules, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
1.3field-weighted citation impact, top 23% 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

6 citing papers in PubMed, 6 citations in OpenAlex.

  1. Coexistence of a NovelJournal of clinical medicine · 2026
    Article
  2. Article
  3. Clinical variation in Lowe syndrome: what and how?Frontiers in cell and developmental biology · 2025
    Review
  4. Article
  5. Article
  6. 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

11 authors at 1 institution in 1 country.

Jennifer J LeeDepartment of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.ORCID 0000-0003-4407-0310
Swetha RamadesikanDepartment of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.ORCID 0000-0002-8066-2500
Adrianna F BlackDepartment of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
Charles ChristofferDepartment of Computer Science, Purdue University, West Lafayette, IN 47907, USA.
Andres F Pacheco PachecoDepartment of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.ORCID 0000-0002-3076-7793
Sneha SubramanianDepartment of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
Claudia B HannaDepartment of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
Gillian BarthDepartment of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.ORCID 0000-0002-4913-956X
Cynthia V StauffacherDepartment of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
Daisuke KiharaDepartment of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.ORCID 0000-0003-4091-6614
Ruben Claudio AguilarDepartment of Biological Sciences, Purdue University, West Lafayette, IN 47907, USA.
Purdue University West Lafayette · US

Funding

Purdue University Molecular Biophysics Training ProgramT32GM132024 · NIGMS · PURDUE UNIVERSITY · PI Angeline Marie Lyon, John Tesmer · 2019 to 2026
$2.0M
Restoring Ocrl1 function in Lowe Syndrome and Dent-2 diseaseR01DK131049 · NIDDK · PURDUE UNIVERSITY · PI AGUILAR, RUBEN CLAUDIO · 2021 to 2025
$1.7M
Building protein structure models for intermediate resolution cryo-electron microscopy mapsR01GM133840 · NIGMS · PURDUE UNIVERSITY · PI KIHARA, DAISUKE · 2020 to 2023
$1.6M
Lowe Syndrome: Therapeutic Strategy by Drug RepositioningR01DK109398 · NIDDK · PURDUE UNIVERSITY · PI AGUILAR, RUBEN CLAUDIO · 2017 to 2019
$665k
NIDDK NIH HHS R01 DK109398NIDDK NIH HHS R01 DK131049NIGMS NIH HHS R01 GM133840NIGMS NIH HHS T32 GM132024NIH HHS R01DK131049
6 · The paper itself

Abstract

Lowe Syndrome (LS) is a condition due to mutations in the

Indexed as

Oculocerebrorenal SyndromeHumansMutationMutation, MissensePhenotypePhosphoric Monoester HydrolasesPhosphoric Monoester Hydrolasescellular phenotypesLowe syndromeOCRL1phosphatase activityrare genetic disease

Identifiers

PMID37189363
PMCPMC10135975
OpenAlexW4361274298

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.