Evidence map›Paper›PMID 35505663›Full record

ArticleMolecular therapy. Methods & clinical development2022

Gene therapy for guanidinoacetate methyltransferase deficiency restores cerebral and myocardial creatine while resolving behavioral abnormalities.

Suhail Khoja, Jenna Lambert, Matthew Nitzahn, Adam Eliav, YuChen Zhang, Mikayla Tamboline, Colleen T Le, Eram Nasser, Yunfeng Li, Puja Patel and 7 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular therapy. Methods & clinical development, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.4field-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

7 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Review
  5. Recent developments in translational imaging of in vivo gene therapy outcomes.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Review
  6. [Scientific reports · 2025
    Article
  7. 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

17 authors at 7 institutions in 2 countries.

Suhail KhojaDepartment of Surgery, UCLA, Los Angeles, CA 90025, USA.
Jenna LambertDepartment of Surgery, UCLA, Los Angeles, CA 90025, USA.
Matthew NitzahnMolecular Biology Institute, UCLA, Los Angeles, CA 90025, USA.
Adam EliavDepartment of Surgery, UCLA, Los Angeles, CA 90025, USA.
YuChen ZhangSemel Institute for Neuroscience, UCLA, Los Angeles, CA 90025, USA.
Mikayla TambolineCrump Institute for Molecular Imaging, UCLA, Los Angeles, CA 90025, USA.
Colleen T LeDepartment of Surgery, UCLA, Los Angeles, CA 90025, USA.
Eram NasserDepartment of Surgery, UCLA, Los Angeles, CA 90025, USA.
Yunfeng LiDepartments of Pathology and Laboratory Medicine, UCLA, Los Angeles, CA 90025, USA.
Puja PatelDepartment of Surgery, UCLA, Los Angeles, CA 90025, USA.
Irina ZhuravkaBehavioral Testing Core, Department of Psychology, UCLA, Los Angeles, CA 90025, USA.
Lindsay M LueptowBehavioral Testing Core, Department of Psychology, UCLA, Los Angeles, CA 90025, USA.
Ilona TkachyovaResearch Institute, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Shili XuCrump Institute for Molecular Imaging, UCLA, Los Angeles, CA 90025, USA.
Itzhak NissimDivision of Metabolism and Human Genetics, Children's Hospital of Philadelphia, and the Department of Biochemistry and Biophysics, Perlman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Andreas SchulzeDepartment of Paediatrics, University of Toronto, Toronto, ON M5G 1X8, Canada.
Gerald S LipshutzDepartment of Surgery, UCLA, Los Angeles, CA 90025, USA.
Children's Hospital of Philadelphia · USHospital for Sick Children · CAInstitute for Molecular Medicine · USLos Angeles Medical Center · USUCLA Jonsson Comprehensive Cancer CenterUniversity of California, Los Angeles · USUniversity of Toronto · CA

Funding

UCLA IDDRC: Translational CoreP50HD103557 · NICHD · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI Peyman Golshani, SUMA JACOB · 2020 to 2026
$9.6M
Understanding the Mechanism and Preventing the Unique Neuropathology of Arginase DeficiencyR01NS110596 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI LIPSHUTZ, GERALD S · 2019 to 2023
$1.7M
Cell and Gene Replacement Strategies for Arginase DeficiencyR01NS100979 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI LIPSHUTZ, GERALD S · 2017 to 2021
$1.7M
Investigation of Neuroanatomical Alterations in Arginase Deficiency After Neonatal Gene TherapyR03NS101682 · NINDS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI LIPSHUTZ, GERALD S · 2017 to 2018
$154k
NINDS NIH HHS R01 NS100979NINDS NIH HHS R01 NS110596NINDS NIH HHS R03 NS101682
6 · The paper itself

Abstract

Creatine deficiency disorders are inborn errors of creatine metabolism, an energy homeostasis molecule. One of these, guanidinoacetate

Indexed as

AAVcreatinegene therapyguanidinoacetateguanidinoacetate methyltransferase deficiency

Identifiers

PMID35505663
PMCPMC9051621
OpenAlexW4220929165

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.