Evidence map›Paper›PMID 41278815›Full record

ArticlebioRxiv : the preprint server for biology2025

An induced pluripotent stem cell-based chemical genetic approach for studying spinal muscular atrophy.

Richard M Giadone, Kristina M Holton, Xiaoyu Hu, Ted Natoli, Sabrina Ghosh, Stanley P Gill, Aravind Subramanian, Lee L Rubin

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

8 authors.

Richard M GiadoneDepartment of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA.ORCID 0000-0003-4523-3062
Kristina M HoltonDepartment of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA.ORCID 0000-0002-1002-2882
Xiaoyu HuDepartment of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA.
Ted NatoliBroad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Sabrina GhoshDepartment of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA.ORCID 0009-0003-0325-7346
Stanley P GillDepartment of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA.ORCID 0000-0001-5430-4550
Aravind SubramanianBroad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Lee L RubinDepartment of Stem Cell and Regenerative Biology, Harvard University, Cambridge, MA 02138, USA.ORCID 0000-0002-8658-841X

Funding

Direct and Indirect Effects of GDF11 in the Aging Central Nervous SystemR01AG072086 · NIA · HARVARD UNIVERSITY · PI RUBIN, LEE L · 2020 to 2024
$3.1M
Identifying and Correcting Dementia-Associated Changes in the Blood-Brain BarrierR01NS117407 · NINDS · HARVARD UNIVERSITY · PI RUBIN, LEE L · 2024 to 2024
$592k
Understanding Roles for Protein Homeostasis Machinery in Aging Brain VasculatureF32AG079593 · NIA · HARVARD UNIVERSITY · PI GIADONE, RICHARD · 2022 to 2024
$218k
NIA NIH HHS F32 AG079593NIA NIH HHS R01 AG072086NINDS NIH HHS R01 NS117407
6 · The paper itself

Abstract

Spinal muscular atrophy (SMA) is a genetic disease characterized by degeneration of spinal cord motor neurons and neuromuscular junctions. Despite recent development in therapies for SMA, treatment efficacy largely relies on administration of drugs early in disease progression and is impacted by underlying patient genetics. Drug discovery for other diseases of the central nervous system (CNS) has also been hindered by heterogeneity in patient genetics and clinical presentations, as well as the need for early intervention. To address these hurdles, we utilized a chemical genetic-based screening approach to adapt the Connectivity Map (CMAP)/L1000 platform to study SMA. To do this, we differentiated moderate and severe SMA patient-specific induced pluripotent stem cells into neuronal cells utilizing a forward programming differentiation protocol, exposed each to 360 neuroactive or CNS disease-related compounds, and interrogated resulting changes in expression of >400 neural genes in a platform we term CMAP

Indexed as

chemical genetic screeningConnectivity Map (CMAP)iPSCsL1000Spinal muscular atrophy (SMA)

Identifiers

PMID41278815
PMCPMC12637412

What OpenQuestion holds

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Registered trials

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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.