Evidence map›Paper›PMID 23452848›Full record

ArticleCell2013

An AT-hook domain in MeCP2 determines the clinical course of Rett syndrome and related disorders.

Steven Andrew Baker, Lin Chen, Angela Dawn Wilkins, Peng Yu, Olivier Lichtarge, Huda Yahya Zoghbi

Open access · bronzeAbstract read
In one paragraph

Article in Cell, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 133 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
133citing papers in PubMed, 1 pooled it
19.2field-weighted citation impact, top 1% 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

133 citing papers in PubMed, 1 synthesis or guideline pooled it, 226 citations in OpenAlex.

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  19. Developing AAV-delivered nonsense suppressor tRNAs for neurological disorders.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2024
    Review
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73 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

6 authors at 3 institutions in 1 country.

Steven Andrew BakerProgram in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA.
Lin Chen
Angela Dawn Wilkins
Peng Yu
Olivier Lichtarge
Huda Yahya Zoghbi
Baylor College of Medicine · USHoward Hughes Medical Institute · USTexas Children's Hospital · US

Funding

UNDERSTANDING FXTAS AMONG MALES WITH THE FMR1 PREMUTATIONP30HD024064 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI TOLIAS, KIMBERLY R · 1988 to 2013
$29.4M
MOLECULAR PATHOGENESIS STUDIES OF RETT SYNDROMER01NS057819 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI ZOGHBI, HUDA Y · 2006 to 2025
$7.5M
The Roles of Presynaptic Plasticity in Circuit Function and BehaviorP01NS053862 · NINDS · STANFORD UNIVERSITY · PI GARNER, CRAIG C · 2006 to 2010
$6.7M
Comparative genomics of protein structure and functionR01GM079656 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI LICHTARGE, OLIVIER · 2007 to 2019
$4.3M
The Role of Post-Translational Modification in Modulating MeCP2 StabilityF30NS066527 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BAKER, STEVEN A. · 2009 to 2011
$105k
Howard Hughes Medical InstituteNICHD NIH HHS HD024064NICHD NIH HHS P30 HD024064NIGMS NIH HHS R01 GM079656NINDS NIH HHS F30 NS066527NINDS NIH HHS F30NS066527NINDS NIH HHS NS053862NINDS NIH HHS R01 NS057819
6 · The paper itself

Abstract

Mutations in the X-linked MECP2 cause Rett syndrome, a devastating neurological disorder typified by a period of apparently normal development followed by loss of cognitive and psychomotor skills. Data from rare male patients suggest symptom onset and severity can be influenced by the location of the mutation, with amino acids 270 and 273 marking the difference between neonatal encephalopathy and death, on the one hand, and survival with deficits on the other. We therefore generated two mouse models expressing either MeCP2-R270X or MeCP2-G273X. The mice developed phenotypes at strikingly different rates and showed differential ATRX nuclear localization within the nervous system, over time, coinciding with phenotypic progression. We discovered that MeCP2 contains three AT-hook-like domains over a stretch of 250 amino acids, like HMGA DNA-bending proteins; one conserved AT-hook is disrupted in MeCP2-R270X, lending further support to the notion that one of MeCP2's key functions is to alter chromatin structure.

Indexed as

Amino Acid SequenceAnimalsDisease Models, AnimalDNA HelicasesFemaleHeterochromatinMaleMethyl-CpG-Binding Protein 2MiceMice, KnockoutMice, TransgenicMolecular Sequence DataNuclear ProteinsProtein Structure, TertiaryRett SyndromeSequence AlignmentAtrx protein, mouseDNA HelicasesHeterochromatinMECP2 protein, humanMethyl-CpG-Binding Protein 2Nuclear ProteinsX-linked Nuclear Protein

Identifiers

PMID23452848
PMCPMC3641682
OpenAlexW2001420461

What OpenQuestion holds

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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.