(Q35221624)

7 August 2017

title

Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy (English)

1 reference

7 August 2017

main subject

spinal muscular atrophy

1 reference

Daniel Haehnke

38

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Martin Ebeling

41

object named as

Martin Ebeling

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7 August 2017

35

Lee L Rubin

1 reference

7 August 2017

Nikolai A Naryshkin

1

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7 August 2017

Marla Weetall

2

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7 August 2017

Amal Dakka

3

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7 August 2017

Jana Narasimhan

4

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7 August 2017

Xin Zhao

5

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7 August 2017

Zhihua Feng

6

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7 August 2017

Karen K Y Ling

7

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7 August 2017

Gary M Karp

8

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7 August 2017

Hongyan Qi

9

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7 August 2017

Matthew G Woll

10

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7 August 2017

Guangming Chen

11

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7 August 2017

Nanjing Zhang

12

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7 August 2017

Vijayalakshmi Gabbeta

13

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7 August 2017

Priya Vazirani

14

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7 August 2017

Anuradha Bhattacharyya

15

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7 August 2017

Bansri Furia

16

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7 August 2017

Nicole Risher

17

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7 August 2017

Josephine Sheedy

18

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7 August 2017

Ronald Kong

19

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7 August 2017

Jiyuan Ma

20

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7 August 2017

Anthony Turpoff

21

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7 August 2017

Chang-Sun Lee

22

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7 August 2017

Xiaoyan Zhang

23

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7 August 2017

Young-Choon Moon

24

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7 August 2017

Panayiota Trifillis

25

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7 August 2017

Ellen M Welch

26

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7 August 2017

Joseph M Colacino

27

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7 August 2017

John Babiak

28

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7 August 2017

Neil G Almstead

29

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7 August 2017

Stuart W Peltz

30

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7 August 2017

Loren A Eng

31

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7 August 2017

Karen S Chen

32

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7 August 2017

Jesse L Mull

33

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7 August 2017

Maureen S Lynes

34

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7 August 2017

Paulo Fontoura

36

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7 August 2017

Luca Santarelli

37

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7 August 2017

Kathleen D McCarthy

39

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7 August 2017

Roland Schmucki

40

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7 August 2017

Manaswini Sivaramakrishnan

42

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7 August 2017

Chien-Ping Ko

43

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7 August 2017

Sergey V Paushkin

44

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7 August 2017

Hasane Ratni

45

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7 August 2017

Irene Gerlach

46

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7 August 2017

Anirvan Ghosh

47

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7 August 2017

Friedrich Metzger

48

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7 August 2017

language of work or name

English

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publication date

1 August 2014

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7 August 2017

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7 August 2017

volume

345

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7 August 2017

issue

6197

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7 August 2017

page(s)

688-693

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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72,400 specimens

7 August 2017

cites work

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

The neurobiology of childhood spinal muscular atrophy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Spinal muscular atrophy: a clinical and research update

21 January 2018

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https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Spinal muscular atrophy: a timely review

21 January 2018

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https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

New therapeutic approaches to spinal muscular atrophy

21 January 2018

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https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Consensus Statement for Standard of Care in Spinal Muscular Atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Identification and characterization of a spinal muscular atrophy-determining gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

A degron created by SMN2 exon 7 skipping is a principal contributor to spinal muscular atrophy severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Regulation of SMN protein stability

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Spinal muscular atrophy: the role of SMN in axonal mRNA regulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

The SMN complex, an assemblyosome of ribonucleoproteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Molecular analysis of spinal muscular atrophy and modification of the phenotype by SMN2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

A population-based study of genotypic and phenotypic variability in children with spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

A novel cell immunoassay to measure survival of motor neurons protein in blood cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Human DNA polymerase N (POLN) is a low fidelity enzyme capable of error-free bypass of 5S-thymine glycol.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

DNA polymerase POLN participates in cross-link repair and homologous recombination

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Evidence for the involvement of human DNA polymerase N in the repair of DNA interstrand cross-links

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

A comprehensive survey of 3' animal miRNA modification events and a possible role for 3' adenylation in modulating miRNA targeting effectiveness

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

MicroRNA assassins: factors that regulate the disappearance of miRNAs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Selective stabilization of mammalian microRNAs by 3' adenylation mediated by the cytoplasmic poly(A) polymerase GLD-2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

A possible new mechanism for the control of miRNA expression in neurons

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Modulating role of RNA structure in alternative splicing of a critical exon in the spinal muscular atrophy genes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Determinants of exon 7 splicing in the spinal muscular atrophy genes, SMN1 and SMN2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

The regulation and regulatory activities of alternative splicing of the SMN gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

The biflavonoid isoginkgetin is a general inhibitor of Pre-mRNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Stalling of spliceosome assembly at distinct stages by small-molecule inhibitors of protein acetylation and deacetylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Spliceostatin A targets SF3b and inhibits both splicing and nuclear retention of pre-mRNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Identification of SAP155 as the Target of GEX1A (Herboxidiene), an Antitumor Natural Product

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

A quantitative high-throughput in vitro splicing assay identifies inhibitors of spliceosome catalysis

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Small molecule amiloride modulates oncogenic RNA alternative splicing to devitalize human cancer cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Rapid-response splicing reporter screens identify differential regulators of constitutive and alternative splicing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

An intronic structure enabled by a long-distance interaction serves as a novel target for splicing correction in spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Antisense oligonucleotides delivered to the mouse CNS ameliorate symptoms of severe spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Pathological impact of SMN2 mis-splicing in adult SMA mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

HTRF: A technology tailored for drug discovery - a review of theoretical aspects and recent applications

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

An in vivo reporter system for measuring increased inclusion of exon 7 in SMN2 mRNA: potential therapy of SMA

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

A screen for regulators of survival of motor neuron protein levels

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Fast gapped-read alignment with Bowtie 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Mapping and quantifying mammalian transcriptomes by RNA-Seq

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

GMAP: a genomic mapping and alignment program for mRNA and EST sequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Fast and SNP-tolerant detection of complex variants and splicing in short reads

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

The Sequence Alignment/Map format and SAMtools

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1126%2FSCIENCE.1250127

21 January 2018

Identifiers

DOI

10.1126/SCIENCE.1250127

1 reference

release_6mnlwtj6bjbihbfu4rgttcdpgq

7 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/6mnlwtj6bjbihbfu4rgttcdpgq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference