Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis (Q38432287)

http://europepmc.org/abstract/PMC/5576451

16 June 2018

title

Poly(GP) proteins are a useful pharmacodynamic marker for C9ORF72-associated amyotrophic lateral sclerosis (English)

1 reference

http://europepmc.org/abstract/PMC/5576451

16 June 2018

main subject

amyotrophic lateral sclerosis

0 references

1 reference

74

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3 June 2020

Yong-Jie Zhang

5

1 reference

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3 June 2020

Mercedes Prudencio

6

1 reference

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3 June 2020

Yari Carlomagno

7

1 reference

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3 June 2020

Aliesha Garrett

11

1 reference

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3 June 2020

Luc Pregent

13

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3 June 2020

Veronique Belzil

14

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3 June 2020

Marka van Blitterswijk

15

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3 June 2020

Monica Castanedes-Casey

21

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3 June 2020

Linda Rousseau

22

1 reference

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3 June 2020

Virginia Phillips

23

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3 June 2020

Rosa Rademakers

25

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3 June 2020

Pamela Desaro

30

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3 June 2020

Carla Palmucci

31

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3 June 2020

Amelia Robertson

32

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3 June 2020

David Lacomis

39

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3 June 2020

Shafeeq S Ladha

40

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3 June 2020

Jon B. Toledo

44

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3 June 2020

Cinzia Tiloca

46

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3 June 2020

Barbara Poletti

48

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3 June 2020

Federica Solca

49

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3 June 2020

Alessandro Prelle

50

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Jennifer Jockel-Balsarotti

3 June 2020

52

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3 June 2020

Weixing Yang

56

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3 June 2020

Denitza Raitcheva

57

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3 June 2020

William Hu

69

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3 June 2020

Michael Benatar

73

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3 June 2020

Leonard Petrucelli

79

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3 June 2020

71

Bryan J Traynor

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3 June 2020

65

Timothy M Miller

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3 June 2020

66

John Q Trojanowski

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3 June 2020

63

Robert H Brown

1 reference

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3 June 2020

author name string

Tania F Gendron

1

1 reference

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3 June 2020

Jeannie Chew

2

1 reference

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3 June 2020

Jeannette N Stankowski

3

1 reference

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3 June 2020

Lindsey R Hayes

4

1 reference

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3 June 2020

Lillian M Daughrity

8

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3 June 2020

Karen Jansen-West

9

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3 June 2020

Emilie A Perkerson

10

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3 June 2020

Casey Cook

12

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3 June 2020

Lilia J Tabassian

16

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3 June 2020

Chris W Lee

17

1 reference

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3 June 2020

Mei Yue

18

1 reference

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3 June 2020

Jimei Tong

19

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3 June 2020

Yuping Song

20

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3 June 2020

Dennis W Dickson

24

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3 June 2020

John D Fryer

26

1 reference

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3 June 2020

Beth K Rush

27

1 reference

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3 June 2020

Otto Pedraza

28

1 reference

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3 June 2020

Ana M Caputo

29

1 reference

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3 June 2020

Michael G Heckman

33

1 reference

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3 June 2020

Nancy N Diehl

34

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3 June 2020

Edythe Wiggs

35

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3 June 2020

Michael Tierney

36

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3 June 2020

Laura Braun

37

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3 June 2020

Jennifer Farren

38

1 reference

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3 June 2020

Christina N Fournier

41

1 reference

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3 June 2020

Leo F McCluskey

42

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3 June 2020

Lauren B Elman

43

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3 June 2020

Jennifer D McBride

45

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3 June 2020

Claudia Morelli

47

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3 June 2020

Joanne Wuu

51

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3 June 2020

Frank Rigo

53

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3 June 2020

Christine Ambrose

54

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3 June 2020

Abhishek Datta

55

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3 June 2020

Giovanna Antognetti

58

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3 June 2020

Alexander McCampbell

59

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3 June 2020

John C Van Swieten

60

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3 June 2020

Robert Bowser

64

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3 June 2020

James D Berry

68

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3 June 2020

Antonia Ratti

70

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3 June 2020

Matthew D Disney

72

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3 June 2020

Jonathan D Glass

75

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3 June 2020

Mary Kay Floeter

76

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3 June 2020

Jeffrey D Rothstein

77

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3 June 2020

Kevin B Boylan

78

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3 June 2020

Bruce L Miller

61

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3 June 2020

Adam L Boxer

62

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3 June 2020

Murray Grossman

67

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3 June 2020

language of work or name

English

0 references

publication date

1 March 2017

1 reference

http://europepmc.org/abstract/PMC/5576451

16 June 2018

published in

Science Translational Medicine

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356511%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

volume

9

1 reference

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3 June 2020

issue

383

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356511%20AND%20SRC:MED&resulttype=core&format=json

Timing and significance of pathological features in C9orf72 expansion-associated frontotemporal dementia

3 June 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

There has been an awakening: Emerging mechanisms of C9orf72 mutations in FTD/ALS

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

C9orf72 BAC Transgenic Mice Display Typical Pathologic Features of ALS/FTD

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Cerebellar c9RAN proteins associate with clinical and neuropathological characteristics of C9ORF72 repeat expansion carriers

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Distribution of dipeptide repeat proteins in cellular models and C9orf72 mutation cases suggests link to transcriptional silencing

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Neurodegeneration. C9ORF72 repeat expansions in mice cause TDP-43 pathology, neuronal loss, and behavioral deficits

23 June 2018

1 reference

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Presymptomatic cognitive and neuroanatomical changes in genetic frontotemporal dementia in the Genetic Frontotemporal dementia Initiative (GENFI) study: a cross-sectional analysis.

23 June 2018

1 reference

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Discovery of a biomarker and lead small molecules to target r(GGGGCC)-associated defects in c9FTD/ALS.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Mechanisms of toxicity in C9FTLD/ALS.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

RAN proteins and RNA foci from antisense transcripts in C9ORF72 ALS and frontotemporal dementia

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Targeted degradation of sense and antisense C9orf72 RNA foci as therapy for ALS and frontotemporal degeneration

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Targeting RNA foci in iPSC-derived motor neurons from ALS patients with a C9ORF72 repeat expansion

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

RNA toxicity from the ALS/FTD C9ORF72 expansion is mitigated by antisense intervention

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Antisense transcripts of the expanded C9ORF72 hexanucleotide repeat form nuclear RNA foci and undergo repeat-associated non-ATG translation in c9FTD/ALS

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Unconventional translation of C9ORF72 GGGGCC expansion generates insoluble polypeptides specific to c9FTD/ALS

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

The C9orf72 GGGGCC repeat is translated into aggregating dipeptide-repeat proteins in FTLD/ALS.

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts

23 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Brain morphologic changes in asymptomatic C9orf72 repeat expansion carriers.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Bidirectional transcripts of the expanded C9orf72 hexanucleotide repeat are translated into aggregating dipeptide repeat proteins

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Pathophysiological insights into ALS with C9ORF72 expansions.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

C9ORF72 repeat expansions in the frontotemporal dementias spectrum of diseases: a flow-chart for genetic testing

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

Consensus criteria for the diagnosis of frontotemporal cognitive and behavioural syndromes in amyotrophic lateral sclerosis.

31 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5576451

10.1126/SCITRANSLMED.AAI7866

31 August 2018

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356511%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:28356511%20AND%20SRC:MED&resulttype=core&format=json

3 June 2020

PubMed publication ID

28356511

1 reference