Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial (Q28262431)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19854499%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

title

Age-dependent effects of RPE65 gene therapy for Leber's congenital amaurosis: a phase 1 dose-escalation trial (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19854499%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

main subject

gene therapy

0 references

phase I clinical trial

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0 references

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19854499%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

Alberto Auricchio

3

1 reference

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10 February 2020

Eric A Pierce

5

1 reference

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10 February 2020

Francesco Testa

6

1 reference

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10 February 2020

Sandro Banfi

13

1 reference

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10 February 2020

Frauke Coppieters

20

1 reference

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10 February 2020

Elfride De Baere

21

1 reference

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10 February 2020

Enrico M. Surace

24

1 reference

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10 February 2020

T. Michael Redmond

27

1 reference

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10 February 2020

Edwin M. Stone

28

1 reference

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10 February 2020

Francesca Simonelli

32

1 reference

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10 February 2020

1

Albert M Maguire

1 reference

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10 February 2020

12

Kathleen A Marshall

1 reference

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10 February 2020

10

Settimio Rossi

1 reference

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10 February 2020

7

Federico Mingozzi

1 reference

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10 February 2020

31

Bart P Leroy

1 reference

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10 February 2020

author name string

J Fraser Wright

4

1 reference

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10 February 2020

Jeannette L Bennicelli

8

1 reference

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10 February 2020

Gui-shuang Ying

9

1 reference

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10 February 2020

Ann Fulton

11

1 reference

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10 February 2020

Daniel C Chung

14

1 reference

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10 February 2020

Jessica I W Morgan

15

1 reference

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10 February 2020

Bernd Hauck

16

1 reference

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10 February 2020

Olga Zelenaia

17

1 reference

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10 February 2020

Xiaosong Zhu

18

1 reference

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10 February 2020

Leslie Raffini

19

1 reference

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10 February 2020

Kenneth S Shindler

22

1 reference

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10 February 2020

Nicholas J Volpe

23

1 reference

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10 February 2020

Carmela Acerra

25

1 reference

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10 February 2020

Arkady Lyubarsky

26

1 reference

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10 February 2020

Junwei Sun

29

1 reference

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10 February 2020

Jean Bennett

33

1 reference

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10 February 2020

Jennifer Wellman McDonnell

30

1 reference

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10 February 2020

language of work or name

English

0 references

publication date

23 October 2009

1 reference

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10 February 2020

1 reference

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10 February 2020

volume

374

1 reference

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10 February 2020

issue

9701

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10 February 2020

page(s)

1597-1605

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Gene therapy for Leber's congenital amaurosis is safe and effective through 1.5 years after vector administration

10 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Vision 1 year after gene therapy for Leber's congenital amaurosis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Effect of gene therapy on visual function in Leber's congenital amaurosis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Safety and efficacy of gene transfer for Leber's congenital amaurosis

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

RPE65 is the isomerohydrolase in the retinoid visual cycle

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Rpe65 is the retinoid isomerase in bovine retinal pigment epithelium

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Amplification and kinetics of the activation steps in phototransduction

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Leber congenital amaurosis: genes, proteins and disease mechanisms

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Reversal of blindness in animal models of leber congenital amaurosis using optimized AAV2-mediated gene transfer

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Mutation of key residues of RPE65 abolishes its enzymatic role as isomerohydrolase in the visual cycle.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Impairment of the transient pupillary light reflex in Rpe65(-/-) mice and humans with leber congenital amaurosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Leber congenital amaurosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Eye movement recordings as an effectiveness indicator of gene therapy in RPE65-deficient canines: implications for the ocular motor system

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

In utero gene therapy rescues vision in a murine model of congenital blindness

27 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4492302

Rpe65 is necessary for production of 11-cis-vitamin A in the retinal visual cycle.

27 November 2018

1 reference

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Natural course of retinitis pigmentosa over a three-year interval

27 November 2018

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Test-retest reliability of the multifocal electroretinogram and humphrey visual fields in patients with retinitis pigmentosa

27 November 2018

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Crossref

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961836-5

7 January 2021

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Case 15-2009: a man with coma after cardiac arrest

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FS0140-6736%2809%2961836-5

7 January 2021

inferred from DOI database lookup

Latency of the pupil light reflex: sample rate, stimulus intensity, and variation in normal subjects

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19854499

12 December 2020

inferred from PubMed ID database lookup

Early-onset severe rod-cone dystrophy in young children with RPE65 mutations

1 reference

PubMed

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inferred from PubMed ID database lookup

Identifiers

DOI

10.1016/S0140-6736(09)61836-5

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19854499%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19854499%20AND%20SRC:MED&resulttype=core&format=json

10 February 2020

PubMed publication ID

19854499

2 references