Florie Borel
Overview
Explore the profile of Florie Borel including associated specialties, affiliations and a list of published articles.
Author names and details appear as published. Due to indexing inconsistencies, multiple individuals may share a name, and a single author may have variations. MedLuna displays this data as publicly available, without modification or verification
Snapshot
Snapshot
Articles
20
Citations
669
Followers
0
Related Specialties
Related Specialties
Top 10 Co-Authors
Top 10 Co-Authors
Published In
Affiliations
Affiliations
Soon will be listed here.
Recent Articles
1.
Zieger M, Borel F, Greer C, Gernoux G, Blackwood M, Flotte T, et al.
Mol Ther Methods Clin Dev
. 2022 May;
25:425-438.
PMID: 35592360
α-antitrypsin deficiency is a rare genetic condition that can cause liver and/or lung disease. There is currently no cure for this disorder, although repeated infusions of plasma-purified protein may slow...
2.
Piccolo P, Ferriero R, Barbato A, Attanasio S, Monti M, Perna C, et al.
Proc Natl Acad Sci U S A
. 2021 Mar;
118(10).
PMID: 33649241
α1-Antitrypsin (AAT) deficiency is a common genetic disease presenting with lung and liver diseases. AAT deficiency results from pathogenic variants in the gene encoding AAT and the common mutant Z...
3.
Borel F, Mueller C
Methods Mol Biol
. 2019 Feb;
1950:3-18.
PMID: 30783965
Adeno-associated viral vectors have emerged as an important tool for human gene therapy, having demonstrated high transduction efficiency in a broad range of target tissues, a good safety profile in...
4.
Borel F, Adams E, Mueller C
Methods Mol Biol
. 2019 Feb;
1937:295-303.
PMID: 30706405
This protocol describes a method of delivering adeno-associated viral (AAV) vectors to the intrathecal space of nonhuman primates for CNS-directed gene therapy. It includes the surgical implantation of the catheter,...
5.
Borel F, Gernoux G, Sun H, Stock R, Blackwood M, Brown Jr R, et al.
Sci Transl Med
. 2018 Nov;
10(465).
PMID: 30381409
Amyotrophic lateral sclerosis (ALS) is a fatal neurological disease caused by degeneration of motor neurons leading to rapidly progressive paralysis. About 10% of cases are caused by gain-of-function mutations that...
6.
Borel F, Sun H, Zieger M, Cox A, Cardozo B, Li W, et al.
Proc Natl Acad Sci U S A
. 2018 Feb;
115(11):2788-2793.
PMID: 29453277
Chronic obstructive pulmonary disease affects 10% of the worldwide population, and the leading genetic cause is α-1 antitrypsin (AAT) deficiency. Due to the complexity of the murine locus, which includes...
7.
Pfister E, DiNardo N, Mondo E, Borel F, Conroy F, Fraser C, et al.
Hum Gene Ther
. 2017 Dec;
29(6):663-673.
PMID: 29207890
Huntington's disease (HD) is a fatal neurodegenerative disease caused by a genetic expansion of the CAG repeat region in the huntingtin (HTT) gene. Studies in HD mouse models have shown...
8.
Borel F, Tang Q, Gernoux G, Greer C, Wang Z, Barzel A, et al.
Mol Ther
. 2017 Oct;
25(11):2477-2489.
PMID: 29032169
Hepatocytes represent an important target for gene therapy and editing of single-gene disorders. In α-1 antitrypsin (AAT) deficiency, one missense mutation results in impaired secretion of AAT. In most patients,...
9.
Borel F, Tang Q, Mueller C
Methods Mol Biol
. 2017 Jul;
1639:223-226.
PMID: 28752462
This protocol describes an enzyme-linked immunosorbent assay (ELISA) to specifically detect Z-alpha-1 antitrypsin (AAT), the most common protein variant associated with alpha-1 antitrypsin deficiency. This "sandwich" ELISA relies on an...
10.
Borel F, Mueller C
Methods Mol Biol
. 2017 Jul;
1639:107-114.
PMID: 28752450
This protocol describes the design, cloning, and in vitro screening of artificial microRNAs (miRNAs) to silence alpha-1 antitrypsin (AAT). This method would be of interest to silence AAT in a...