Human
HPSE2
adeno-associated viral vector
gene therapy
heparanase 2
lower urinary tract
medicine
mouse
urinary bladder
Journal
eLife
ISSN: 2050-084X
Titre abrégé: Elife
Pays: England
ID NLM: 101579614
Informations de publication
Date de publication:
11 Jul 2024
11 Jul 2024
Historique:
medline:
11
7
2024
pubmed:
11
7
2024
entrez:
11
7
2024
Statut:
epublish
Résumé
Rare early-onset lower urinary tract disorders include defects of functional maturation of the bladder. Current treatments do not target the primary pathobiology of these diseases. Some have a monogenic basis, such as urofacial, or Ochoa, syndrome (UFS). Here, the bladder does not empty fully because of incomplete relaxation of its outflow tract, and subsequent urosepsis can cause kidney failure. UFS is associated with biallelic variants of
Identifiants
pubmed: 38990208
doi: 10.7554/eLife.91828
pii: 91828
doi:
pii:
Substances chimiques
Glucuronidase
EC 3.2.1.31
heparanase
EC 3.2.1.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Medical Research Council
ID : MR/L002744/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : MR/T016809/1
Pays : United Kingdom
Organisme : Medical Research Council
ID : DTP
Pays : United Kingdom
Organisme : Kidney Research UK
ID : Paed_RP/002/20190925
Organisme : Kidney Research UK
ID : Paed_RP/005/20190925
Organisme : Newlife - The Charity for Disabled Children
ID : 15-15/03
Organisme : Newlife - The Charity for Disabled Children
ID : 15-16/06
Organisme : Manchester Biomedical Research Centre
ID : IS-BRC-1215-20007
Organisme : Kidneys for Life
ID : start-up grant 2018
Organisme : Kidneys for Life
ID : project grant 2023
Organisme : LifeArc
ID : Pathfinder Award
Organisme : Medical Research Council
ID : Rare Disease Research Platform MR/Y008340/1
Pays : United Kingdom
Informations de copyright
© 2024, Lopes et al.
Déclaration de conflit d'intérêts
FL, CG, BJ, SA, AL, AG, WN, AW, NR No competing interests declared, SW is a co-founder of Bloomsbury Genetic Therapies and is a member of the SMAB of Forge Biologics