Decoding retinitis pigmentosa: molecular targets and therapy with focus on pre-mRNA splicing

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F68378050%3A_____%2F25%3A00644364" target="_blank" >RIV/68378050:_____/25:00644364 - isvavai.cz</a>

Výsledek na webu

<a href="https://link.springer.com/article/10.1007/s00018-025-05987-0" target="_blank" >https://link.springer.com/article/10.1007/s00018-025-05987-0</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1007/s00018-025-05987-0" target="_blank" >10.1007/s00018-025-05987-0</a>

Jazyk výsledku

angličtina

Název v původním jazyce

Decoding retinitis pigmentosa: molecular targets and therapy with focus on pre-mRNA splicing

Popis výsledku v původním jazyce

Retinitis pigmentosa (RP) is the most common cause of inherited blindness, with mutations in splicing factors playing a significant role in its pathogenesis. Many scientists have been puzzled by the fact that mutations in several key spliceosomal components have such a confined effect on the retina. In this review, we summarize findings gained from studies using cell culture, animal models, and retinal organoids to better understand the molecular mechanisms underlying the tissue specificity of splicing factor dysfunction to retinal degeneration. Although RP currently has no definitive cure, recent advances in gene therapy, antisense oligonucleotides, and cell transplantation are opening new therapeutic approaches to slow disease progression and preserve retinal function. We also discuss the strengths and challenges of current strategies and point to the critical improvements required for their successful clinical application.

Název v anglickém jazyce

Decoding retinitis pigmentosa: molecular targets and therapy with focus on pre-mRNA splicing

Popis výsledku anglicky

Retinitis pigmentosa (RP) is the most common cause of inherited blindness, with mutations in splicing factors playing a significant role in its pathogenesis. Many scientists have been puzzled by the fact that mutations in several key spliceosomal components have such a confined effect on the retina. In this review, we summarize findings gained from studies using cell culture, animal models, and retinal organoids to better understand the molecular mechanisms underlying the tissue specificity of splicing factor dysfunction to retinal degeneration. Although RP currently has no definitive cure, recent advances in gene therapy, antisense oligonucleotides, and cell transplantation are opening new therapeutic approaches to slow disease progression and preserve retinal function. We also discuss the strengths and challenges of current strategies and point to the critical improvements required for their successful clinical application.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

10601 - Cell biology

Projekt

<a href="/cs/project/EH22_008%2F0004575" target="_blank" >EH22_008/0004575: RNA pro terapii</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2025

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Cellular and Molecular Life Sciences

ISSN

1420-682X

e-ISSN

1420-9071

Svazek periodika

83

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

CH - Švýcarská konfederace

Počet stran výsledku

14

Strana od-do

20

Kód UT WoS článku

001651222200001

EID výsledku v databázi Scopus

2-s2.0-105026344723