Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene DOI Creative Commons
Estefanía Caballano‐Infantes,

Laurie Clauzon,

Berta de la Cerda Haynes

и другие.

Stem Cell Research, Год журнала: 2024, Номер unknown, С. 103623 - 103623

Опубликована: Дек. 1, 2024

Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), most prevalent genetic form blindness adults, affecting 1 4,000 individuals globally. In this study, peripheral blood mononuclear cells from patient carrying heterozygous mutation were reprogrammed to generate human iPSC line ESi132-A. This cell was thoroughly characterized for self-renewal and pluripotency. These will be used develop advanced 3D biomodels based on multi-ocular differentiation assess efficacy novel treatments RP including innovative drug therapies.

Язык: Английский

A historical perspective of macroautophagy regulation by biochemical and biomechanical stimuli DOI Creative Commons
Nicolas Dupont, Aurore Claude‐Taupin, Patrice Codogno

и другие.

FEBS Letters, Год журнала: 2023, Номер 598(1), С. 17 - 31

Опубликована: Окт. 1, 2023

Macroautophagy is a lysosomal degradative pathway for intracellular macromolecules, protein aggregates, and organelles. The formation of the autophagosome, double membrane-bound structure that sequesters cargoes before their delivery to lysosome, regulated by several stimuli in multicellular organisms. Pioneering studies rat liver showed importance amino acids, insulin, glucagon controlling macroautophagy. Thereafter, many have deciphered signaling pathways downstream these biochemical control autophagosome formation. Two hubs emerged: kinase mTOR, complex at surface lysosomes which sensitive nutrients hormones; AMPK, cellular energetic status. Besides nutritional, hormonal, fluctuations, organs respond mechanical forces (compression, stretching, shear stress). Recent shown mechanotransduction This regulation engages cell sensors, such as primary cilium, order translate into biological responses.

Язык: Английский

Процитировано

2

Retinal Organoids from Induced Pluripotent Stem Cells of Patients with Inherited Retinal Diseases: A Systematic Review DOI Creative Commons
Yoo Jin Lee, Dong Hyun Jo

Stem Cell Reviews and Reports, Год журнала: 2024, Номер unknown

Опубликована: Окт. 18, 2024

Abstract Background Currently, most inherited retinal diseases lack curative interventions, and available treatment modalities are constrained to symptomatic approaches. Retinal organoid technology has emerged as a method for treating diseases, with growing academic interest in recent years. The purpose of this review was systematically organize the current protocols generating organoids using induced pluripotent stem cells from patients disease investigate application research. Methods Data were collected PubMed, Scopus, Web Science databases keyword search. main search term used “retinal organoid,” accompanied by secondary keywords such “optic cup,” “three-dimensional,” “self-organizing.” final conducted on October 2, 2024. Results Of 2,129 studies retrieved, 130 included qualitative synthesis. generation research use five major approaches, categorized into 3D combination 2D/3D implemented modifications. Disease phenotypes have been successfully reproduced via individuals facilitating progression novel therapeutic developments. Cells obtained cell therapy, progress toward their potential integration clinical practice is underway. Considering applications, shown promise across various domains. Conclusion In systematic review, we organized diseases. applications including modeling, screening therapies, replacement therapy. Further advancements would make clinically significant tool Graphical

Язык: Английский

Процитировано

0

Autophagy and Exocytosis of Lipofuscin Into the Basolateral Extracellular Space of Human Retinal Pigment Epithelium From Fetal Development to Adolescence DOI Creative Commons

Saeed Shahhossein-Dastjerdi,

Mark E. Koina, George Fatseas

и другие.

Investigative Ophthalmology & Visual Science, Год журнала: 2024, Номер 65(4), С. 32 - 32

Опубликована: Апрель 22, 2024

To undertake the first ultrastructural characterization of human retinal pigment epithelial (RPE) differentiation from fetal development to adolescence.

Язык: Английский

Процитировано

0

Generation of the human iPSC line ESi132-A from a patient with retinitis pigmentosa caused by a mutation in the PRPF31 gene DOI Creative Commons
Estefanía Caballano‐Infantes,

Laurie Clauzon,

Berta de la Cerda Haynes

и другие.

Stem Cell Research, Год журнала: 2024, Номер unknown, С. 103623 - 103623

Опубликована: Дек. 1, 2024

Mutations in the PRPF31 gene are a well-known cause of autosomal dominant retinitis pigmentosa (RP), most prevalent genetic form blindness adults, affecting 1 4,000 individuals globally. In this study, peripheral blood mononuclear cells from patient carrying heterozygous mutation were reprogrammed to generate human iPSC line ESi132-A. This cell was thoroughly characterized for self-renewal and pluripotency. These will be used develop advanced 3D biomodels based on multi-ocular differentiation assess efficacy novel treatments RP including innovative drug therapies.

Язык: Английский

Процитировано

0