Results 61 to 70 of about 7,638 (169)

Chorioretinal atrophy following voretigene neparvovec despite the presence of fundus autofluorescence

Molecular Genetics & Genomic Medicine, 2022
Introduction Leber congenital amaurosis (LCA) type 2, due to disease‐causing variants in RPE65, is characterized by severe visual loss in early infancy. Current treatments include voretigene neparvovec‐rzyl (VN) for RPE65‐associated LCA.
Masha Kolesnikova, Jose Ronaldo Lima de Carvalho Jr., Rait Parmann, Angela H. Kim, Vinit B. Mahajan, Stephen H. Tsang, Janet R. Sparrow   +6 more
doaj   +1 more source

Mesenchymal Stem Cell‐Derived Extracellular Vesicles Ameliorate NaIO3‐Induced Dry AMD by Delivering miR‐486‐3p to Inhibit Lipocalin‐2‐Mediated Ferroptosis

MedComm, Volume 7, Issue 10, October 2026.
Our study reveals a novel mechanism by which MSC‐derived EVs alleviate NaIO3‐induced dry AMD‐like pathology. MSC‐EVs deliver miR‐486‐3p into retinal cells to directly inhibit the ferroptosis‐promoting target gene Lcn2. Concurrently, downregulated Lcn2 restores intracellular Gpx4 expression, thereby suppressing ferroptosis and rescuing retinal ...
Zheng Li, Tujing Zhao, Lin Ye, Runze Li, Huaping Tian, Ruilin Liao, Lulin Huang   +6 more
wiley   +1 more source

Predicting the pathogenicity of RPE65 mutations

, 2009
To assist in distinguishing disease-causing mutations from nonpathogenic polymorphisms, we developed an objective algorithm to calculate an "estimate of pathogenic probability" (EPP) based on the prevalence of a specific variation, its segregation within
Schindler, E I, Fishman, G A, Iannaccone, A, Weleber, R G, Jacobson, S G, Travis, Gabriel H, Mullins, R F, Lam, B L, Jin, M, Philp, A R, Li, S, Stone, Edwin M   +11 more
core   +1 more source

Retbindin Dynamically Redistributes to Preserve Retinal Flavin‐Dependent Homeostasis in Response to Riboflavin Availability and Circadian Demand

The FASEB Journal, Volume 40, Issue 18, 30 September 2026.
The retina is a part of the central nervous system, has remarkably high energy demands that require efficient retinal metabolism. Dysregulation of retinal metabolism disrupts energy supply and redox balance, leading to the pathogenesis of diverse retinal diseases. Riboflavin and its cofactors, flavin mononucleotide (FMN) and flavin adenine dinucleotide
Xue Zhao, Mustafa S. Makia, Gennadiy P. Moiseyev, Muna I. Naash, Muayyad R. Al‐Ubaidi   +4 more
wiley   +1 more source

The LV-RPE65 Vector Restores the ERG Response of the Rpe65^−/− Mice

, 2013
Rpe65−/− mice were treated P5 by an intravitreal injection of 20 ng of lentiviral vector. (A) ERG response to single flashes was recorded in scotopic condition at 2 mo of age.
Alexis-Pierre Bemelmans (66149), Sylvain V Crippa (66151), Francis L Munier (66154), Andreas Wenzel (66155), Janis Lem (66153), Mathias W Seeliger (32419), Corinne Kostic (66150), William W Hauswirth (66152), Yvan Arsenijevic (49871)   +8 more
core   +1 more source

Status and future of recombinant adeno‐associated virus vector manufacturing

Biotechnology Progress, Volume 42, Issue 5, September/October 2026.
Abstract Sixty years of adeno‐associated virus (AAV) research illustrates a trajectory marked by basic science exploration, iterative innovation, persistent challenges, a number of clinical setbacks, as well as commercial therapeutic triumphs. This continual evolution has led to recombinant AAV (rAAV) becoming a cornerstone of modern gene therapy ...
Frank Agbogbo, David Dismuke
wiley   +1 more source

The findings of optical coherence tomography of retinal degeneration in relation to the morphological and electroretinographic features in RPE65-/- mice.

PLoS ONE, 2019
PurposeMutations of the gene encoding RPE65 cause Leber congenital amaurosis (LCA) retinitis pigmentosa (RP). The optical coherence tomography (OCT) is increasingly utilized to noninvasively evaluate various types of retinal diseases, including RP.
Reiko Tanabu, Kota Sato, Natsuki Monai, Kodai Yamauchi, Takayuki Gonome, Yuting Xie, Shizuka Takahashi, Sei-Ichi Ishiguro, Mitsuru Nakazawa   +8 more
doaj   +1 more source

RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy

Orphanet Journal of Rare Diseases, 2021
Background This research aimed to establish recommendations on the clinical and genetic characteristics necessary to confirm patient eligibility for gene supplementation with voretigene neparvovec.
Andrea Sodi, Sandro Banfi, Francesco Testa, Michele Della Corte, Ilaria Passerini, Elisabetta Pelo, Settimio Rossi, Francesca Simonelli, Italian IRD Working Group   +8 more
doaj   +1 more source

A succinylation‐based classifier predicts chemotherapy response in prostate cancer and reveals KAT2A as a therapeutic target

Clinical and Translational Medicine, Volume 16, Issue 7, July 2026.
A transcriptome‐based succinylation score (SS) stratifies prostate cancer by prognosis, immune contexture, and chemotherapy sensitivity. KAT2A is enriched in low‐SS, chemoresistant tumours and promotes resistance by succinylating PIK3R2. KAT2A‐mediated succinylation competitively inhibits PIK3R2 ubiquitination, stabilising PIK3R2 and driving ...
Antao Dong, Wei Hu, Zhihui Lu, Liangliang Li, Kun Liu, Shiyao Feng, Dongdong Xie   +6 more
wiley   +1 more source

Delivery Systems for Therapeutic Genome Editing: Challenges, Innovations, and Future Perspectives

MedComm, Volume 7, Issue 7, July 2026.
Schematic illustration of four emerging CRISPR–Cas delivery platforms defined by distinct design principles and structural features: virus‐mimicking nanosystems (e.g., VLPs), cell‐derived extracellular vesicles, cell‐penetrating peptides, and stimuli‐responsive scaffolds. These platforms enable spatiotemporally controlled delivery of RNPs, mRNA, or DNA
Meijia Yang, Yiqiong Song, Ziyang Wang, Ke Chao, Lifeng Li, Xu Zhang, Xiaoran Duan, Chenglong Yu, Ruyue Xue, Jie Zhao   +9 more
wiley   +1 more source