Results 141 to 150 of about 172,174 (293)
<i>RPGR</i>-Related Retinopathy: Clinical Features, Molecular Genetics, and Gene Replacement Therapy. [PDF]
Cold Spring Harb Perspect Med, 2023 Awadh Hashem S +3 more
europepmc +1 more source
FEBS Open Bio, EarlyView.Pharmacological inhibition of PERK in a DEN‐induced mouse model of liver cancer does not reduce tumor burden but alters cellular stress signaling. Despite blocking PERK activity, downstream stress responses, including CHOP expression, remain active, suggesting compensatory mechanisms within the unfolded protein response that may influence tumor ...
Ada Lerma‐Clavero +5 more
wiley +1 more source
Recent Advancements in Gene Therapy for Hereditary Retinal Dystrophies
, 2017 Hereditary retinal dystrophies (HRDs) are degenerative diseases of the retina which have marked clinical and genetic heterogeneity. Common presentations among these disorders include night or colour blindness, tunnel vision, and subsequent progression to
ÖNER, Ayşe, Ayşe Öner
core +1 more source
FEBS Open Bio, EarlyView.KIF26B plays an important role in kidney development. We engineered mice lacking the C‐terminal region of KIF26B and found severe kidney defects, including bilateral renal agenesis, similar to full Kif26b knockout mice. The mutation disrupted nephron progenitor condensation and reduced Gdnf‐Wnt11 signaling, showing that the KIF26B C‐terminal region is ...
Yuta Yamamura +19 more
wiley +1 more source
Combined RNA interference and gene replacement therapy targeting MFN2 as proof of principle for the treatment of Charcot-Marie-Tooth type 2A. [PDF]
Cell Mol Life Sci, 2023 Rizzo F +21 more
europepmc +1 more source
FEBS Open Bio, EarlyView.The crystal structure of Borrelia burgdorferi nicotinamidase (PncA/BBE22) reveals the correct full‐length protein initiated from a non‐canonical AUU start codon. The structure validates previous biochemical findings and resolves a long‐standing annotation error, demonstrating that the truncated database sequence is structurally incompatible with the ...
Kalvis Brangulis
wiley +1 more source
FEBS Open Bio, EarlyView.The dual roles of CC and CXC chemokines in distinguishing active, latent, and subclinical tuberculosis were reviewed, along with an evaluation of their potential as diagnostic biomarkers and therapeutic targets to advance precision medicine in tuberculosis management. The graphical abstract was generated with AI assistance (Gemini 3.0).
Xuying Yin, Dangsheng Xiao, Jiezuan Yang
wiley +1 more source
Gene replacement therapy in two Golgi-retained CMT1X mutants before and after the onset of demyelinating neuropathy. [PDF]
Mol Ther Methods Clin Dev, 2023 Kagiava A +7 more
europepmc +1 more source
Aquaporin‐3 and aquaporin‐5 impact the development of pancreatic ductal adenocarcinoma spheroids
FEBS Open Bio, EarlyView.Schematic representation of the role of aquaporin‐3 (AQP3) and aquaporin‐5 (AQP5) in pancreatic ductal adenocarcinoma (PDAC). Both proteins are upregulated in PDAC and are associated with tumor progression and metastatic potential. Silencing AQP3 or AQP5 in PDAC spheroids results in decreased diameter, area, and overall growth, underscoring their key ...
Catarina Pimpão +3 more
wiley +1 more source
Review of cardiac safety in onasemnogene abeparvovec gene replacement therapy: translation from preclinical to clinical findings. [PDF]
Gene Ther, 2023 Chand DH +4 more
europepmc +1 more source