[HTML][HTML] Advances in gene therapy hold promise for treating hereditary hearing loss
L Jiang, D Wang, Y He, Y Shu - Molecular Therapy, 2023 - cell.com
Gene therapy focuses on genetic modification to produce therapeutic effects or treat
diseases by repairing or reconstructing genetic material, thus being expected to be the most …
diseases by repairing or reconstructing genetic material, thus being expected to be the most …
Practical Recommendations for the Selection of Patients for Individualized Splice‐Switching ASO‐Based Treatments
B Zardetto, MC Lauffer, W van Roon-Mom… - Human …, 2024 - Wiley Online Library
Although around 6% of the world's population is affected by rare diseases, only a small
number of disease‐modifying therapies are available. In recent years, antisense …
number of disease‐modifying therapies are available. In recent years, antisense …
[HTML][HTML] Recent Therapeutic Progress and Future Perspectives for the Treatment of Hearing Loss
J Lye, DS Delaney, FK Leith, VS Sardesai… - Biomedicines, 2023 - mdpi.com
Up to 1.5 billion people worldwide suffer from various forms of hearing loss, with an
additional 1.1 billion people at risk from various insults such as increased consumption of …
additional 1.1 billion people at risk from various insults such as increased consumption of …
Development and validation of AI/ML derived splice-switching oligonucleotides
AD Fronk, MA Manzanares, P Zheng… - Molecular Systems …, 2024 - embopress.org
Splice-switching oligonucleotides (SSOs) are antisense compounds that act directly on pre-
mRNA to modulate alternative splicing (AS). This study demonstrates the value that artificial …
mRNA to modulate alternative splicing (AS). This study demonstrates the value that artificial …
Understanding and Rescuing the Splicing Defect Caused by the Frequent ABCA4 Variant c.4253+43G>A Underlying Stargardt Disease
N Suárez-Herrera, A Garanto… - nucleic acid therapeutics, 2024 - liebertpub.com
Pathogenic variants in ABCA4 are the underlying molecular cause of Stargardt disease
(STGD1), an autosomal recessive macular dystrophy characterized by a progressive loss of …
(STGD1), an autosomal recessive macular dystrophy characterized by a progressive loss of …
HnRNPR strongly represses splicing of a critical exon associated with spinal muscular atrophy through binding to an exonic AU-rich element
T Jiang, R Qu, X Liu, Y Hou, L Wang… - Journal of Medical …, 2023 - jmg.bmj.com
Background Spinal muscular atrophy (SMA) is a motor neuron disease caused by mutations
of survival of motor neuron 1 (SMN1) gene, which encodes the SMN protein. SMN2, a nearly …
of survival of motor neuron 1 (SMN1) gene, which encodes the SMN protein. SMN2, a nearly …
[HTML][HTML] Chloride/Multiple Anion Exchanger SLC26A Family: Systemic Roles of SLC26A4 in Various Organs
Solute carrier family 26 member 4 (SLC26A4) is a member of the SLC26A transporter family
and is expressed in various tissues, including the airway epithelium, kidney, thyroid, and …
and is expressed in various tissues, including the airway epithelium, kidney, thyroid, and …
[HTML][HTML] Alternative splicing in shaping the molecular landscape of the cochlea
KS Kim, HY Koo, J Bok - Frontiers in Cell and Developmental Biology, 2023 - frontiersin.org
The cochlea is a complex organ comprising diverse cell types with highly specialized
morphology and function. Until now, the molecular underpinnings of its specializations have …
morphology and function. Until now, the molecular underpinnings of its specializations have …