C9orf72-mediated ALS and FTD: multiple pathways to disease
R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
Converging pathways in neurodegeneration, from genetics to mechanisms
L Gan, MR Cookson, L Petrucelli, AR La Spada - Nature neuroscience, 2018 - nature.com
Neurodegenerative diseases cause progressive loss of cognitive and/or motor function and
pose major challenges for societies with rapidly aging populations. Human genetics studies …
pose major challenges for societies with rapidly aging populations. Human genetics studies …
Disruption of RNA metabolism in neurological diseases and emerging therapeutic interventions
RNA binding proteins are critical to the maintenance of the transcriptome via controlled
regulation of RNA processing and transport. Alterations of these proteins impact multiple …
regulation of RNA processing and transport. Alterations of these proteins impact multiple …
Post-transcriptional regulation of gene expression and human disease
AH Corbett - Current opinion in cell biology, 2018 - Elsevier
A large number of mutations in genes that encode RNA binding proteins cause human
disease. Many of these RNA binding proteins mediate key steps in post-transcriptional …
disease. Many of these RNA binding proteins mediate key steps in post-transcriptional …
Expansion of GGC repeat in GIPC1 is associated with oculopharyngodistal myopathy
Oculopharyngodistal myopathy (OPDM) is an adult-onset inherited neuromuscular disorder
characterized by progressive ptosis, external ophthalmoplegia, and weakness of the …
characterized by progressive ptosis, external ophthalmoplegia, and weakness of the …
Gene therapy in amyotrophic lateral sclerosis
Since the discovery of Cu/Zn superoxide dismutase (SOD1) gene mutation, in 1993, as the
first genetic abnormality in amyotrophic lateral sclerosis (ALS), over 50 genes have been …
first genetic abnormality in amyotrophic lateral sclerosis (ALS), over 50 genes have been …
[HTML][HTML] In vivo genome editing in animals using AAV-CRISPR system: applications to translational research of human disease
Adeno-associated virus (AAV) has shown promising therapeutic efficacy with a good safety
profile in a wide range of animal models and human clinical trials. With the advent of …
profile in a wide range of animal models and human clinical trials. With the advent of …
Dead Cas systems: types, principles, and applications
The gene editing tool CRISPR-Cas has become the foundation for developing numerous
molecular systems used in research and, increasingly, in medical practice. In particular, Cas …
molecular systems used in research and, increasingly, in medical practice. In particular, Cas …
[HTML][HTML] TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease
MP Fautsch, ED Wieben, KH Baratz… - Progress in retinal and …, 2021 - Elsevier
Fuchs endothelial corneal dystrophy (FECD) is a common cause for heritable visual loss in
the elderly. Since the first description of an association between FECD and common …
the elderly. Since the first description of an association between FECD and common …
Evolution of therapies for the corneal endothelium: past, present and future approaches
Corneal endothelial diseases are leading indications for corneal transplantations. With
significant advancement in medical science and surgical techniques, corneal transplant …
significant advancement in medical science and surgical techniques, corneal transplant …