Molecular mechanisms of amyotrophic lateral sclerosis as broad therapeutic targets for gene therapy applications utilizing adeno‐associated viral vectors
Despite the devastating clinical outcome of the neurodegenerative disease, amyotrophic
lateral sclerosis (ALS), its etiology remains mysterious. Approximately 90% of ALS is …
lateral sclerosis (ALS), its etiology remains mysterious. Approximately 90% of ALS is …
TDP-43 proteinopathy and tauopathy: do they have pathomechanistic links?
Y Riku, M Yoshida, Y Iwasaki, G Sobue… - International Journal of …, 2022 - mdpi.com
Transactivation response DNA binding protein 43 kDa (TDP-43) and tau are major
pathological proteins of neurodegenerative disorders, of which neuronal and glial …
pathological proteins of neurodegenerative disorders, of which neuronal and glial …
Nucleocytoplasmic mRNA redistribution accompanies RNA binding protein mislocalization in ALS motor neurons and is restored by VCP ATPase inhibition
Amyotrophic lateral sclerosis (ALS) is characterized by nucleocytoplasmic mislocalization of
the RNA-binding protein (RBP) TDP-43. However, emerging evidence suggests more …
the RNA-binding protein (RBP) TDP-43. However, emerging evidence suggests more …
Disruption of nuclear speckle integrity dysregulates RNA splicing in C9ORF72-FTD/ALS
Expansion of an intronic (GGGGCC) n repeat within the C9ORF72 gene is the most common
genetic cause of both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …
genetic cause of both frontotemporal dementia (FTD) and amyotrophic lateral sclerosis …
Physiological intron retaining transcripts in the cytoplasm abound during human motor neurogenesis
Intron retention (IR) is now recognized as a dominant splicing event during motor neuron
(MN) development; however, the role and regulation of intron-retaining transcripts (IRTs) …
(MN) development; however, the role and regulation of intron-retaining transcripts (IRTs) …
HNRNPK alleviates RNA toxicity by counteracting DNA damage in C9orf72 ALS
A 'GGGGCC'repeat expansion in the first intron of the C9orf72 gene is the most common
genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) …
genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) …
Motor neuron TDP-43 proteinopathy in progressive supranuclear palsy and corticobasal degeneration
Y Riku, Y Iwasaki, S Ishigaki, A Akagi, M Hasegawa… - Brain, 2022 - academic.oup.com
TDP-43 is mislocalized from the nucleus and aggregates within the cytoplasm of affected
neurons in cases of amyotrophic lateral sclerosis. TDP-43 pathology has also been found in …
neurons in cases of amyotrophic lateral sclerosis. TDP-43 pathology has also been found in …
High-altitude stress orchestrates mRNA expression and alternative splicing of ovarian follicle development genes in tibetan sheep
W Li, W Zeng, X Jin, H Xu, X Fang, Z Ma, G Cao, R Li… - Animals, 2022 - mdpi.com
Simple Summary To achieve optimal growth performance and improved fertility in animals
living on high plateaus, it is important to understand how high-altitude stress reduces fertility …
living on high plateaus, it is important to understand how high-altitude stress reduces fertility …
Elucidating the pathobiology of Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS) with its expanded RNA structure formation and …
Numerous neurological disorders are linked to sequences rich in guanine repeats found in
introns, exons, and regulatory regions of genes. These sequences have been observed to …
introns, exons, and regulatory regions of genes. These sequences have been observed to …
Prematurely terminated intron-retaining mRNAs invade axons in SFPQ null-driven neurodegeneration and are a hallmark of ALS
Loss of SFPQ is a hallmark of motor degeneration in ALS and prevents maturation of motor
neurons when occurring during embryogenesis. Here, we show that in zebrafish, developing …
neurons when occurring during embryogenesis. Here, we show that in zebrafish, developing …