The role of spastin in axon biology

AC Costa, MM Sousa - Frontiers in cell and developmental biology, 2022 - frontiersin.org
Neurons are highly polarized cells with elaborate shapes that allow them to perform their
function. In neurons, microtubule organization—length, density, and dynamics—are …

Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy

P Bagga, S Singh, G Ram, S Kapil, A Singh - Frontiers in Neurology, 2024 - frontiersin.org
Spinal muscular atrophy (SMA) is an uncommon disorder associated with genes
characterized by the gradual weakening and deterioration of muscles, often leading to …

The long noncoding RNA nHOTAIRM1 is necessary for differentiation and activity of iPSC-derived spinal motor neurons

P Tollis, E Vitiello, F Migliaccio, E D'Ambra… - Cell Death & …, 2023 - nature.com
The mammalian nervous system is made up of an extraordinary array of diverse cells that
form intricate functional connections. The programs underlying cell lineage specification …

TFG regulates secretory and endosomal sorting pathways in neurons to promote their activity and maintenance

JL Peotter, I Pustova, MM Lettman… - Proceedings of the …, 2022 - National Acad Sciences
Molecular pathways that intrinsically regulate neuronal maintenance are poorly understood,
but rare pathogenic mutations that underlie neurodegenerative disease can offer important …

Cell type–specific gene therapy confers protection against motor neuron disease caused by a TFG variant

MM Lettman, CA Mendina, E Burkard, JR Alvin… - Proceedings of the …, 2024 - pnas.org
Inherited forms of motor neuron disease (MND), including hereditary spastic paraplegias
(HSP), are associated with the death or dysfunction of nerve cells that control skeletal …

Examining ALS: reformed PCA and random forest for effective detection of ALS

A Alqahtani, S Alsubai, M Sha, AK Dutta - Journal of Big Data, 2024 - Springer
Abstract ALS (Amyotrophic Lateral Sclerosis) is a fatal neurodegenerative disease of the
human motor system. It is a group of progressive diseases that affects the nerve cells in the …

[HTML][HTML] Proteomic profiling of the brain from the wobbler mouse model of amyotrophic lateral sclerosis reveals elevated levels of the astrogliosis marker glial fibrillary …

S Murphy, T Schmitt-John, P Dowling… - European Journal of …, 2023 - ncbi.nlm.nih.gov
The wobbler mouse is a widely used model system of amyotrophic lateral sclerosis and
exhibits progressive neurodegeneration and neuroinflammation in association with skeletal …

[HTML][HTML] Update on Inherited Pediatric Motor Neuron Diseases: Clinical Features and Outcome

A Trabacca, C Ferrante, MC Oliva, I Fanizza, I Gallo… - Genes, 2024 - mdpi.com
Background: Inherited pediatric motor neuron diseases (MNDs) are a group of
neurodegenerative disorders characterized by the degeneration of motor neurons in the …

Computational screening of damaging nsSNPs in human SOD1 genes associated with amyotrophic lateral sclerosis identifies destabilising effects of G38R and G42D …

S Bhor, SH Tonny, S Dinesh, S Sharma - In Silico Pharmacology, 2024 - Springer
Amyotrophic lateral sclerosis (ALS), a complicated neurodegenerative disorder affected by
hereditary and environmental variables, is a condition. In this study, the genetic makeup of …

Identification of gene fusions associated with amyotrophic lateral sclerosis

Y Raghav, AA Dilliott, T Petrozziello, SE Kim… - Muscle & …, 2024 - Wiley Online Library
Abstract Introduction/Aims Genetics is an important risk factor for amyotrophic lateral
sclerosis (ALS), a neurodegenerative disease affecting motor neurons. Recent findings …