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 …
function. In neurons, microtubule organization—length, density, and dynamics—are …
Diving into progress: a review on current therapeutic advancements in spinal muscular atrophy
Spinal muscular atrophy (SMA) is an uncommon disorder associated with genes
characterized by the gradual weakening and deterioration of muscles, often leading to …
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 …
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 …
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 …
(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
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 …
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 …
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 …
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 …
Amyotrophic lateral sclerosis (ALS), a complicated neurodegenerative disorder affected by
hereditary and environmental variables, is a condition. In this study, the genetic makeup of …
hereditary and environmental variables, is a condition. In this study, the genetic makeup of …
Identification of gene fusions associated with amyotrophic lateral sclerosis
Abstract Introduction/Aims Genetics is an important risk factor for amyotrophic lateral
sclerosis (ALS), a neurodegenerative disease affecting motor neurons. Recent findings …
sclerosis (ALS), a neurodegenerative disease affecting motor neurons. Recent findings …