Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation
Amyotrophic lateral sclerosis (ALS) is a devastating disease caused by degeneration of
motor neurons. As with all major neurodegenerative disorders, development of disease …
motor neurons. As with all major neurodegenerative disorders, development of disease …
Amyotrophic lateral sclerosis: translating genetic discoveries into therapies
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy
N Suzuki, A Nishiyama, H Warita, M Aoki - Journal of human genetics, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …
Update on genetics of amyotrophic lateral sclerosis
D Brenner, A Freischmidt - Current Opinion in Neurology, 2022 - journals.lww.com
The genetic and molecular basis of ALS is increasingly examined on single-cell resolution.
In the past 2 years, the understanding of the downstream mechanisms of several ALS genes …
In the past 2 years, the understanding of the downstream mechanisms of several ALS genes …
SPTLC1 variants associated with ALS produce distinct sphingolipid signatures through impaired interaction with ORMDL proteins
MA Lone, MJ Aaltonen, A Zidell… - The Journal of …, 2022 - Am Soc Clin Investig
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease that affects
motor neurons. Mutations in the SPTLC1 subunit of serine palmitoyltransferase (SPT), which …
motor neurons. Mutations in the SPTLC1 subunit of serine palmitoyltransferase (SPT), which …
Genetic pain loss disorders
Genetic pain loss includes congenital insensitivity to pain (CIP), hereditary sensory
neuropathies and, if autonomic nerves are involved, hereditary sensory and autonomic …
neuropathies and, if autonomic nerves are involved, hereditary sensory and autonomic …
Recent progress of the genetics of amyotrophic lateral sclerosis and challenges of gene therapy
H Wang, LP Guan, M Deng - Frontiers in neuroscience, 2023 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by the
degeneration of motor neurons in the brain and spinal cord. The causes of ALS are not fully …
degeneration of motor neurons in the brain and spinal cord. The causes of ALS are not fully …
Deciphering lipid dysregulation in ALS: from mechanisms to translational medicine
Lipids, defined by low solubility in water and high solubility in nonpolar solvents, can be
classified into fatty acids, glycerolipids, glycerophospholipids, sphingolipids, and sterols …
classified into fatty acids, glycerolipids, glycerophospholipids, sphingolipids, and sterols …
SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia
Sphingolipids are a diverse family of lipids with critical structural and signalling functions in
the mammalian nervous system, where they are abundant in myelin membranes. Serine …
the mammalian nervous system, where they are abundant in myelin membranes. Serine …
Sensory neuropathy in amyotrophic lateral sclerosis: a systematic review
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by
the degeneration of both upper and lower motoneurons, leading to motor and non-motor …
the degeneration of both upper and lower motoneurons, leading to motor and non-motor …