Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation

RJ Mead, N Shan, HJ Reiser, F Marshall… - Nature Reviews Drug …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a devastating disease caused by degeneration of
motor neurons. As with all major neurodegenerative disorders, development of disease …

Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

F Akçimen, ER Lopez, JE Landers, A Nath… - Nature Reviews …, 2023 - nature.com
Recent advances in sequencing technologies and collaborative efforts have led to
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 …

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 …

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 …

Genetic pain loss disorders

A Lischka, P Lassuthova, A Çakar, CJ Record… - Nature Reviews …, 2022 - nature.com
Genetic pain loss includes congenital insensitivity to pain (CIP), hereditary sensory
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 …

Deciphering lipid dysregulation in ALS: from mechanisms to translational medicine

I Agrawal, YS Lim, SY Ng, SC Ling - Translational Neurodegeneration, 2022 - Springer
Lipids, defined by low solubility in water and high solubility in nonpolar solvents, can be
classified into fatty acids, glycerolipids, glycerophospholipids, sphingolipids, and sterols …

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

S Srivastava, HM Shaked, K Gable, SD Gupta, X Pan… - Brain, 2023 - academic.oup.com
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 …

Sensory neuropathy in amyotrophic lateral sclerosis: a systematic review

A Bombaci, A Lupica, FE Pozzi, G Remoli, U Manera… - Journal of …, 2023 - Springer
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 …