Advancements and challenges in amyotrophic lateral sclerosis

D Bradford, KE Rodgers - Frontiers in Neuroscience, 2024 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) continues to pose a significant challenge due to the
disease complexity and heterogeneous manifestations. Despite recent drug approvals, there …

Updates on Disease Mechanisms and Therapeutics for Amyotrophic Lateral Sclerosis

L Nguyen - Cells, 2024 - mdpi.com
Amyotrophic lateral sclerosis (ALS), or Lou Gehrig's disease, is a motor neuron disease. In
ALS, upper and lower motor neurons in the brain and spinal cord progressively degenerate …

Genetics screening in an Italian cohort of patients with Amyotrophic Lateral Sclerosis: the importance of early testing and its implication

L Libonati, C Cambieri, D Colavito, F Moret… - Journal of …, 2024 - Springer
Abstract Introduction Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease
with an elusive etiology. While environmental factors have been considered, familial ALS …

Unveiling local and global conformational changes and allosteric communications in SOD1 systems using molecular dynamics simulation and network analyses

S Basith, B Manavalan, G Lee - Computers in Biology and Medicine, 2024 - Elsevier
Background Amyotrophic lateral sclerosis (ALS) is a serious neurodegenerative disorder
affecting nerve cells in the brain and spinal cord that is caused by mutations in the …

The familial amyotrophic lateral sclerosis-associated A4V SOD1 mutant is not able to regulate aerobic glycolysis

L de Holanda Paranhos, RSS Magalhães… - … et Biophysica Acta (BBA …, 2024 - Elsevier
Under certain stress conditions, astrocytes operate in aerobic glycolysis, a process
controlled by pyruvate dehydrogenase (PDH) inhibition through its E1 α subunit (Pda1) …

Amyotrophic Lateral Sclerosis with SOD1 mutation presenting with progressive cerebellar ataxia

M Sequeira, F Godinho, J Lourenço - The Cerebellum, 2023 - Springer
Amyotrophic lateral sclerosis is a fatal neurodegenerative disorder that affects upper and
lower motor neurons. SOD1 mutations are the second most commonly found in familial and …

Multifaceted superoxide dismutase 1 expression in amyotrophic lateral sclerosis patients: a rare occurrence?

I Martinelli, J Mandrioli, A Ghezzi, E Zucchi… - Neural Regeneration …, 2025 - journals.lww.com
Amyotrophic lateral sclerosis (ALS) is a neuromuscular condition resulting from the
progressive degeneration of motor neurons in the cortex, brainstem, and spinal cord. While …

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 …

Сочетание спиноцеребеллярной атаксии и болезни двигательного нейрона, ассоциированное с мутацией в гене SOD1

ЕП Нужный, ИВ Минаев… - Медицинская …, 2023 - medgen-journal.ru
Аннотация Описан клинический случай пациентки с редким фенотипом в виде
прогрессирующей мозжечковой атаксии в сочетании с признаками поражения верхнего …