Mechanism of neuroprotection against experimental spinal cord injury by riluzole or methylprednisolone
C Sámano, A Nistri - Neurochemical research, 2019 - Springer
Any spinal cord injury carries the potential for persistent disability affecting motor, sensory
and autonomic functions. To prevent this outcome, it is highly desirable to block a chain of …
and autonomic functions. To prevent this outcome, it is highly desirable to block a chain of …
Lack of GDAP1 induces neuronal calcium and mitochondrial defects in a knockout mouse model of charcot-marie-tooth neuropathy
M Barneo-Muñoz, P Juárez, A Civera-Tregón… - PLoS …, 2015 - journals.plos.org
Mutations in GDAP1, which encodes protein located in the mitochondrial outer membrane,
cause axonal recessive (AR-CMT2), axonal dominant (CMT2K) and demyelinating …
cause axonal recessive (AR-CMT2), axonal dominant (CMT2K) and demyelinating …
Autophagy in spinal muscular atrophy: from pathogenic mechanisms to therapeutic approaches
S Rashid, M Dimitriadi - Frontiers in Cellular Neuroscience, 2024 - frontiersin.org
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder caused by the
depletion of the ubiquitously expressed survival motor neuron (SMN) protein. While the …
depletion of the ubiquitously expressed survival motor neuron (SMN) protein. While the …
Spinal Muscular Atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons
A Sansa, I Hidalgo, MP Miralles, S de la Fuente… - Acta Neuropathologica …, 2021 - Springer
Spinal muscular atrophy (SMA) is a neuromuscular genetic disease caused by reduced
survival motor neuron (SMN) protein. SMN is ubiquitous and deficient levels cause spinal …
survival motor neuron (SMN) protein. SMN is ubiquitous and deficient levels cause spinal …
ERK MAPK signaling pathway inhibition as a potential target to prevent autophagy alterations in spinal muscular atrophy motoneurons
A Sansa, MP Miralles, M Beltran, F Celma-Nos… - Cell Death …, 2023 - nature.com
Abstract Spinal Muscular Atrophy (SMA) is a severe genetic neuromuscular disorder that
occurs in childhood and is caused by misexpression of the survival motor neuron (SMN) …
occurs in childhood and is caused by misexpression of the survival motor neuron (SMN) …
Mitigating aberrant Cdk5 activation alleviates mitochondrial defects and motor neuron disease symptoms in spinal muscular atrophy
N Miller, Z Xu, KA Quinlan, A Ji… - Proceedings of the …, 2023 - National Acad Sciences
Spinal muscular atrophy (SMA), the top genetic cause of infant mortality, is characterized by
motor neuron degeneration. Mechanisms underlying SMA pathogenesis remain largely …
motor neuron degeneration. Mechanisms underlying SMA pathogenesis remain largely …
Junctophilin-1 is a modifier gene of GDAP1-related Charcot–Marie–Tooth disease
D Pla-Martín, E Calpena, V Lupo… - Human molecular …, 2015 - academic.oup.com
Mutations in the GDAP1 gene cause different forms of Charcot–Marie–Tooth (CMT) disease,
and the primary clinical expression of this disease is markedly variable in the dominant …
and the primary clinical expression of this disease is markedly variable in the dominant …
Selective mitochondrial Ca2+ uptake deficit in disease endstage vulnerable motoneurons of the SOD1G93A mouse model of amyotrophic lateral sclerosis
A Fuchs, S Kutterer, T Mühling, J Duda… - The Journal of …, 2013 - Wiley Online Library
Key points• So far, increased excitability and calcium handling problems have been
discussed as causes for motoneuron death in amyotrophic lateral sclerosis (ALS) mainly on …
discussed as causes for motoneuron death in amyotrophic lateral sclerosis (ALS) mainly on …
Calpain system is altered in survival motor neuron-reduced cells from in vitro and in vivo spinal muscular atrophy models
S de la Fuente, A Sansa, I Hidalgo, N Vivancos… - Cell death & …, 2020 - nature.com
Spinal muscular atrophy (SMA) is a severe neuromuscular disorder caused by loss of the
survival motor neuron 1 (SMN1) gene. SMA is characterized by the degeneration of spinal …
survival motor neuron 1 (SMN1) gene. SMA is characterized by the degeneration of spinal …
AAV‐mediated expression of wild‐type and ALS‐linked mutant VAPB selectively triggers death of motoneurons through a Ca2+‐dependent ER‐associated pathway
K Langou, A Moumen, C Pellegrino… - Journal of …, 2010 - Wiley Online Library
J. Neurochem.(2010) 114, 795–809. Abstract A dominant mutation in the gene coding for the
vesicle‐associated membrane protein‐associated protein B (VAPB) was associated with …
vesicle‐associated membrane protein‐associated protein B (VAPB) was associated with …