The p75 neurotrophin receptor (p75(NTR); also known as NGFR) can mediate neuronal apoptosis in disease or following trauma, and facilitate survival through interactions with Trk receptors. Here we tested the ability of a p75(NTR)-derived trophic cell-permeable peptide, c29, to inhibit p75(NTR)-mediated motor neuron death. Acute c29 application to axotomized motor neuron axons decreased cell dea...

Motor neuron diseases are neurological disorders characterized primarily by the degeneration of spinal motor neurons, skeletal muscle atrophy, and debilitating and often fatal motor dysfunction. Spinal muscular atrophy (SMA) is an autosomal-recessive motor neuron disease of high incidence and severity and the most common genetic cause of infant mortality. SMA is caused by homozygous mutations i...

Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by low levels of full-length survival motor neuron (SMN) protein due to the loss 1 (SMN1) gene and inefficient splicing 2 (SMN2) gene, which mostly affects alpha neurons lower spinal cord. Despite U.S. Food Drug Administration (FDA) approved SMN-dependent therapies including Nusinersen, Zolgensma® Evrysdi™, SMA still devastatin...

Degeneration and loss of lower motor neurons is the major pathological hallmark of spinal muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor neuron (SMN) protein. One remarkable, yet unresolved, feature of SMA is that not all motor neurons are equally affected, with some populations displaying a robust resistance to the disease. Here, we demonstrate that ...

Background: The failure of regeneration after spinal cord injury (SCI) has been attributed to axonal demyelination and neuronal death. Cellular replacement and white matter regeneration are both necessary for SCI repair. In this study, we evaluated the co-transplantation of olfactory ensheathing cells (OEC) and embryonic stem (ES) cell-derived motor neurons (ESMN) on contused SCI. Methods: OEC...

Proximal spinal muscular atrophy is an autosomal recessive human disease of spinal motor neurons leading to muscular weakness with onset predominantly in infancy and childhood. With an estimated heterozygote frequency of 1/40 it is the most common monogenic disorder lethal to infants; milder forms represent the second most common pediatric neuromuscular disorder. Two candidate genes-survival mo...

Neurodegenerative disorders such as Parkinson’s disease, motor neuron disease and Alzheimer’s disease is characterized by loss of specific cells within certain regions of the brain. One of the most compelling questions is to determine why specific cell populations are vulnerable to neurodegeneration. We addressed this question by studying global gene expression changes using an animal model of ...

Neurodegenerative disorders such as Parkinson’s disease, motor neuron disease and Alzheimer’s disease is characterized by loss of specific cells within certain regions of the brain. One of the most compelling questions is to determine why specific cell populations are vulnerable to neurodegeneration. We addressed this question by studying global gene expression changes using an animal model of ...

Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease with a high incidence and is the most common genetic cause of infant mortality. SMA is primarily characterized by degeneration of the spinal motor neurons that leads to skeletal muscle atrophy followed by symmetric limb paralysis, respiratory failure, and death. In humans, mutation of the Survival Motor Neuron 1 (SMN1)...

Spinal muscular atrophy (SMA) adalah kelainan autosomal resesif langka akibat mutasi atau hilangnya gen survival motor neuron 1 (SMN1) pada kromosom 5q13. Insiden global SMA diperkirakan 1:11.000 kelahiran hidup. Manifestasi klinis berupa kelemahan otot progresif dan penurunan tonus yang berhubungan dengan destruksi unit motorik alfa lower neuron. Gejala prognosis lebih berat jika usia onset ge...