Emerging therapies and challenges in spinal muscular atrophy
Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease with severity
ranging from progressive infantile paralysis and premature death (type I) to limited motor …
ranging from progressive infantile paralysis and premature death (type I) to limited motor …
[HTML][HTML] The role of survival motor neuron protein (SMN) in protein homeostasis
H Chaytow, YT Huang, TH Gillingwater… - Cellular and Molecular …, 2018 - Springer
Ever since loss of survival motor neuron (SMN) protein was identified as the direct cause of
the childhood inherited neurodegenerative disorder spinal muscular atrophy, significant …
the childhood inherited neurodegenerative disorder spinal muscular atrophy, significant …
[HTML][HTML] Single nucleus RNA-sequencing defines unexpected diversity of cholinergic neuron types in the adult mouse spinal cord
MR Alkaslasi, ZE Piccus, S Hareendran… - Nature …, 2021 - nature.com
In vertebrates, motor control relies on cholinergic neurons in the spinal cord that have been
extensively studied over the past hundred years, yet the full heterogeneity of these neurons …
extensively studied over the past hundred years, yet the full heterogeneity of these neurons …
[HTML][HTML] Muscle spindle function in healthy and diseased muscle
S Kröger, B Watkins - Skeletal Muscle, 2021 - Springer
Almost every muscle contains muscle spindles. These delicate sensory receptors inform the
central nervous system (CNS) about changes in the length of individual muscles and the …
central nervous system (CNS) about changes in the length of individual muscles and the …
Advances in therapy for spinal muscular atrophy: promises and challenges
Spinal muscular atrophy (SMA) is a devastating motor neuron disease that predominantly
affects children and represents the most common cause of hereditary infant mortality. The …
affects children and represents the most common cause of hereditary infant mortality. The …
Therapeutic strategies for spinal muscular atrophy: SMN and beyond
M Bowerman, CG Becker… - Disease models & …, 2017 - journals.biologists.com
Spinal muscular atrophy (SMA) is a devastating neuromuscular disorder characterized by
loss of motor neurons and muscle atrophy, generally presenting in childhood. SMA is …
loss of motor neurons and muscle atrophy, generally presenting in childhood. SMA is …
[HTML][HTML] In vivo translatome profiling in spinal muscular atrophy reveals a role for SMN protein in ribosome biology
Genetic alterations impacting ubiquitously expressed proteins involved in RNA metabolism
often result in neurodegenerative conditions, with increasing evidence suggesting that …
often result in neurodegenerative conditions, with increasing evidence suggesting that …
[HTML][HTML] The spinal and cerebral profile of adult spinal-muscular atrophy: a multimodal imaging study
G Querin, MM El Mendili, T Lenglet, A Behin… - NeuroImage: Clinical, 2019 - Elsevier
Spinal muscular atrophy (SMA) type III and IV are autosomal recessive, slowly progressive
lower motor neuron syndromes. Nevertheless, wider cerebral involvement has been …
lower motor neuron syndromes. Nevertheless, wider cerebral involvement has been …
[HTML][HTML] Bioenergetic status modulates motor neuron vulnerability and pathogenesis in a zebrafish model of spinal muscular atrophy
PJ Boyd, WY Tu, HK Shorrock, EJN Groen… - PLoS …, 2017 - journals.plos.org
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 …
muscular atrophy (SMA), resulting from low levels of ubiquitously-expressed survival motor …
Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy
EJN Groen, E Perenthaler, NL Courtney… - Human Molecular …, 2018 - academic.oup.com
Spinal muscular atrophy (SMA) is a progressive motor neuron disease caused by
deleterious variants in SMN1 that lead to a marked decrease in survival motor neuron (SMN) …
deleterious variants in SMN1 that lead to a marked decrease in survival motor neuron (SMN) …