Spinal muscular atrophy—insights and challenges in the treatment era
Spinal muscular atrophy (SMA) is an autosomal recessive motor neuron disease caused by
deletion or mutation of SMN1. Four subtypes exist, characterized by different clinical …
deletion or mutation of SMN1. Four subtypes exist, characterized by different clinical …
Spinal muscular atrophy: in the challenge lies a solution
B Wirth - Trends in neurosciences, 2021 - cell.com
The path from gene discovery to therapy in spinal muscular atrophy (SMA) has been a
highly challenging endeavor, but also led to one of the most successful stories in …
highly challenging endeavor, but also led to one of the most successful stories in …
[HTML][HTML] Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease
DB Beck, MA Ferrada, KA Sikora… - … England Journal of …, 2020 - Mass Medical Soc
Background Adult-onset inflammatory syndromes often manifest with overlap** clinical
features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory …
features. Variants in ubiquitin-related genes, previously implicated in autoinflammatory …
Spinal muscular atrophy: from approved therapies to future therapeutic targets for personalized medicine
Spinal muscular atrophy (SMA) is a devastating childhood motor neuron disease that, in the
most severe cases and when left untreated, leads to death within the first two years of life …
most severe cases and when left untreated, leads to death within the first two years of life …
Twenty-five years of spinal muscular atrophy research: from phenotype to genotype to therapy, and what comes next
Twenty-five years ago, the underlying genetic cause for one of the most common and
devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified …
devastating inherited diseases in humans, spinal muscular atrophy (SMA), was identified …
Diverse role of survival motor neuron protein
Abstract The multifunctional Survival Motor Neuron (SMN) protein is required for the survival
of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism …
of all organisms of the animal kingdom. SMN impacts various aspects of RNA metabolism …
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 …
The role of survival motor neuron protein (SMN) in protein homeostasis
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 …
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 …
Neurocalcin delta suppression protects against spinal muscular atrophy in humans and across species by restoring impaired endocytosis
M Riessland, A Kaczmarek, S Schneider… - The American Journal of …, 2017 - cell.com
Homozygous SMN1 loss causes spinal muscular atrophy (SMA), the most common lethal
genetic childhood motor neuron disease. SMN1 encodes SMN, a ubiquitous housekee** …
genetic childhood motor neuron disease. SMN1 encodes SMN, a ubiquitous housekee** …