News Related to: ALS Association and Target ALS to Expand Tissue Core for ALS Research
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Dysregulation of Mdm2 and Mdm4 alternative splicing underlies motor neuron death in spinal muscular atrophy
Ubiquitous deficiency in the survival motor neuron (SMN) protein causes death of motor neurons—a hallmark of the neurodegenerative disease spinal muscular atrophy (SMA)—through poorly understood...
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New Insights on How the Reprogramming Factor LIN28 Regulates its Targets
A new study led by Chaolin Zhang, PhD , assistant professor of systems biology , published today as the cover story of Molecular Cell , sheds light on a critical RNA-binding protein that is...
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Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein
Haploinsufficiency of the SLC2A1 gene and paucity of its translated product, the glucose
transporter-1 (Glut1) protein, disrupt brain function and cause the neurodevelopmental
disorder... -
FUS affects circular RNA expression in murine embryonic stem cell-derived motor neurons
The RNA-binding protein FUS participates in several RNA biosynthetic processes and has been linked to the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. Here we...
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Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice
Spinal muscular atrophy (SMA) is a common and often fatal neuromuscular disorder caused by low levels of the Survival Motor Neuron (SMN) protein. Amongst the earliest detectable consequences of...
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Reduced sensory synaptic excitation impairs motor neuron function via Kv2.1 in spinal muscular atrophy
Behavioral deficits in neurodegenerative diseases are often attributed to the selective dysfunction of vulnerable neurons via cell-autonomous mechanisms. Although vulnerable neurons are embedded...
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A pathogenic S250F missense mutation results in a mouse model of mild aromatic l-amino acid decarboxylase (AADC) deficiency
Homozygous mutations in the aromatic l-amino acid decarboxylase (AADC) gene result in a severe depletion of its namesake protein, triggering a debilitating and often fatal form of infantile...
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Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy
The hallmark of spinal muscular atrophy (SMA), an inherited disease caused by ubiquitous deficiency in the SMN protein, is the selective degeneration of subsets of spinal motor neurons. Here, we...
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Augmenting the SMN Protein to TReat Infantile Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is a common and oft-fatal pediatric neuromuscular disorder caused by insufficient
SMN protein. Now, two clinical trials (Mendell et al., 2017; Finkel et al.,... -
The Ubiquitination of PINK1 Is Restricted to Its Mature 52-kDa Form
Along with Parkin, PINK1 plays a critical role in maintaining mitochondrial quality control. Although PINK1 is expressed constitutively, its level is kept low in healthy mitochondria by...
