49 Result(s)
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Jeffrey D. Rothstein
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Open AccessDisease related changes in ATAC-seq of iPSC-derived motor neuron lines from ALS patients and controls
Amyotrophic Lateral Sclerosis (ALS), like many other neurodegenerative diseases, is highly heritable, but with only a small fraction of cases explained by monogenic disease alleles. To better understand sporad...
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Monocarboxylate transporters facilitate succinate uptake into brown adipocytes
Uptake of circulating succinate by brown adipose tissue (BAT) and beige fat elevates whole-body energy expenditure, counteracts obesity and antagonizes systemic tissue inflammation in mice. The plasma membrane...
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G2C4 targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons
The G4C2 repeat expansion in the C9orf72 gene is the most common genetic cause of Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Many studies suggest that dipeptide repeat proteins produced from this ...
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The Evolving Landscape of Motor Neuron Disease Therapeutics
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Nuclear Pore Dysfunction in Neurodegeneration
The nuclear pore complex (NPC) is a large multimeric structure that is interspersed throughout the membrane of the nucleus and consists of at least 33 protein components. Individual components cooperate within...
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Nuclear pore complexes — a doorway to neural injury in neurodegeneration
The genetic underpinnings and end-stage pathological hallmarks of neurodegenerative diseases are increasingly well defined, but the cellular pathophysiology of disease initiation and propagation remains poorly...
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Open AccessAnswer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines
Answer ALS is a biological and clinical resource of patient-derived, induced pluripotent stem (iPS) cell lines, multi-omic data derived from iPS neurons and longitudinal clinical and smartphone data from over ...
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Open AccessNuclear export and translation of circular repeat-containing intronic RNA in C9ORF72-ALS/FTD
C9ORF72 hexanucleotide GGGGCC repeat expansion is the most common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Repeat-containing RNA mediates toxicity through nuclear gr...
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Open AccessThe ESCRT-III protein VPS4, but not CHMP4B or CHMP2B, is pathologically increased in familial and sporadic ALS neuronal nuclei
Nuclear pore complex injury has recently emerged as an early and significant contributor to familial and sporadic ALS disease pathogenesis. However, the molecular events leading to this pathological phenomenon...
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Open AccessNuclear lamina invaginations are not a pathological feature of C9orf72 ALS/FTD
The most common genetic cause of familial and sporadic amyotrophic lateral sclerosis (ALS) is a GGGGCC hexanucleotide repeat expansion (HRE) in the C9orf72 gene. While direct molecular hallmarks of the C9orf72...
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Reactive astrocyte nomenclature, definitions, and future directions
Reactive astrocytes are astrocytes undergoing morphological, molecular, and functional remodeling in response to injury, disease, or infection of the CNS. Although this remodeling was first described over a ce...
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Metabolic support of tumour-infiltrating regulatory T cells by lactic acid
Regulatory T (Treg) cells, although vital for immune homeostasis, also represent a major barrier to anti-cancer immunity, as the tumour microenvironment (TME) promotes the recruitment, differentiation and activit...
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Astrocyte Diversity: Current Insights and Future Directions
Astrocytes make up 20–40% of glial cells within the central nervous system (CNS) and provide several crucial functions, ranging from metabolic and structural support to regulation of synaptogenesis and synapti...
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Open AccessThe role of mutations associated with familial neurodegenerative disorders on blood–brain barrier function in an iPSC model
Blood–brain barrier dysfunction is associated with many late-stage neurodegenerative diseases. An emerging question is whether the mutations associated with neurodegenerative diseases can independently lead to...
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Molecularly defined cortical astroglia subpopulation modulates neurons via secretion of Norrin
Despite expanding knowledge regarding the role of astroglia in regulating neuronal function, little is known about regional or functional subgroups of brain astroglia and how they may interact with neurons. We...
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Open AccessAberrant deposition of stress granule-resident proteins linked to C9orf72-associated TDP-43 proteinopathy
A G4C2 hexanucleotide repeat expansion in the noncoding region of C9orf72 is the major genetic cause of frontotemporal dementia and amyotrophic lateral sclerosis (c9FTD/ALS). Putative disease mechanisms underlyin...
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Open Access3D Printer Generated Tissue iMolds for Cleared Tissue Using Single- and Multi-Photon Microscopy for Deep Tissue Evaluation
Pathological analyses and methodology has recently undergone a dramatic revolution. With the creation of tissue clearing methods such as CLARITY and CUBIC, groups can now achieve complete transparency in tissu...
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Two–for–one on potential therapies
Molecules that inhibit the synthesis of the ataxin 2 protein can ameliorate the effects of two neurodegenerative diseases in mouse models, raising hopes for the success of this approach in clinical trials. See Le...
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Open AccessThe astrocytic transporter SLC7A10 (Asc-1) mediates glycinergic inhibition of spinal cord motor neurons
SLC7A10 (Asc-1) is a sodium-independent amino acid transporter known to facilitate transport of a number of amino acids including glycine, L-serine, L-alanine, and L-cysteine, as well as their D-enantiomers. I...
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The expanding biology of the C9orf72 nucleotide repeat expansion in neurodegenerative disease
Since its discovery as the most common genetic abnormality in familial amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), researchers have ...
