LAUSR

ATP is a cryptic binder of TDP-43 RRM domains to enhance stability and inhibit ALS/AD-associated fibrillation.

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1 Published in 2019 at "Biochemical and biophysical research communications"

DOI: 10.1016/j.bbrc.2019.11.088

Abstract: ATP is the universal energy currency for all cells but has cellular concentrations of 2-12 mM, much higher than required for its classic functions. RNA-recognition motif (RRM) constitutes one of the most abundant domains in eukaryotes… read more here.

Keywords: tdp rrm; fibrillation; als associated; rrm ... See more keywords

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

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1 Published in 2018 at "Neurobiology of Aging"

DOI: 10.1016/j.neurobiolaging.2018.06.015

Abstract: Mutations in TANK binding kinase 1 (TBK1) have been linked to amyotrophic lateral sclerosis. Some TBK1 variants are nonsense and are predicted to cause disease through haploinsufficiency; however, many other mutations are missense with unknown… read more here.

Keywords: als associated; kinase; tbk1 mutations; tbk1 ... See more keywords

Cells Overexpressing ALS-Associated SOD1 Variants Are Differentially Susceptible to CuATSM-Associated Toxicity.

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1 Published in 2022 at "ACS chemical neuroscience"

DOI: 10.1021/acschemneuro.2c00253

Abstract: CuATSM has repeatedly demonstrated to be therapeutically effective in SOD1 mouse models of amyotrophic lateral sclerosis (ALS), leading to current clinical trials. CuATSM acts to stabilize ALS-associated mutant SOD1 protein by supplying copper. However, in… read more here.

Keywords: copper; cuatsm associated; als associated; sod1 ... See more keywords

Overexpression of an ALS-associated FUS mutation in C. elegans disrupts NMJ morphology and leads to defective neuromuscular transmission

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0 Published in 2020 at "Biology Open"

DOI: 10.1242/bio.055129

Abstract: ABSTRACT The amyotrophic lateral sclerosis (ALS) neurodegenerative disorder has been associated with multiple genetic lesions, including mutations in the gene for fused in sarcoma (FUS), a nuclear-localized RNA/DNA-binding protein. Neuronal expression of the pathological form… read more here.

Keywords: als associated; transmission; overexpression als; mutation ... See more keywords

Electrochemical Impedance Immunoassay for ALS-Associated Neurofilament Protein: Matrix Effect on the Immunoplatform

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1 Published in 2023 at "Biosensors"

DOI: 10.3390/bios13020247

Abstract: Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder, which has complex diagnostic steps. Electrochemical immunoassays may make the diagnosis simpler and faster. Here, we present the detection of ALS-associated neurofilament light chain (Nf-L) protein through… read more here.

Keywords: impedance immunoassay; electrochemical impedance; associated neurofilament; als associated ... See more keywords

Functional Characterization of a Familial ALS-Associated Missense TBK1 (p-Arg573Gly) Mutation in Patient-Derived Lymphoblasts

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1 Published in 2023 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms24032847

Abstract: The goal of this work was to elucidate the pathogenic mechanism of an ALS-associated missense mutation, p.Arg573Gly (R573G), in the TBK1 gene. In particular, we seek to analyze the influence of this variant on the… read more here.

Keywords: functional characterization; tbk1; familial als; characterization familial ... See more keywords

A novel ALS-associated variant in UBQLN4 regulates motor axon morphogenesis

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0 Published in 2017 at "eLife"

DOI: 10.7554/elife.25453

Abstract: The etiological underpinnings of amyotrophic lateral sclerosis (ALS) are complex and incompletely understood, although contributions to pathogenesis by regulators of proteolytic pathways have become increasingly apparent. Here, we present a novel variant in UBQLN4 that… read more here.

Keywords: als associated; variant ubqln4; novel als; motor axon ... See more keywords