Varaico: Literature-Extracted Genetic Variants

Gene:SARM1
Variant:p.E642A
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SARM1

NM_015077.4:p.E642A

Associated Papers

Hypoxia-inducible factor 1 protects neurons from Sarm1-mediated neurodegeneration.

Meraner P et al.

Cell Reports, 2026

Decoding Missense Variants by Incorporating Phase Separation via Machine Learning.

Feng M et al.

Nature Communications, 2024

39333476 (PubMed )
Supplement: 41467_2024_52580_MOESM4_ESM.xlsx › impact_ps_mutations

SARM1 regulates pro-inflammatory cytokine expression in human monocytes by NADase-dependent and -independent mechanisms.

Sugisawa R et al.

Iscience, 2024

SARM1 participates in axonal degeneration and mitochondrial dysfunction in prion disease.

Lai MY et al.

Neural Regeneration Research, 2022

Natural variants of human SARM1 cause both intrinsic and dominant loss-of-function influencing axon survival.

Ademi M et al.

Scientific Reports, 2022

Divergent signaling requirements of dSARM in injury-induced degeneration and developmental glial phagocytosis.

Herrmann KA et al.

Plos Genetics, 2022

Structural basis of SARM1 activation, substrate recognition, and inhibition by small molecules.

Shi Y et al.

Molecular Cell, 2022

Constitutively active SARM1 variants that induce neuropathy are enriched in ALS patients.

Bloom AJ et al.

Molecular Neurodegeneration, 2022

Neurotoxin-mediated potent activation of the axon degeneration regulator SARM1.

Loreto A et al.

Elife, 2021

Pharmacological SARM1 inhibition protects axon structure and function in paclitaxel-induced peripheral neuropathy.

Bosanac T et al.

Brain : a Journal of Neurology, 2021

Enrichment of SARM1 alleles encoding variants with constitutively hyperactive NADase in patients with ALS and other motor nerve disorders.

Gilley J et al.

Elife, 2021

A phase transition enhances the catalytic activity of SARM1, an NAD+ glycohydrolase involved in neurodegeneration.

Loring HS et al.

Elife, 2021

34184985 (PubMed )
Supplement: elife-66694-transrepform.pdf

The NAD+-mediated self-inhibition mechanism of pro-neurodegenerative SARM1.

Jiang Y et al.

Nature, 2020

Structural basis for SARM1 inhibition and activation under energetic stress.

Sporny M et al.

Elife, 2020

TIR Domain Proteins Are an Ancient Family of NAD+-Consuming Enzymes.

Essuman K et al.

Current Biology : Cb, 2018

The SARM1 Toll/Interleukin-1 Receptor Domain Possesses Intrinsic NAD+ Cleavage Activity that Promotes Pathological Axonal Degeneration.

Essuman K et al.

Neuron, 2017

Cataract-related mutations in EphA2: a survey of literature data and the relevance of the receptor Sam domain.

Vincenzi M et al.

Expert Opinion on Therapeutic Targets, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."