Varaico: Literature-Extracted Genetic Variants

Gene:MAPT
Variant:p.G37R
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MAPT

NM_001377265.1:p.G37R

Associated Papers

cGAS and DDX41-STING mediated intrinsic immunity spreads intercellularly to promote neuroinflammation in SOD1 ALS model.

Tan HY et al.

Iscience, 2022

SOD1 mutations associated with amyotrophic lateral sclerosis analysis of variant severity.

Berdyński M et al.

Scientific Reports, 2022

An endogenous peptide marker differentiates SOD1 stability and facilitates pharmacodynamic monitoring in SOD1 amyotrophic lateral sclerosis.

Gertsman I et al.

Jci Insight, 2019

Atomic structures of corkscrew-forming segments of SOD1 reveal varied oligomer conformations.

Sangwan S et al.

Protein Science : a Publication of the Protein Society, 2018

Distinct conformers of transmissible misfolded SOD1 distinguish human SOD1-FALS from other forms of familial and sporadic ALS.

Ayers JI et al.

Acta Neuropathologica, 2016

Pathogenesis/genetics of frontotemporal dementia and how it relates to ALS.

Bennion Callister J et al.

Experimental Neurology, 2014

A structural modeling approach for the understanding of initiation and elongation of ALS-linked superoxide dismutase fibrils.

Falconi M et al.

Journal of Molecular Modeling, 2013

Clinical genetics of amyotrophic lateral sclerosis: what do we really know?

Andersen PM et al.

Nature Reviews. Neurology, 2011

Protein aggregation and protein instability govern familial amyotrophic lateral sclerosis patient survival.

Wang Q et al.

Plos Biology, 2008

ALS: a disease of motor neurons and their nonneuronal neighbors.

Boillée S et al.

Neuron, 2006

Mutational analysis of the Cu/Zn superoxide dismutase gene in a Catalan ALS population: should all sporadic ALS cases also be screened for SOD1?

Gamez J et al.

Journal of the Neurological Sciences, 2006

The genetics of motor neuron diseases.

Figlewicz DA et al.

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases, 2003

Progress in clinical neurosciences: the evidence for ALS as a multisystems disorder of limited phenotypic expression.

Strong MJ

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2001

Deregulation of Cdk5 in a mouse model of ALS: toxicity alleviated by perikaryal neurofilament inclusions.

Nguyen MD et al.

Neuron, 2001

Genetics of amyotrophic lateral sclerosis.

Siddique T et al.

Human Molecular Genetics, 1996

Perspective on SOD1 mediated toxicity in Amyotrophic Lateral Sclerosis.

Sangwan S et al.

Postepy Biochemii, 0

Superoxide dismutase and neurofilament transgenic models of amyotrophic lateral sclerosis.

Morrison BM et al.

The Journal of Experimental Zoology, 0

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