Varaico: Literature-Extracted Genetic Variants

Gene:SERPINI1
Variant:p.L47P
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SERPINI1

NM_001122752.2:p.L47P

Associated Papers

Strand 1A variant in neuroserpin shows increased aggregation and no loss of inhibition: implication in ameliorating polymerization to retain activity.

Ansari S et al.

Bioscience Reports, 2022

Neuroserpin: structure, function, physiology and pathology.

D'Acunto E et al.

Cellular and Molecular Life Sciences : Cmls, 2021

Neuroserpin Inclusion Bodies in a FENIB Yeast Model.

Vapore V et al.

Microorganisms, 2021

Increased anxiety was found in serpini1 knockout zebrafish larval.

Han S et al.

Biochemical and Biophysical Research Communications, 2021

Embelin as Lead Compound for New Neuroserpin Polymerization Inhibitors.

Visentin C et al.

Life (basel, Switzerland), 2020

Glycosylation Tunes Neuroserpin Physiological and Pathological Properties.

Visentin C et al.

International Journal of Molecular Sciences, 2020

A Japanese family with mutation in the proteinase inhibitor 12 L47P gene: A case report.

Amano-Takeshige H et al.

Journal of the Neurological Sciences, 2018

SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.

Ranza E et al.

American Journal of Medical Genetics. Part A, 2017

Neuroserpin polymers cause oxidative stress in a neuronal model of the dementia FENIB.

Guadagno NA et al.

Neurobiology of Disease, 2017

Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis).

Roussel BD et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2016

Interactions between N-linked glycosylation and polymerisation of neuroserpin within the endoplasmic reticulum.

Moriconi C et al.

The Febs Journal, 2015

Sterol metabolism regulates neuroserpin polymer degradation in the absence of the unfolded protein response in the dementia FENIB.

Roussel BD et al.

Human Molecular Genetics, 2013

Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 gene.

Hagen MC et al.

Brain Pathology (zurich, Switzerland), 2011

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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."