Associated Papers
Modeling and correction of protein conformational disease in iPSC-derived neurons through personalized base editing.
Konishi CT et al.
Molecular Therapy. Nucleic Acids, 2025
An Inducible Neural Stem Progenitor Cell Model for Testing Therapeutic Interventions Against Neurodegeneration FENIB.
Giustini A et al.
Drug Development Research, 2025
Modeling and Correction of Protein Conformational Disease in iPSC-derived Neurons through Personalized Base Editing.
Konishi CT et al.
Biorxiv : the Preprint Server for Biology, 2024
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
Polymerogenic neuroserpin causes mitochondrial alterations and activates NFκB but not the UPR in a neuronal model of neurodegeneration FENIB.
D'Acunto E et al.
Cellular and Molecular Life Sciences : Cmls, 2022
Neuroserpin Inclusion Bodies in a FENIB Yeast Model.
Vapore V et al.
Microorganisms, 2021
G392E neuroserpin causing the dementia FENIB is secreted from cells but is not synaptotoxic.
Ingwersen T et al.
Scientific Reports, 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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Disruption of protein function by pathogenic mutations: common and uncommon mechanisms 1.
Taipale M
Biochemistry and Cell Biology = Biochimie Et Biologie Cellulaire, 2019
SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
Ranza E et al.
American Journal of Medical Genetics. Part A, 2017
Inflammation in Lafora Disease: Evolution with Disease Progression in Laforin and Malin Knock-out Mouse Models.
López-González I et al.
Molecular Neurobiology, 2017
Neuroserpin polymers cause oxidative stress in a neuronal model of the dementia FENIB.
Guadagno NA et al.
Neurobiology of Disease, 2017
A hydrophobic patch surrounding Trp154 in human neuroserpin controls the helix F dynamics with implications in inhibition and aggregation.
Ali MF et al.
Scientific Reports, 2017
Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis).
Roussel BD et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2016
[α1-Antitrypsin deficiency].
Hirai T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2016
Interactions between N-linked glycosylation and polymerisation of neuroserpin within the endoplasmic reticulum.
Moriconi C et al.
The Febs Journal, 2015
Lectin OS-9 delivers mutant neuroserpin to endoplasmic reticulum associated degradation in familial encephalopathy with neuroserpin inclusion bodies.
Schipanski A et al.
Neurobiology of Aging, 2014
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
A novel interaction between aging and ER overload in a protein conformational dementia.
Schipanski A et al.
Genetics, 2013
Unravelling the twists and turns of the serpinopathies.
Roussel BD et al.
The Febs Journal, 2011
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
The endoplasmic reticulum (ER)-associated degradation system regulates aggregation and degradation of mutant neuroserpin.
Ying Z et al.
The Journal of Biological Chemistry, 2011
Hepatic fibrosis and carcinogenesis in α1-antitrypsin deficiency: a prototype for chronic tissue damage in gain-of-function disorders.
Perlmutter DH et al.
Cold Spring Harbor Perspectives in Biology, 2011
Characterisation of serpin polymers in vitro and in vivo.
Belorgey D et al.
Methods (san Diego, Calif.), 2011
Serpin Inhibition Mechanism: A Delicate Balance between Native Metastable State and Polymerization.
Khan MS et al.
Journal of Amino Acids, 2011
Refolding and polymerization pathways of neuroserpin.
Takehara S et al.
Journal of Molecular Biology, 2010
Molecular bases of neuroserpin function and pathology.
Caccia S et al.
Biomolecular Concepts, 2010
pH-dependent stability of neuroserpin is mediated by histidines 119 and 138; implications for the control of beta-sheet A and polymerization.
Belorgey D et al.
Protein Science : a Publication of the Protein Society, 2010
Recent advances in our understanding of neurodegeneration.
Jellinger KA
Journal of Neural Transmission (vienna, Austria : 1996), 2009
Neuroserpin polymers activate NF-kappaB by a calcium signaling pathway that is independent of the unfolded protein response.
Davies MJ et al.
The Journal of Biological Chemistry, 2009
alpha1-Antitrypsin deficiency, chronic obstructive pulmonary disease and the serpinopathies.
Ekeowa UI et al.
Clinical Science (london, England : 1979), 2009
Human neuroserpin: structure and time-dependent inhibition.
Ricagno S et al.
Journal of Molecular Biology, 2009
The 2.1-A crystal structure of native neuroserpin reveals unique structural elements that contribute to conformational instability.
Takehara S et al.
Journal of Molecular Biology, 2009
Conformational pathology of the serpins: themes, variations, and therapeutic strategies.
Gooptu B et al.
Annual Review of Biochemistry, 2009
The intracellular accumulation of polymeric neuroserpin explains the severity of the dementia FENIB.
Miranda E et al.
Human Molecular Genetics, 2008
A structural basis for loop C-sheet polymerization in serpins.
Zhang Q et al.
Journal of Molecular Biology, 2008
The role of the amino acid residue at alpha1:189 in the binding of neuromuscular blocking agents to mouse and human muscle nicotinic acetylcholine receptors.
Purohit PG et al.
British Journal of Pharmacology, 2007
Accumulation of mutant neuroserpin precedes development of clinical symptoms in familial encephalopathy with neuroserpin inclusion bodies.
Galliciotti G et al.
The American Journal of Pathology, 2007
Mechanisms of serpin dysfunction in disease.
Kaiserman D et al.
Expert Reviews in Molecular Medicine, 2006
Parker B. Francis lectureship. Antitrypsin deficiency, the serpinopathies, and chronic obstructive pulmonary disease.
Lomas DA
Proceedings of the American Thoracic Society, 2006
Sugar and alcohol molecules provide a therapeutic strategy for the serpinopathies that cause dementia and cirrhosis.
Sharp LK et al.
The Febs Journal, 2006
Neuroserpin: a serpin to think about.
Miranda E et al.
Cellular and Molecular Life Sciences : Cmls, 2006
Latent S49P neuroserpin forms polymers in the dementia familial encephalopathy with neuroserpin inclusion bodies.
Onda M et al.
The Journal of Biological Chemistry, 2005
Neuroserpin Portland (Ser52Arg) is trapped as an inactive intermediate that rapidly forms polymers: implications for the epilepsy seen in the dementia FENIB.
Belorgey D et al.
European Journal of Biochemistry, 2004
Mutants of neuroserpin that cause dementia accumulate as polymers within the endoplasmic reticulum.
Miranda E et al.
The Journal of Biological Chemistry, 2004
Mutations in the shutter region of antithrombin result in formation of disulfide-linked dimers and severe venous thrombosis.
Corral J et al.
Journal of Thrombosis and Haemostasis : Jth, 2004
Alpha1-antitrypsin deficiency. 4: Molecular pathophysiology.
Lomas DA et al.
Thorax, 2004