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
Acceptors stability modulates the efficiency of post-translational protein N-glycosylation.
Couto PM et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2024
Familial encephalopathy with neuroserpin inclusion bodies (FENIB) presenting as catatonia: A case report in a psychiatry setting.
Sahoo S et al.
Indian Journal of Psychiatry, 2024
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
Frontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report.
Handa H et al.
Bmc Neurology, 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
Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review.
Yang X et al.
Seizure, 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
Z-α1-antitrypsin polymers impose molecular filtration in the endoplasmic reticulum after undergoing phase transition to a solid state.
Chambers JE et al.
Science Advances, 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
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
The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.
Orsini A et al.
Seizure, 2019
SP140 regulates the expression of immune-related genes associated with multiple sclerosis and other autoimmune diseases by NF-κB inhibition.
Karaky M et al.
Human Molecular Genetics, 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
Mutation in a highly conserved glycine residue in strand 5B of plasminogen activator inhibitor 1 causes polymerisation.
Iwaki T et al.
Thrombosis and Haemostasis, 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
Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease).
Berkovic SF et al.
Neurology, 2016
N-linked glycosylation and homeostasis of the endoplasmic reticulum.
Cherepanova N et al.
Current Opinion in Cell Biology, 2016
New Concepts in Alpha-1 Antitrypsin Deficiency Disease Mechanisms.
Marciniak SJ et al.
Annals of the American Thoracic Society, 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
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
Muona M et al.
Nature Genetics, 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
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
Endoplasmic reticulum-associated degradation (ERAD) and autophagy cooperate to degrade polymerogenic mutant serpins.
Kroeger H et al.
The Journal of Biological Chemistry, 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
Conformational pathology of the serpins: themes, variations, and therapeutic strategies.
Gooptu B et al.
Annual Review of Biochemistry, 2009