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
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
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
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Sedlackova L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 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
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
Early-onset rapidly progressive myoclonic epilepsy associated with G392R likely pathogenic variant in SERPINI1.
Kara B et al.
Seizure, 2020
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
Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review.
Kessi M et al.
Bmc 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
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
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
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
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
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
alpha1-Antitrypsin deficiency, chronic obstructive pulmonary disease and the serpinopathies.
Ekeowa UI et al.
Clinical Science (london, England : 1979), 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