Associated Papers
An Inducible Neural Stem Progenitor Cell Model for Testing Therapeutic Interventions Against Neurodegeneration FENIB.
Giustini A et al.
Drug Development Research, 2025
Deep brain stimulation in progressive myoclonus epilepsy with SERPINI1 mutation.
Liu Y et al.
Parkinsonism & Related Disorders, 2024
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: 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
Myoclonus-Ataxia Syndromes: A Diagnostic Approach.
Rossi M et al.
Movement Disorders Clinical Practice, 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
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
New Concepts in Alpha-1 Antitrypsin Deficiency Disease Mechanisms.
Marciniak SJ et al.
Annals of the American Thoracic Society, 2016
Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C.
Dardis A et al.
Acta Neuropathologica Communications, 2016
[α1-Antitrypsin deficiency].
Hirai T
Nihon Rinsho. Japanese Journal of Clinical Medicine, 2016
Crystal structure of cleaved vaspin (serpinA12).
Pippel J et al.
Biological Chemistry, 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
Analysis of surface cavity in serpin family reveals potential binding sites for chemical chaperone to reduce polymerization.
Singh P et al.
Journal of Molecular Modeling, 2012
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
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 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 South African mixed ancestry family with Huntington disease-like 2: clinical and genetic features.
Bardien S et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2007
Corticobasal syndrome associated with the A9D Progranulin mutation.
Spina S et al.
Journal of Neuropathology and Experimental Neurology, 2007
Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene.
Gourfinkel-An I et al.
Neurology, 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
Neurodegeneration and hereditary dementias: 40 years of learning.
Ghetti B
Journal of Alzheimer's Disease : Jad, 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
Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies.
Crowther DC et al.
European Journal of Human Genetics : Ejhg, 2004
Conformational mutations in neuroserpin and familial dementias.
Benvenga S
Lancet (london, England), 2002