Disease: Familial encephalopathy with neuroserpin inclusion bodies
- A Japanese family with mutation in the proteinase inhibitor 12 L47P gene: A case report
- A novel interaction between aging and ER overload in a protein conformational dementia
- A rat model of human FENIB (familial encephalopathy with neuroserpin inclusion bodies)
- A structural basis for loop C-sheet polymerization in serpins
- Accumulation of mutant neuroserpin precedes development of clinical symptoms in familial encephalopathy with neuroserpin inclusion bodies
- Association between conformational mutations in neuroserpin and onset and severity of dementia
- Calcium signalling in mammalian cell lines expressing wild type and mutant human α1-Antitrypsin
- Cellular Models for the Serpinopathies
- Changes in strand 6B and helix B during neuroserpin inhibition: Implication in severity of clinical phenotype
- Characterisation of serpin polymers in vitro and in vivo
- Cholesterol impairment contributes to neuroserpin aggregation
- Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene
- Cognitive deficits associated with a recently reported familial neurodegenerative disease: familial encephalopathy with neuroserpin inclusion bodies
- Contrasting conformational dynamics of β-sheet A and helix F with implications in neuroserpin inhibition and aggregation
- Early onset autosomal dominant dementia with ataxia, extrapyramidal features, and epilepsy
- Embelin as Lead Compound for New Neuroserpin Polymerization Inhibitors
- Embelin binds to human neuroserpin and impairs its polymerisation
- Endoplasmic reticulum dysfunction in neurological disease
- Endoplasmic reticulum-associated degradation (ERAD) and autophagy cooperate to degrade polymerogenic mutant serpins
- Familial conformational diseases and dementias
- Familial dementia caused by polymerization of mutant neuroserpin
- Familial encephalopathy with neuroserpin inclusion bodies
- Familial non-Alzheimer dementia
- Frontal deficits and atrophy in a patient with familial encephalopathy with neuroserpin inclusion bodies detected by single-case voxel-based morphometry: a case report
- Functional and dysfunctional conformers of human neuroserpin characterized by optical spectroscopies and Molecular Dynamics
- G392E neuroserpin causing the dementia FENIB is secreted from cells but is not synaptotoxic
- Glycosylation Tunes Neuroserpin Physiological and Pathological Properties
- HuD binds to three AU-rich sequences in the 3'-UTR of neuroserpin mRNA and promotes the accumulation of neuroserpin mRNA and protein
- Human neuroserpin: structure and time-dependent inhibition
- Hypersensitive mousetraps, alpha1-antitrypsin deficiency and dementia
- Increased anxiety was found in serpini1 knockout zebrafish larval
- Interactions between N-linked glycosylation and polymerisation of neuroserpin within the endoplasmic reticulum
- Latent S49P neuroserpin forms polymers in the dementia familial encephalopathy with neuroserpin inclusion bodies
- Lectin OS-9 delivers mutant neuroserpin to endoplasmic reticulum associated degradation in familial encephalopathy with neuroserpin inclusion bodies
- Limited Unfolded Protein Response and Inflammation in Neuroserpinopathy
- Modeling and Correction of Protein Conformational Disease in iPSC-derived Neurons through Personalized Base Editing
- Molecular mousetraps, alpha1-antitrypsin deficiency and the serpinopathies
- Mutant Neuroserpin (S49P) that causes familial encephalopathy with neuroserpin inclusion bodies is a poor proteinase inhibitor and readily forms polymers in vitro
- Mutants of neuroserpin that cause dementia accumulate as polymers within the endoplasmic reticulum
- Mutation-, aging-, and gene dosage-dependent accumulation of neuroserpin (G392E) in endoplasmic reticula and lysosomes of neurons in transgenic mice
- Neuroserpin
- Neuroserpin Inclusion Bodies in a FENIB Yeast Model
- Neuroserpin polymers activate NF-kappaB by a calcium signaling pathway that is independent of the unfolded protein response
- Neuroserpin polymers cause oxidative stress in a neuronal model of the dementia FENIB
- Neuroserpin Portland (Ser52Arg) is trapped as an inactive intermediate that rapidly forms polymers: implications for the epilepsy seen in the dementia FENIB
- Neuroserpin, a crucial regulator for axogenesis, synaptic modelling and cell-cell interactions in the pathophysiology of neurological disease
- Neuroserpin: a selective inhibitor of tissue-type plasminogen activator in the central nervous system
- Neuroserpin: a serpin to think about
- Neuroserpin: structure, function, physiology and pathology
- Persistent accumulation of unrepaired DNA damage in rat cortical neurons: nuclear organization and ChIP-seq analysis of damaged DNA
- pH-dependent stability of neuroserpin is mediated by histidines 119 and 138; implications for the control of beta-sheet A and polymerization
- Physiological and pathological functions of neuroserpin: Regulation of cellular responses through multiple mechanisms
- Polymerisation underlies alpha1-antitrypsin deficiency, dementia and other serpinopathies
- Polymerogenic neuroserpin causes mitochondrial alterations and activates NFκB but not the UPR in a neuronal model of neurodegeneration FENIB
- Practical genetics: alpha-1-antitrypsin deficiency and the serpinopathies
- Probing neuroserpin polymerization and interaction with amyloid-beta peptides using single molecule fluorescence
- Progressive myoclonus epilepsy associated with neuroserpin inclusion bodies (neuroserpinosis)
- Quantitative Proteomics Reveal Region-Specific Alterations in Neuroserpin-Deficient Mouse Brain and Retina: Insights into Serpini1 Function
- Role of SERPINI1 pathogenic variants in familial encephalopathy with neuroserpin inclusion bodies: A case report and literature review
- Sterol metabolism regulates neuroserpin polymer degradation in the absence of the unfolded protein response in the dementia FENIB
- Strand 1A variant in neuroserpin shows increased aggregation and no loss of inhibition: implication in ameliorating polymerization to retain activity
- Sugar and alcohol molecules provide a therapeutic strategy for the serpinopathies that cause dementia and cirrhosis
- The 2.1-A crystal structure of native neuroserpin reveals unique structural elements that contribute to conformational instability
- The endoplasmic reticulum (ER)-associated degradation system regulates aggregation and degradation of mutant neuroserpin
- The intracellular accumulation of polymeric neuroserpin explains the severity of the dementia FENIB
- The serpinopathies studying serpin polymerization in vivo
- The stability and activity of human neuroserpin are modulated by a salt bridge that stabilises the reactive centre loop
- The tempered polymerization of human neuroserpin
- Tissue plasminogen activator-independent roles of neuroserpin in the central nervous system
- Unravelling the twists and turns of the serpinopathies