Familial encephalopathy with neuroserpin inclusion bodies
about
Molecular Pathological Classification of Neurodegenerative Diseases: Turning towards Precision MedicineMutants of neuroserpin that cause dementia accumulate as polymers within the endoplasmic reticulumNeuroserpin Portland (Ser52Arg) is trapped as an inactive intermediate that rapidly forms polymers: implications for the epilepsy seen in the dementia FENIBBiochemical characterization of a neuroserpin variant associated with hereditary dementiaRegulation of seizure spreading by neuroserpin and tissue-type plasminogen activator is plasminogen-independentSerine proteases, serine protease inhibitors, and protease-activated receptors: roles in synaptic function and behaviorIdentification of a novel targeting sequence for regulated secretion in the serine protease inhibitor neuroserpin.Neuroserpin mutation S52R causes neuroserpin accumulation in neurons and is associated with progressive myoclonus epilepsy.Neonatal Hypoxia Ischaemia: Mechanisms, Models, and Therapeutic Challenges.Modified serpinA1 as risk marker for Parkinson's disease dementia: Analysis of baseline data.Neuroserpin polymorphisms and stroke risk in a biracial population: the stroke prevention in young women studyStress and molecular chaperones in disease.Familial conformational diseases and dementias.Protein misfolding and the serpinopathies.The aggregation-prone intracellular serpin SRP-2 fails to transit the ER in Caenorhabditis elegans.Accumulation of mutant neuroserpin precedes development of clinical symptoms in familial encephalopathy with neuroserpin inclusion bodies.Identification of a neurovascular signaling pathway regulating seizures in miceDifferential sialylation of serpin A1 in the early diagnosis of Parkinson's disease dementia.Embelin binds to human neuroserpin and impairs its polymerisation.What we owe to alpha(1)-antitrypsin and to Carl-Bertil Laurell.The intracellular accumulation of polymeric neuroserpin explains the severity of the dementia FENIB.Generalization of variants identified by genome-wide association studies for electrocardiographic traits in African AmericansNeuroserpin polymers activate NF-kappaB by a calcium signaling pathway that is independent of the unfolded protein response.Neurochemical approaches in the laboratory diagnosis of Parkinson and Parkinson dementia syndromes: a reviewalpha1-Antitrypsin deficiency, chronic obstructive pulmonary disease and the serpinopathies.Hepatic fibrosis and carcinogenesis in α1-antitrypsin deficiency: a prototype for chronic tissue damage in gain-of-function disorders.Unravelling the twists and turns of the serpinopathies.Sugar and alcohol molecules provide a therapeutic strategy for the serpinopathies that cause dementia and cirrhosis.Protein biomarkers in Parkinson's disease: Focus on cerebrospinal fluid markers and synaptic proteins.pH-dependent stability of neuroserpin is mediated by histidines 119 and 138; implications for the control of beta-sheet A and polymerization.The low density lipoprotein receptor-related protein modulates protease activity in the brain by mediating the cellular internalization of both neuroserpin and neuroserpin-tissue-type plasminogen activator complexes.Sterol metabolism regulates neuroserpin polymer degradation in the absence of the unfolded protein response in the dementia FENIB.Encephalopathy with neuroserpin inclusion bodies presenting as progressive myoclonus epilepsy and associated with a novel mutation in the Proteinase Inhibitor 12 geneDefining neurodegenerative diseases.Mutation-, aging-, and gene dosage-dependent accumulation of neuroserpin (G392E) in endoplasmic reticula and lysosomes of neurons in transgenic mice.Progressive ataxia and seizures in a Cocker Spaniel: a new type of neurodegenerative disease with novel intra-neuronal inclusions.Limited Unfolded Protein Response and Inflammation in Neuroserpinopathy.Molecular bases of neuroserpin function and pathology.SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.
P2860
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P2860
Familial encephalopathy with neuroserpin inclusion bodies
description
1999 nî lūn-bûn
@nan
1999年の論文
@ja
1999年論文
@yue
1999年論文
@zh-hant
1999年論文
@zh-hk
1999年論文
@zh-mo
1999年論文
@zh-tw
1999年论文
@wuu
1999年论文
@zh
1999年论文
@zh-cn
name
Familial encephalopathy with neuroserpin inclusion bodies
@ast
Familial encephalopathy with neuroserpin inclusion bodies
@en
type
label
Familial encephalopathy with neuroserpin inclusion bodies
@ast
Familial encephalopathy with neuroserpin inclusion bodies
@en
prefLabel
Familial encephalopathy with neuroserpin inclusion bodies
@ast
Familial encephalopathy with neuroserpin inclusion bodies
@en
P2093
P2860
P1476
Familial encephalopathy with neuroserpin inclusion bodies
@en
P2093
A E Shrimpton
A Rosenbaum
C Bradshaw
D A Lawrence
F Lacbawan
G H Collins
P2860
P304
P356
10.1016/S0002-9440(10)65510-1
P407
P577
1999-12-01T00:00:00Z