Short CommunicationA Leucine-to-Proline Substitution Causes a Defective α1-Antichymotrypsin Allele Associated with Familial Obstructive Lung Disease
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Unfolding the cascade of SERPINA3: Inflammation to cancer
2022, Biochimica et Biophysica Acta - Reviews on CancerContrasting conformational dynamics of β-sheet A and helix F with implications in neuroserpin inhibition and aggregation
2021, International Journal of Biological MacromoleculesProteinase Inhibitors: Antichymotrypsin
2021, Encyclopedia of Respiratory Medicine, Second EditionSerpina3n is closely associated with fibrotic procession and knockdown ameliorates bleomycin-induced pulmonary fibrosis
2020, Biochemical and Biophysical Research CommunicationsChanges in strand 6B and helix B during neuroserpin inhibition: Implication in severity of clinical phenotype
2020, Biochimica et Biophysica Acta - Proteins and ProteomicsCitation Excerpt :G392R/E (with age onset 1st to 2nd decade) shows a clinical phenotype that is more severe than L47P and S52R (onset age 3rd decade), while a relatively mild S49P variant causes dementia in the 5th or 6th decade associated with tremors and seizures [17,20,21,23,24]. Several shutter region variants have also been identified in the strand 6B and helix B of other serpins that are associated with pathological disorders mostly characterized by reduced inhibitory activity and/or an increased polymer formation [10,25–28]. Substitution of Met89 in antithrombin (AT) on helix B to Leu (M89L) variant leads to a reduced inhibitory activity of AT [28].
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