ArticleAmyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis2014
Novel gelsolin variant as the cause of nephrotic syndrome and renal amyloidosis in a large kindred.
Article in Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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Who cites it
25 citing papers in PubMed, 42 citations in OpenAlex.
- A molecular perspective of gelsolin amyloidosis: An old foe with new faces.Cellular and molecular life sciences : CMLS · 2026Review
- Gelsolin amyloidosis presenting with nephrotic syndrome: a case report and molecular insights.Frontiers in medicine · 2026Article
- Renal gelsolin amyloidosis as a rare cause of proteinuria: a case report and literature review.BMC nephrology · 2025Review
- A novel heterozygous mutation in the gelsolin gene causes Finnish gelsolin amyloidosis associated with nephropathy and thrombotic microangiopathy.Archives of medical science : AMS · 2025Article
- Gelsolin amyloidosis associated with the p.D214N gelsolin gene mutation in a Chinese family.Kidney research and clinical practice · 2024Article
- Article
- Familial amyloidosis of the Finnish type: clinical and neurophysiological features of two index cases.BMJ case reports · 2022Article
- Rational Design of a Peptidomimetic Inhibitor of Gelsolin Amyloid Aggregation.International journal of molecular sciences · 2022Article
- The first Chinese renal gelsolin amyloidosis with the p.Asp174Asn mutation in the GSN gene: Nephrology picture.Journal of nephrology · 2021Article
- Ocular Involvement in Hereditary Amyloidosis.Genes · 2021Review
- Aggregation of gelsolin wild-type and G167K/R, N184K, and D187N/Y mutant peptides and inhibition.Molecular and cellular biochemistry · 2021Article
- Clinical Features and Brain MRI Findings in Korean Patients with AGel Amyloidosis.Yonsei medical journal · 2021Article
- Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a NovelInternational journal of molecular sciences · 2021Article
- A novel hotspot of gelsolin instability triggers an alternative mechanism of amyloid aggregation.Computational and structural biotechnology journal · 2021Article
- Finnish gelsolin amyloidosis causes significant disease burden but does not affect survival: FIN-GAR phase II study.Orphanet journal of rare diseases · 2020Article
- The structure of N184K amyloidogenic variant of gelsolin highlights the role of the H-bond network for protein stability and aggregation properties.European biophysics journal : EBJ · 2020Article
- Analyses Mutations inFrontiers in aging neuroscience · 2020Article
- The role of gelsolin domain 3 in familial amyloidosis (Finnish type).Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Atypical Presentation of Gelsolin Amyloidosis in a Man of African Descent with a Novel Mutation in the Gelsolin Gene.The American journal of case reports · 2018Article
- Gelsolin pathogenic Gly167Arg mutation promotes domain-swap dimerization of the protein.Human molecular genetics · 2018Article
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Authors and funding
11 authors at 3 institutions in 2 countries.
Funding
Abstract
Familial Amyloidosis of Finnish type (FAF) is a rare type of autosomal dominant hereditary amyloidosis associated with genetic variants of gelsolin. Three amyloidogenic mutations have previously been reported characteristically presenting with ophthalmologic abnormalities, progressive cranial neuropathy and cutis laxa. We report a novel gelsolin variant in a 62-year-old man with nephrotic range proteinuria of 13.2 grams/day as the only presenting symptom. Renal biopsy followed by laser micro-dissection and mass spectrometry showed amyloidosis derived from gelsolin. DNA sequencing revealed the novel gelsolin mutation (c.633C > A) encoding p.N211K protein variant. Four of 13 asymptomatic family members were found to be heterozygous for the p.N211K mutation, three of whom had proteinuria of varying degree including one who proceeded to renal biopsy and was confirmed to have renal amyloidosis. Follow-up of these cases might give us more insight into pathogenicity and potential treatment strategy of this atypical presentation of gelsolin amyloidosis.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.