ArticleAmyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis2014
Gene expression profile in hereditary transthyretin amyloidosis: differences in targeted and source organs.
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 9 papers.
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Who cites it
9 citing papers in PubMed, 17 citations in OpenAlex.
- TTR variants in patients with dilated cardiomyopathy: An investigation of the DCM Precision Medicine Study.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- The integration of genetically-regulated transcriptomics and electronic health records highlights a pattern of medical outcomes related to increased hepaticAmyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis · 2022Article
- Cerebellar and Cerebral Amyloid Visualized by [Frontiers in neurology · 2022Article
- Exploring nano-enabled CRISPR-Cas-powered strategies for efficient diagnostics and treatment of infectious diseases.Journal of nanostructure in chemistry · 2022Review
- A Brief Journey through Protein Misfolding in Transthyretin Amyloidosis (ATTR Amyloidosis).International journal of molecular sciences · 2021Review
- Population diversity of the genetically determined TTR expression in human tissues and its implications in TTR amyloidosis.BMC genomics · 2017Article
- Peripheral Blood Cell Gene Expression Diagnostic for Identifying Symptomatic Transthyretin Amyloidosis Patients: Male and Female Specific Signatures.Theranostics · 2016Article
- Endoplasmic reticulum quality control and systemic amyloid disease: Impacting protein stability from the inside out.IUBMB life · 2015Review
- Evidence of the presence of amyloid substance in the blood of familial amyloidotic polyneuropathy patients with ATTR Val30Met mutation.International journal of clinical and experimental pathology · 2014Article
Corrections and comments
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Authors and funding
8 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionHereditary transthyretin amyloidosis (ATTR) is a genetic disease caused by a point mutation in the TTR gene that causes the liver to produce an unstable TTR protein. The most effective treatment has been liver transplantation in order to replace the variant TTR producing liver with one that produces only wild-type TTR. ATTR amyloidosis patients' livers are reused for liver sick patients, i.e. the Domino procedure. However, recent findings have demonstrated that ATTR amyloidosis can develop in the recipients within 7-8 years. The aim of this study was to elucidate how the genetic profile of the liver is affected by the disease, and how amyloid deposits affect target tissue.
methodsGene expression analysis was used to unravel the genetic profiles of Swedish ATTR V30M patients and controls. Biopsies from adipose tissue and liver were examined. RESULTS AND
conclusionsATTR amyloid patients' gene expression profile of the main source organ, the liver, differed markedly from that of the controls, whereas the target organs' gene expression profiles were not markedly altered in the ATTR amyloid patients compared to those of the controls. An impaired ER/protein folding pathway might suggest ER overload due to mutated TTR protein.
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