Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

Background Proteomics is routinely used to type clinical amyloid deposits, and offers additional benefit of identifying genetic variants, which can be diagnostically useful. Reviewing the proteomics data for ATTR patients attending our Centre revealed an unusually large number of samples containing a rare pathogenic H90D TTR variant alongside the more common H90N variant.

Simran Raheja

Guglielmo Verona

Paolo Florent

Nigel B. Rendell

Paola Nocerino

Stephan Ellemerich

Raizel Fernandes

Nicola Botcher

Dorota Rowczenio

Janet A. Gilbertson

J. Paul Simons

Julian D. Gillmore

Vittorio Bellotti

Graham W. Taylor

Diana Canetti

Amyloid

Oxidative conversion of transthyretin in formalin-fixed clinical amyloid samples results in the formation of the His90Asp and His90Asn variants

甲醛固定临床淀粉样样本中转甲状腺素蛋白的氧化转化导致His90Asp和His90Asn变体的形成

A. Roldán-Sevilla

M. Gallego-Delgado

M. T. Lista-Araujo

J. Torres-Pérez

A. M. Merino-Merino

C. Gil-Polo

D. Cantero-Lozano

S. M. Lorenzo-Hernandez

R. Eiros-Bachiller

Clinical and genetic features of AGel amyloidosis caused by novel gelsolin variant and its impact on cardiac function and conduction disorders

由新型凝溶胶蛋白变异引起的老年淀粉样变性的临床和遗传特征及其对心脏功能和传导障碍的影响

Background Each monoclonal antibody light chain associated with AL amyloidosis has a unique sequence. Defining how these sequences drive amyloid deposition could facilitate faster diagnosis and lead to new treatments.

Gareth J. Morgan

Allison N. Nau

Sherry Wong

Brian H. Spencer

Yun Shen

Axin Hua

Matthew J. Bullard

Vaishali Sanchorawala

Tatiana Prokaeva

An updated AL-base reveals ranked enrichment of immunoglobulin light chain variable genes in AL amyloidosis

更新后的AL基序揭示了AL淀粉样变性中免疫球蛋白轻链可变基因的排序富集

Martha Skinner

In memoriam: Lawreen Connors, Ph.D.

纪念：劳琳·康纳斯博士

The clinical efficacy of transthyretin (TTR) tetramer stabilisers and TTR gene silencers in addition to liver transplantation has been established for hereditary ATTR (ATTRv) amyloidosis. Accordingly, non-central nervous system (CNS) systemic amyloidosis manifestations, such as peripheral neuropathy and cardiomyopathy, are now being overcome. However, emerging disease-modifying therapeutics have limited effects on CNS amyloidosis since they target the blood-circulating TTR produced in the liver, and not the cerebral spinal fluid (CSF) TTR synthesised in the choroid plexus. CNS involvement is therefore becoming the most common and severe complication in patients with ATTRv amyloidosis, including transient focal neurologic episodes, haemorrhagic and ischaemic stroke, cognitive decline, and cranial nerve dysfunction. Pathologically, extensive amyloid depositions are observable in the leptomeninges and leptomeningeal vessels, which are in direct contact with the CSF. Amyloid positron emission tomography is a useful biomarker for the early detection and treatment evaluation of early-onset ATTRv amyloidosis with the V30M (p.V30M) variant. Treatment-wise, blood-brain barrier-permeable stabilisers, intrathecal injection of silencers, and monoclonal antibodies against misfolded TTR and/or ATTR amyloid may potentially ameliorate CNS ATTR amyloidosis. The development of novel imaging/CSF biomarkers and disease-modifying therapies are the greatest unmet medical need in ATTRv amyloidosis and require further clinical trials.

Yoshiki Sekijima

Luísa Sousa

Pathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis

遗传性ATTR淀粉样变性中枢神经系统并发症的发病机制、表现、诊断与管理

Abbreviation
Journal Impact	5.26
Quartiles(Global)	MEDICINE, RESEARCH & EXPERIMENTAL(Q1)

ISSN	1350-6129, 1744-2818
h-index	72

Publication Information	Publisher: Informa Healthcare，Publishing cycle: Quarterly，Journal Type: journal，Open Access Journals: No
Basic data	Year of publication: 1994，Proportion of original research papers: 97.83%，Self Citation Rate:5.80%， Gold OA Rate: 31.25%
Average review cycle	网友分享经验：较慢,6-12周
Average recruitment ratio	网友分享经验：一般

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis

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Oxidative conversion of transthyretin in formalin-fixed clinical amyloid samples results in the formation of the His90Asp and His90Asn variants

Clinical and genetic features of AGel amyloidosis caused by novel gelsolin variant and its impact on cardiac function and conduction disorders

An updated AL-base reveals ranked enrichment of immunoglobulin light chain variable genes in AL amyloidosis

In memoriam: Lawreen Connors, Ph.D.

Pathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis

Clinical and genetic features of AGel amyloidosis caused by novel gelsolin variant and its impact on cardiac function and conduction disorders

Oxidative conversion of transthyretin in formalin-fixed clinical amyloid samples results in the formation of the His90Asp and His90Asn variants

An updated AL-base reveals ranked enrichment of immunoglobulin light chain variable genes in AL amyloidosis

Pathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis

In memoriam: Lawreen Connors, Ph.D.